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05-82000-28

Original Effective Date: 10/15/01

Reviewed: 12/03/15

Revised: 01/01/16

Subject: Genetic Testing

THIS MEDICAL COVERAGE GUIDELINE IS NOT AN AUTHORIZATION, CERTIFICATION, EXPLANATION OF BENEFITS, OR A GUARANTEE OF PAYMENT, NOR DOES IT SUBSTITUTE FOR OR CONSTITUTE MEDICAL ADVICE. ALL MEDICAL DECISIONS ARE SOLELY THE RESPONSIBILITY OF THE PATIENT AND PHYSICIAN. BENEFITS ARE DETERMINED BY THE GROUP CONTRACT, MEMBER BENEFIT BOOKLET, AND/OR INDIVIDUAL SUBSCRIBER CERTIFICATE IN EFFECT AT THE TIME SERVICES WERE RENDERED. THIS MEDICAL COVERAGE GUIDELINE APPLIES TO ALL LINES OF BUSINESS UNLESS OTHERWISE NOTED IN THE PROGRAM EXCEPTIONS SECTION.

           
Position Statement Billing/Coding Reimbursement Program Exceptions Definitions Related Guidelines
           
Other References Updates    
           

DESCRIPTION:

A genetic or genomic test involves an analysis of human chromosomes, deoxyribonucleic acid (DNA), ribonucleic acid (RNA), or gene products (e.g., enzymes and other types of proteins) to detect heritable or somatic mutations, genotypes, or phenotypes related to disease and health.

There are several different types of genetic tests available today, including:

Carrier: tells people if they “carry” a genetic change that can cause a disease. Carriers usually show no signs of the disorder; however they can pass on the genetic variation to their children, who may develop the disorder or become carriers themselves

Diagnostic: identifies a genetic condition or disease that is making or in the future will make a person ill. The results of diagnostic testing can help in treating and managing the disorder

Newborn screening: used to test babies one or two days after birth to find out if they have certain disease known to cause problems with health and development

Pre-implantation: done in conjunction with in vitro fertilization to determine if embryos for implantation carry genes that could cause disease

Prenatal screening: offered during pregnancy to help identify fetuses that have certain diseases.
(National Institutes of Health, October 2008)

POSITION STATEMENT:

NOTE: Coverage for genetic testing, screening, and counseling are applicable only under those contracts that include benefits for genetic testing, preventive health services, screening services, and medical counseling.

GENETIC TESTING TO ESTABLISH A DIAGNOSIS OF INHERITABLE DISEASE

Genetic testing meets the definition of medical necessity when used to establish a molecular diagnosis of an inheritable disease when the following criteria are met:

1. The member displays clinical features, or is at direct risk of inheriting the mutation in question (presymptomatic); AND

2. The result of the test will directly impact the treatment being delivered to the member; AND

3. After history, physical examination, pedigree analysis, genetic counseling, and completion of conventional diagnostic studies, a definitive diagnosis remains uncertain, and one of the diagnoses listed below may be suspected (the list is not all-inclusive)

OR

For assisted reproductive technology (also known as pre-implantation genetic testing [PGT] or pre-implantation genetic diagnosis [PGD]) cases (i.e. in vitro fertilization (IVF), gamete intrafallopian transfer (GIFT), artificial insemination) where either parent is known to have a chromosomal abnormality. Results of testing must impact reproductive treatment and planning. NOTE: applicable only under those contracts that include infertility benefits.

Diagnosis Table:

Albinism (albino)

Charcot-Marie-Tooth Disease

Hemochromatosis
(gene sequence analysis)

Retinoblastoma

Alpha-Thalassemia

Cystic Fibrosis (CF)
(see criteria below)

Hemoglobin E Thalassemia
(Hgb electrophoresis)

Sickle Cell Anemia

Angelman Syndrome
(see criteria below)

Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD)
(see criteria below)

Huntington’s Chorea
(see criteria below)

Spinal Muscular Atrophy (SMA)

Beta-Thalassemia

Fabry Disease

Myotonic Dystrophy
(see criteria below)

Tay-Sachs

Canavan Disease

Fragile X Syndrome
(see criteria below)

Niemann-Pick
(enzyme or mutation analysis)

Tuberous Sclerosis
(see criteria below)

Chromosome 22q11.2 Deletion Syndrome
(see criteria below)

Gaucher Disease
(see criteria below)

Prader-Willi Syndrome
(see criteria below)

Von Hippel-Lindau Syndrome

Criteria for Specific Prenatal Diagnostic Testing:

Diagnosis

Criteria

Angelman Syndrome

Genetic testing for Angelman Syndrome meets the definition of medical necessity for ONE of the following:

• Cytogenic deletion is suspected on chorionic villus sampling (CVS) or amniocentesis

• Previous child diagnosed with Angelman Syndrome caused by a UBE3A mutation.

Chromosomal Microarray Analysis (CMA)

(Also referred to as genomic hybridization (CGH) or array comparative genomic hybridization (aCGH).)

1(Anora™ miscarriage test, CombiSNP™ Array for Pregnancy Loss, and CombiBAC™ Array)

Chromosome microarray (CMA) testing meets the definition of medical necessity as an alternative to karyotyping in members who are undergoing invasive diagnostic prenatal (fetal) testing,

1Chromosomal microarray analysis of fetal tissue meets the definition of medical necessity for the evaluation of intrauterine fetal demise that occurs after the second trimester (after 26 weeks and 6 days gestation).

Chromosomal microarray analysis of fetal tissue in cases of miscarriage or intrauterine fetal demise is considered experimental or investigational in all other situations. There is insufficient clinical evidence to permit conclusions on net health outcomes.

The use of next generation sequencing in the setting of invasive prenatal testing is considered experimental or investigational. There is a lack of clinical data to permit conclusions on efficacy and net health outcomes.

Chromosome 22q11.2 Deletion Syndrome

Genetic testing for chromosome 22q11.2 deletion syndrome meets the definition of medical necessity in an at-risk fetus based on ultrasound findings or family history.

Cystic Fibrosis (CF)

Genetic carrier testing for cystic fibrosis meets the definition of medical necessity for ONE of the following:

• Individuals with a positive family history of CF

• Either parent has a diagnosis of CF

• fetal echogenic bowel has been identified on ultrasound

• Couples currently planning a pregnancy or seeking prenatal testing.

Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD)

Genetic testing for DMD or BMD meets the definition of medical necessity when the mother has been identified as a known carrier of DMD or BMD.

Fragile X Syndrome

Genetic testing for Fragile X Syndrome meets the definition of medical necessity for ONE of the following:

• Individuals with mental retardation, developmental delay, or autism

• Family history of Fragile X Syndrome

• Family history of undiagnosed mental retardation, developmental delay, or autism.

Gaucher Disease

Genetic testing for Gaucher Disease meets the definition of medical necessity for ONE of the following:

• There is an affected family member who has an identified GBA mutation or Gaucher disease

• Either parents or a previously affected sibling have an identified GBA mutation or Gaucher disease.

Huntington’s Chorea

Genetic testing for Huntington’s chorea meets the definition of medical necessity when there is a confirmed diagnosis of Huntington’s chorea in the family.

Myotonic Dystrophy

Genetic testing for myotonic dystrophy (Types 1 or 2) meets the definition of medical necessity for ONE of the following:

• At least one parent has a confirmed diagnosis of myotonic dystrophy

• At least one parent has been diagnosed as a presymptomatic carrier of myotonic dystrophy.

Prader-Willi Syndrome

Genetic testing for Prader-Willi Syndrome meets the definition of medical necessity when ONE of the following:

• Previous child diagnosed with Prader-Willi Syndrome

• Cytogenic deletion is suspected on chorionic villus sampling (CVS) or amniocentesis.

Single-Gene Disorders

Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders meets the definition of medical necessity when a pregnancy has been identified as being at high risk for:

1. autosomal dominant conditions, at least 1 of the parents has a known pathogenic mutation.

2. autosomal recessive conditions:

• Both parents are suspected to be carriers or are known to be carriers, OR

• One parent is clinically affected and the other parent is suspected to be or is a known carrier.

3. X-linked conditions: A parent is suspected to be or is a known carrier.

AND ALL of the following are met:

a. The natural history of the disease is well understood, and there is a reasonable likelihood that the disease is one with high morbidity in the homozygous or compound heterozygous state

b. The disease has high penetrance

c. The genetic test has adequate sensitivity and specificity to guide clinical decision making and residual risk is understood, AND

d. An association of the marker with the disorder has been established.

Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders is considered experimental or investigational if the above criteria are not met. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Tuberous Sclerosis

Genetic testing for Tuberous Sclerosis meets the definition of medical necessity for ONE of the following:

• Family history of Tuberous Sclerosis

• A specific mutation in the TSC1 and TSC2 gene has been identified in an affected family member.

For all other indications not listed above genetic testing for prenatal screening is considered experimental or investigational. This includes testing for the general population including genetic disease screening panels, as well as large comprehensive carrier screening panels (e.g. Counsyl Universal Carrier Genetic test), and whole genome & whole exome sequencing in which the entire DNA is sequenced. There is a lack of clinical data to permit conclusions on net health outcomes.

Genetic testing of children to predict adult onset diseases does not meet the definition of medical necessity unless test results will guide current decisions concerning prevention and this benefit would be lost by waiting until the child has reached adulthood.

NEWBORN SCREENING

See U.S. Preventive Services Task Force (USPSTF) Recommendations at uspreventiveservicestaskforce.org.

POSTNATAL AND OTHER GENETIC TESTS

NOTE: Coverage for genetic testing, screening, and counseling are applicable only under those contracts that include benefits for genetic testing, preventive health services, screening services, and medical counseling.

To be considered genetic testing (vs. genetic screening) for indications other than to establish a diagnosis of inheritable disease, ALL of the following criteria must be met:

Diagnostic results from conventional testing and physical examination are inconclusive; AND

Results of molecular diagnostic testing are necessary to guide treatment decisions.

The following test list includes, but is not limited to, specific indications for testing that may meet the definition of medical necessity and those for which testing is considered experimental or investigational.

Criteria for Specific Genetic Testing:

TEST

CRITERIA

Cancer Susceptibility Panels

(e.g., BROCA Cancer Risk Panel, BRCAplus, BreastNext™, OvaNext™, myRisk™ NGS, ColoSeq™, ColoNext™, CancerNext™)

Genetic cancer susceptibility panels using next generation sequencing are considered experimental or investigational. There is a lack of clinical data to permit conclusions on clinical utility and net health outcomes.

Cardiovascular Disease or Aneurysm

(e.g., 9p21-EarlyMICheck™ Genotype Test, deCODE MI™)

The use of genotyping for 9p21 single nucleotide polymorphisms is considered experimental or investigational, including but not limited to, identification of members who may be at increased risk of cardiovascular disease or its manifestations (e.g., MI, ischemic stroke, peripheral arterial disease, coronary artery calcification), or identification of members who may be at increased risk for aneurysmal disease (abdominal aortic aneurysms, intracranial aneurysms, polypoidal choroidal vasculopathy). There is insufficient evidence regarding the clinical utility of this testing to permit conclusions on health outcomes.

Cardiovascular Risk and/or Effectiveness of Statin Therapy

(e.g., Cardio IQ™ KIF6 Genotype, KIF6 StatinCheck™ Genotype)

KIF6 Genotyping is considered experimental or investigational for predicting cardiovascular risk and/or the effectiveness of statin therapy. There is insufficient evidence on the clinical validity of the testing to permit conclusions on health outcomes.

Celiac Disease

(HLA Typing; PROMETHEUS® Celiac PLUS)

HLA-DQ2 and HLA-DQ8 testing meets the definition of medical necessity to rule out celiac disease in individuals with discordant serologic and histologic (biopsy) findings or if persistent symptoms warrant testing despite negative serology and histology.

HLA-DQ2 and HLA-DQ8 testing for celiac disease is considered experimental or investigational in all other situations. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Chromosomal Microarray Analysis (CMA)

(Also referred to as genomic hybridization (CGH) or array comparative genomic hybridization (aCGH).)

(Affymetrix CytoScan® Dx; FirstStepDx PLUS; Reveal® SNP Microarray Pediatric)

Chromosomal microarray analysis meets the definition of medical necessity as first line testing in the initial postnatal evaluation of members with any of the following:

• Apparently nonsyndromic developmental delay/intellectual disability

• Autism spectrum disorder OR

• Multiple congenital anomalies not specific to a well-delineated genetic syndrome.

Panel testing using next-generation sequencing (NGS) is considered experimental or investigational in all cases of suspected genetic abnormality in children with developmental delay/intellectual disability, autism spectrum disorder or congenital anomalies. There is insufficient evidence to determine the effects of NGS panel testing in members who have developmental delay/intellectual disability, autism spectrum disorder or multiple congenital anomalies not specific to a well-delineated genetic syndrome on health outcomes.

Cardiac Ion Channelopathies

Includes QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), and short QT syndrome (SQTS)

(FAMILION® Test)

Long QT Syndrome (LQTS)

Genetic testing to confirm a diagnosis of congenital LQTS meets the definition of medical necessity when signs and/or symptoms of LQTS are present but a definitive diagnosis cannot be made without genetic testing. This includes:

• Members who do not meet the clinical criteria for LQTS (i.e., those with a Schwartz score less than 4), but who have a moderate-to-high pretest probability based on the Schwartz score and/or clinical criteria.

Note: Determining the pretest probability of LQTS is not standardized. An example of a member with a moderate-to-high pretest probability of LQTS is a member with a Schwartz score of 2 – 3. Refer to Diagnostic Scoring System* for LQTS below.

Genetic testing of asymptomatic members to determine future risk of LQTS meets the definition of medical necessity when at least one of the following criteria is met:

• A close relative (ie, first-, second-, or third-degree relative) with a known LQTS mutation; OR

• A close relative diagnosed with LQTS by clinical means whose genetic status is unavailable.

Genetic testing for LQTS for all other situations not meeting criteria above, including but not limited to determining prognosis and/or directing therapy in members with known LQTS is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Genetic testing to confirm a diagnosis of CPVT meets the definition of medical necessity when signs and/or symptoms of CPVT are present, but a definitive diagnosis cannot be made without genetic testing.

Genetic testing of asymptomatic members to determine future risk of CPVT meets the definition of medical necessity when at least one of the following criteria is met:

• A close relative (ie, first-, second-, or third-degree relative) with a known CPVT mutation; OR

• A close relative diagnosed with CPVT by clinical means whose genetic status is unavailable.

Genetic testing for CPVT for all other situations not meeting the criteria above is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Brugada Syndrome (BrS)

Genetic testing to confirm a diagnosis of BrS meets the definition of medical necessity when signs and/or symptoms consistent with BrS are present but a definitive diagnosis cannot be made without genetic testing.

Genetic testing of asymptomatic members to determine future risk of BrS meets the definition of medical necessity when members have a close relative (ie, first-, second-, or third-degree relative) with a known BrS mutation.

Genetic testing for BrS for all other situations not meeting the criteria above is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Short QT Syndrome (SQTS)

Genetic testing of asymptomatic members to determine future risk of SQTS meets the definition of medical necessity when members have a close relative (ie, first-, second-, or third-degree relative) with a known SQTS mutation.

Genetic testing for SQTS for all other situations not meeting the criteria above is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

NOTE: First-degree relatives: children, brothers, sisters and parents. Second-degree relatives: grandparents, aunts, uncles, nieces, nephews, half-siblings, and grandchildren. Third-degree relatives: great-grandparents, great-aunts, great-uncles, great-grandchildren, and first cousins.

Coronary Artery Disease

(e.g. Corus® CAD)

Gene expression testing to predict coronary artery disease (CAD) is considered experimental or investigational for all indications, including but not limited to prediction of the likelihood of CAD in stable, nondiabetic members. There is a lack of clinical data to permit conclusions on net health outcomes.

Cutaneous Malignant Melanoma

(Melaris®)

Genetic testing for mutations associated with hereditary cutaneous malignant melanoma or associated with susceptibility to cutaneous malignant melanoma is considered experimental or investigational as how the use of the presence or absence of these genetic mutations would impact clinical care is still unknown. In addition, not finding a mutation does not exclude the presence of hereditary cutaneous malignant melanoma.

FhlaAlzheimer’s Disease

(Admark® Profile or Alzheimer’s Evaluation; AlzheimAlert™)

Genetic testing for the risk assessment of Alzheimer’s disease in asymptomatic members is considered experimental or investigational. There is insufficient peer-reviewed literature to permit conclusions on how this testing could be incorporated into member management to improve net health outcomes.

NOTE: Genetic testing includes, but is not limited to, testing for apolipoprotein E epsilon 4 allele (APOE), presenilin genes (PSEN), triggering receptor expressed on myeloid cells 2 (TREM2), or amyloid-beta precursor protein (APP).

Hereditary Pancreatitis

Genetic testing for hereditary pancreatitis is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on net health outcomes.

Germline Mutations of the RET Proto-Oncogene in Medullary Carcinoma of the Thyroid

Genetic testing for RET proto-oncogene point mutations meets the definition of medical necessity for the following indications:

• Asymptomatic members of families with defined RET gene mutations

• Members of families known to be affected by inherited medullary thyroid cancer, but not previously evaluated for RET mutations

• Members with sporadic medullary thyroid cancer.

Genetic testing for RET proto-oncogene point mutations is considered experimental or investigational, as there is insufficient clinical evidence to support the use of genetic testing for screening the general population. There is a lack of clinical data to permit conclusions on efficacy and net health outcomes.

Mental Health Conditions

(e.g., GeneSightRX®, GeneSight Psychotropic panel, Genecept Assay, STA2R, Proove® Opioid Risk, PROOVE Drug Metabolism Profile, PHARMAchip, SureGene, Mental Health DNA Insight panel, IDgenetix panels.)

Genetic testing for mental health disorders or for mutations associated with mental health disorders is considered experimental or investigational as there is a lack of clinical data to permit conclusions on the clinical management of the member and net health outcomes.

Helicobacter pylori (H. pylori) Treatment

Genotyping to determine cytochrome p450 (CYP2C19) genetic polymorphisms is considered experimental or investigational for the purpose of managing the treatment of H. pylori infection. There are currently no clinical trials comparing a treatment strategy that uses genetic testing to one that does not use genetic testing and no other studies have reported an improvement in health outcomes associated with CYP2C19 testing.

Hereditary Breast or Ovarian Cancer

See guideline 05-82000-30, Genetic Testing for Hereditary Breast or Ovarian Cancer

Hereditary Cardiomyopathies

Genetic testing for predisposition to hypertrophic cardiomyopathy (HCM) meets the definition of medical necessity for individuals who are at risk for development of HCM, defined as having a close (first- or second- degree*) relative with established HCM, when there is a known pathogenic gene mutation present in that affected relative.

Genetic testing for predisposition to HCM is considered experimental or investigational for all other member populations, including but not limited to individuals who have a first-degree relative with clinical HCM, but in whom genetic testing is unavailable. There is a lack of clinical data to permit conclusions on the clinical management of the member and net health outcomes.

* (First-degree relatives: children, brothers, sisters and parents. Second-degree relatives: grandparents, aunts, uncles, nieces, nephews, half-siblings, and grandchildren.)

Genetic testing to determine the diagnosis or management of all other hereditary cardiomyopathies, including but not limited to, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), dilated, restrictive, and left ventricular noncompaction cardiomyopathies, is considered experimental or investigational. There is a lack of clinical data to permit conclusions on net health outcomes.

Inherited Peripheral Neuropathy

Genetic testing is considered experimental or investigational to confirm a clinical diagnosis of an inherited peripheral neuropathy.

Genetic testing for an inherited peripheral neuropathy is considered experimental or investigational for all other indications.

There is insufficient evidence to permit conclusions on clinical utility and net health outcomes.

Inherited Susceptibility to Colon Cancer Including Microsatellite Instability

See guideline 05-82000-31, Genetic Testing for Inherited Susceptibility to Colon Cancer Including Microsatellite Instability.

Inherited Thrombophilia

Genetic testing for inherited thrombophilia, including testing for factor V Leiden mutations, prothrombin gene mutations, and mutations in the MTHFR gene, is considered experimental or investigational. There is a lack of clinical data to permit conclusions on clinical utility and net health outcomes.

Inflammatory Bowel Disease

(PROMETHEUS® Crohn’s Prognostic)

Determination of anti-neutrophil cytoplasmic antibody (ANCA), anti-Saccharomyces cerevisiae antibody (ASCA), OmpC antibodies, and I2 antibodies is considered experimental or investigational as there is insufficient clinical evidence to support the use of determination of ANCA, ASCA, OmpC antibodies, and I2 antibodies in the work-up and monitoring of members with inflammatory bowel disease. There is insufficient evidence to support conclusions regarding effects of ANCA, ASCA, OmpC, and I2 antibodies on health outcomes.

Lactase Insufficiency

(e.g., LactoType®)

The use of targeted mutation analysis of -13910 C>T for the prediction of lactase insufficiency is considered experimental or investigational. There is insufficient evidence that the testing would affect medical management or improve clinical outcomes.

Lipoprotein(a) Variant(s) as a Decision Aid for Aspirin Treatment

(e.g., LPA-Aspirin Genetype )

The use of genetic testing for the rs3798220 allele is considered experimental or investigational in members who are being considered for treatment with aspirin to reduce risk of cardiovascular events. There is insufficient evidence to permit conclusions on how this testing would change medical management and improve health outcomes.

Nonfamilial Breast Cancer

(e.g., 23andMe, BREVAGenplus®, City of Hope Breast Cancer Susceptibility Assay, deCODE BreastCancer™, & deCODEme Complete Scan, OncoVue®)

Testing for one or more single nucleotide polymorphisms (SNPs) to predict an individual’s risk of breast cancer is considered experimental or investigational. There is insufficient evidence on the clinical validity of the testing to permit conclusions on health outcomes.

Pain Management

(e.g., Panels: GeneSight Analgesic; Proove® Narcotic Risk; Proove® Opioid Risk; Proove® Pain Perception; Pain Medication DNA Insight™; Millennium PGTSM.)

Genetic testing for pain management is considered experimental or investigational for all indications. The clinical utility of pharmacogenetic testing in pain management is poorly defined to permit conclusions on health outcomes.

PALB2 Mutations

(e.g., PANEXIA)

Genetic testing for PALB2 mutations in members with breast or pancreatic cancer or for cancer risk assessment in members with or without a family history of breast or pancreatic cancer is considered experimental or investigational. The evidence is insufficient that screening individuals with a family history of pancreatic cancer improves survival, nor are there generally accepted clinical management guidelines for optimal screening modalities or intervals for screening for pancreatic cancer.

Prostate Cancer

(4Kscore™; ConfirmMDx®; Prolaris®; PROGENSA® PCA3; Promark™; Prostarix; Prostate Core Mitomics™)

1 (Decipher®; Oncotype Dx® Prostate; Prolaris®)

Genetic tests for the screening, detection, and management of prostate cancer are considered experimental or investigational. This includes, but is not limited to the following:

• single-nucleotide polymorphisms (SNPs) for risk assessment;

• PCA3 for disease diagnosis and prognosis;

• TMPRSS fusion genes for diagnosis and prognosis (ERG, PTEN));

• multiple gene tests (gene panels) for prostate cancer diagnosis;

OR

• gene hypermethylation for diagnosis and prognosis (HOXD3).

The evidence on the clinical validity of genetic tests related to prostate cancer screening, detection, and management is variable and incomplete, leaving considerable uncertainty regarding the clinical performance characteristics such as sensitivity, specificity, and predictive value.

1 Gene expression analysis to guide management of prostate cancer are considered experimental or investigational in all indications. Evidence is insufficient to determine the clinical validity, utility, or to permit conclusions on net health outcomes.

Rett Syndrome

Mutation testing for Rett syndrome meets the definition of medical necessity to confirm a diagnosis of Rett syndrome in a female child with developmental delay and signs/symptoms of Rett syndrome when a definitive diagnosis cannot be made without genetic testing.

All other indications for mutation testing for Rett syndrome, including carrier testing (prenatal or preconception), and testing of asymptomatic family members to determine future risk of disease, are considered experimental or investigational. Clinical utility is lacking as the yield of testing is extremely low.

ScoliScore™

The use of DNA-based prognostic tests, including the ScoliScore™ AIS Prognostic Test, to predict spinal curve progression in adolescent idiopathic scoliosis is considered experimental or investigational. There is insufficient clinical evidence in peer-reviewed literature to permit conclusions on net health outcomes.

Statin-Induced Myopathy

(e.g. Statin Induced Myopathy (SLCO1B1) Genotype, SLCO1B1 Variants)

Genetic testing for the presence of variants in the SLCO1B1 gene for the purpose of identifying members at risk of statin-induced myopathy is considered experimental or investigational. There is insufficient clinical evidence to permit conclusions on health outcomes.

Tamoxifen Treatment

Genotyping to determine cytochrome p450 (CYP2D6) genetic polymorphisms is considered experimental or investigational for the purpose of managing treatment with tamoxifen for women at high risk for or with breast cancer as the evidence is insufficient to permit conclusions regarding the use of CYP2D6 genotyping for directing endocrine therapy regimen selection.

Warfarin Dose

(eSensor® Warfarin Sensitivity; INFINITI 2C9 & VKORC1 Multiplex Assay; Verigence Warfarin Metabolism Nucleic Acid Test®)

Genotyping to determine cytochrome p450 2C9 (CYP2C9) and vitamin K epoxide reductase subunit C1 (VKORC1) genetic polymorphisms is considered experimental or investigational for the purpose of managing the administration and dosing of warfarin, including use in guiding the initial warfarin dose to decrease time to stable INR and reduce the risk of serious bleeding. There is insufficient evidence in medical literature regarding the clinical utility and impact on clinical outcomes to permit conclusions on net health outcomes.

X Chromosome Abnormality Test (XCAT) for Turner Syndrome (XCAT-TS)

The use of the XCAT-TS test to detect Classic and Mosaic Turner Syndrome is considered experimental or investigational as there is insufficient clinical evidence in peer-reviewed literature to permit conclusions the test is as beneficial as the established alternatives and on net health outcomes

*Diagnostic Scoring System for LQTS

Criteria

Points

Electrocardiographic findings

* QTc >480 msec

3

* QTc 460-470 msec

2

* QTc <450 msec

1

History of torsades de pointes

2

T-wave alternans

1

Notched T-waves in three leads

1

Low heart rate for age

0.5

Clinical history

* Syncope brought on by stress

2

* Syncope without stress

1

* Congenital deafness

0.5

Family history

* Family members with definite LQTS

1

* Unexplained sudden death in immediate family members younger than 30 years of age

0.5

Genetic testing is considered experimental or investigational, as there is insufficient clinical evidence to support the use of genetic testing for screening the general population including genetic disease screening panels, as well as large comprehensive carrier screening panels, and whole genome and whole exome sequencing in which the entire DNA is sequenced. There is a lack of clinical data to permit conclusions on net health outcomes.

Home testing (including self-testing home kits) is considered experimental or investigational as the accuracy and clinical validity of the tests have not been established.

Genetic Counseling: Genetic counseling is covered in accordance to the member’s contract benefits for medical counseling. Pre and post genetic counseling meets the definition of medical necessity as an adjunct to the genetic test(s).

The following tests are considered experimental or investigational, as there is insufficient evidence to support the use of these tests for all indications. Although there are ongoing clinical studies the current data are inadequate to permit scientific conclusions on net health outcomes:

BILLING/CODING INFORMATION:

CPT Coding:

81161

DMD (dystrophin) (e.g., Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed

81170

ABL1 (ABL proto-oncogene 1, nonreceptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain

81200

ASPA (aspartoacylase) (e.g. Canavan disease) gene analysis, common variants (e.g. E285A, Y231X)

81205

BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (e.g. Maple syrup urine disease) gene analysis, common variants (e.g. R183P, G278S, E422X)

81206

BCR/ABL1 (t(9;22)) (e.g. chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative

81207

BCR/ABL1 (t(9;22)) (e.g. chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative

81208

BCR/ABL1 (t(9;22)) (e.g. chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative

81209

BLM (Bloom syndrome, RecQ helicase-like) (e.g. Bloom syndrome) gene analysis, 2281del6ins7 variant

81218

CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence

81219

CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9

81220

CFTR (cystic fibrosis transmembrane conductance regulator) (e.g. cystic fibrosis) gene analysis; common variants (e.g. ACMG/ACOG guidelines)

81221

CFTR (cystic fibrosis transmembrane conductance regulator) (e.g. cystic fibrosis) gene analysis; known familial variants

81222

CFTR (cystic fibrosis transmembrane conductance regulator) (e.g. cystic fibrosis) gene analysis; duplication/deletion variants

81223

CFTR (cystic fibrosis transmembrane conductance regulator) (e.g. cystic fibrosis) gene analysis; full gene sequence

81224

CFTR (cystic fibrosis transmembrane conductance regulator) (e.g. cystic fibrosis) gene analysis; intron 8 poly-T analysis (e.g. male infertility)

81225

CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (e.g. drug metabolism), gene analysis, common variants (e.g. *2, *3, *4, *8, *17) (Investigational)

81226

CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (e.g. drug metabolism), gene analysis, common variants (e.g. *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) (Investigational)

81227

CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (e.g. drug metabolism), gene analysis, common variants (e.g. *2, *3, *5, *6) (Investigational)

81228

Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g. Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

81229

Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities

81240

F2 (prothrombin, coagulation factor II) (e.g. hereditary hypercoagulability) gene analysis, 20210G>A variant (Investigational)

81241

F5 (coagulation Factor V) (e.g. hereditary hypercoagulability) gene analysis, Leiden variant (Investigational)

81242

FANCC (Fanconi anemia, complementation group C) (e.g. Fanconi anemia, type C) gene analysis, common variant (e.g. IVS4+4A>T)

81243

FMR1 (Fragile X mental retardation 1) (e.g. fragile X mental retardation) gene analysis; evaluation to detect abnormal (e.g. expanded) alleles

81244

FMR1 (Fragile X mental retardation 1) (e.g. fragile X mental retardation) gene analysis; characterization of alleles (e.g. expanded size and methylation status)

81245

FLT3 (fms-related tyrosine kinase 3) (e.g. acute myeloid leukemia), gene analysis, internal tandem duplication (ITD) variants (ie, exons 14, 15)

81246

FLT3 (fms‐related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase domain (TKD) variants (eg, D835, I836) (Investigational)

81250

G6PC (glucose-6-phosphatase, catalytic subunit) (e.g. Glycogen storage disease, Type 1a, von Gierke disease) gene analysis, common variants (e.g. R83C, Q347X)

81251

GBA (glucosidase, beta, acid) (e.g. Gaucher disease) gene analysis, common variants (e.g. N370S, 84GG, L444P, IVS2+1G>A)

81252

GJB2 (gap junction protein, beta 2, 26kDa; connexin 26) (e.g., nonsyndromic hearing loss) gene analysis; full gene sequence

81253

GJB2 (gap junction protein, beta 2, 26kDa; connexin 26) (e.g., nonsyndromic hearing loss) gene analysis; known familial variants

81254

GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (e.g., nonsyndromic hearing loss) gene analysis, common variants (e.g., 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)])

81255

HEXA (hexosaminidase A [alpha polypeptide]) (e.g. Tay-Sachs disease) gene analysis, common variants (e.g. 1278insTATC, 1421+1G>C, G269S)

81256

HFE (hemochromatosis) (e.g. hereditary hemochromatosis) gene analysis, common variants (e.g. C282Y, H63D)

81257

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g. alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions or variant (e.g. Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring)

81260

IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (e.g. familial dysautonomia) gene analysis, common variants (e.g. 2507+6T>C, R696P)

81261

IGH@ (Immunoglobulin heavy chain locus) (e.g. leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (e.g. polymerase chain reaction)

81262

IGH@ (Immunoglobulin heavy chain locus) (e.g. leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); direct probe methodology (e.g. Southern blot)

81263

IGH@ (Immunoglobulin heavy chain locus) (e.g. leukemia and lymphoma, B-cell), variable region somatic mutation analysis

81264

IGK@ (Immunoglobulin kappa light chain locus) (e.g. leukemia and lymphoma, B-cell), gene rearrangement analysis, evaluation to detect abnormal clonal population(s)

81265

Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (e.g. pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [e.g. buccal swab or other germline tissue sample] and donor testing, twin zygosity testing, or maternal cell contamination of fetal cells)

81266

Comparative analysis using Short Tandem Repeat (STR) markers; each additional specimen (e.g. additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure)

81267

Chimerism (engraftment) analysis, post transplantation specimen (e.g. hematopoietic stem cell), includes comparison to previously performed baseline analyses; without cell selection

81268

Chimerism (engraftment) analysis, post transplantation specimen (e.g. hematopoietic stem cell), includes comparison to previously performed baseline analyses; with cell selection (e.g. CD3, CD33), each cell type

81270

JAK2 (Janus kinase 2) (e.g. myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant

81272

KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg,gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma),gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18)

81273

KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg,mastocytosis), gene analysis, D816 variant(s)

81280

Long QT syndrome gene analyses (e.g. KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); full sequence analysis

81281

Long QT syndrome gene analyses (e.g. KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); known familial sequence variant

81282

Long QT syndrome gene analyses (e.g. KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1, and ANK2); duplication/deletion variants

81287

MGMT (O-6-methylguanine-DNA methyltransferase) (eg, glioblastoma multiforme), methylation analysis

81290

MCOLN1 (mucolipin 1) (e.g. Mucolipidosis, type IV) gene analysis, common variants (e.g. IVS3-2A>G, del6.4kb)

81291

MTHFR (5,10-methylenetetrahydrofolate reductase) (e.g. hereditary hypercoagulability) gene analysis, common variants (e.g. 677T, 1298C) (Investigational)

81302

MECP2 (methyl CpG binding protein 2) (e.g. Rett syndrome) gene analysis; full sequence analysis

81303

MECP2 (methyl CpG binding protein 2) (e.g. Rett syndrome) gene analysis; known familial variant

81304

MECP2 (methyl CpG binding protein 2) (e.g. Rett syndrome) gene analysis; duplication/deletion variants

81310

NPM1 (nucleophosmin) (e.g. acute myeloid leukemia) gene analysis, exon 12 variants

81311

NRAS (neuroblastoma RAS viral [v-ras] oncogene homolog) (eg, colorectal carcinoma), gene analysis, variants in exon 2 (eg, codons 12 and 13) and exon 3 (eg, codon 61) (investigational)

81313

PCA3/KLK3 (prostate cancer antigen 3 [non-protein coding]/kallikrein-related peptidase 3 [prostate specific antigen]) ratio (eg, prostate cancer) (Investigational)

81314

PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18)

81315

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (e.g. promyelocytic leukemia) translocation analysis; common breakpoints (e.g. intron 3 and intron 6), qualitative or quantitative

81316

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (e.g. promyelocytic leukemia) translocation analysis; single breakpoint (e.g. intron 3, intron 6 or exon 6), qualitative or quantitative

81321

PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis

81322

PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant

81323

PTEN (phosphatase and tensin homolog) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant

81324

PMP22 (peripheral myelin protein 22) (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis

81325

PMP22 (peripheral myelin protein 22) (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis

81326

PMP22 (peripheral myelin protein 22) (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant

81330

SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (e.g. Niemann-Pick disease, Type A) gene analysis, common variants (e.g. R496L, L302P, fsP330)

81331

SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (e.g. Prader-Willi syndrome and/or Angelman syndrome), methylation analysis

81332

SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (e.g. alpha-1-antitrypsin deficiency), gene analysis, common variants (e.g. *S and *Z)

81340

TRB@ (T cell antigen receptor, beta) (e.g. leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (e.g. polymerase chain reaction)

81341

TRB@ (T cell antigen receptor, beta) (e.g. leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using direct probe methodology (e.g. Southern blot)

81342

TRG@ (T cell antigen receptor, gamma) (e.g. leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s)

81350

UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (e.g. irinotecan metabolism), gene analysis, common variants (e.g. *28, *36, *37)

81355

VKORC1 (vitamin K epoxide reductase complex, subunit 1) (e.g. warfarin metabolism), gene analysis, common variants (e.g. -1639G>A, c.173+1000C>T)

81370

HLA Class I and II typing, low resolution (e.g. antigen equivalents); HLA-A, -B, -C, -DRB1/3/4/5, and DQB1

81371

HLA Class I and II typing, low resolution (e.g. antigen equivalents); HLA-A, -B, and DRB1 (e.g. verification typing)

81372

HLA Class I typing, low resolution (e.g. antigen equivalents); complete (ie, HLA-A, -B, and C)

81373

HLA Class I typing, low resolution (e.g. antigen equivalents); 1 locus (e.g. HLA-A, -B, or C), each

81374

HLA Class I typing, low resolution (e.g. antigen equivalents); 1 antigen equivalent (e.g. B*27), each

81375

HLA Class II typing, low resolution (e.g. antigen equivalents); HLA-DRB1/3/4/5 and DQB1

81376

HLA Class II typing, low resolution (e.g. antigen equivalents); 1 locus (e.g. HLA-DRB1, DRB3/4/5, -DQB1, -DQA1, -DPB1, or DPA1), each

81377

HLA Class II typing, low resolution (e.g. antigen equivalents); 1 antigen equivalent, each

81378

HLA Class I and II typing, high resolution (ie, alleles or allele groups), HLA-A, -B, -C, and DRB1

81379

HLA Class I typing, high resolution (ie, alleles or allele groups); complete (ie, HLA-A, -B, and C)

81380

HLA Class I typing, high resolution (ie, alleles or allele groups); 1 locus (e.g. HLA-A, -B, or C), each

81381

HLA Class I typing, high resolution (ie, alleles or allele groups); 1 allele or allele group (e.g. B*57:01P), each

81382

HLA Class II typing, high resolution (ie, alleles or allele groups); 1 locus (e.g. HLA-DRB1, -DRB3, -DRB4, -DRB5, -DQB1, -DQA1, -DPB1, or DPA1), each

81383

HLA Class II typing, high resolution (ie, alleles or allele groups); 1 allele or allele group (e.g. HLA-DQB1*06:02P), each

81400

Molecular pathology procedure, Level 1 (e.g. identification of single germline variant [e.g. SNP] by techniques such as restriction enzyme digestion or melt curve analysis)
ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain, MCAD) (e.g. medium chain acyl dehydrogenase deficiency), K304E variant
ACE (angiotensin converting enzyme) (e.g. hereditary blood pressure regulation), insertion/deletion variant
AGTR1 (angiotensin II receptor, type 1) (e.g. essential hypertension), 1166A>C variant
BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) (e.g., maple syrup urine disease, type 1A), Y438N variant
CCR5 (chemokine C-C motif receptor 5) (e.g. HIV resistance), 32-bp deletion mutation/794 825del32 deletion DPYD (dihydropyrimidine dehydrogenase) (e.g. 5-fluorouracil/5-FU and capecitabine drug metabolism), IVS14+1G>A variant
CLRN1 (clarin 1) (e.g., Usher syndrome, type 3) N48K variant
DPYD (dihydropyrimidine dehydrogenase) (e.g., 5-fluorouracil/5-FU and capecitabine drug metabolism), IVS14+1G>A variant
F2 (coagulation factor 2) (e.g. hereditary hypercoagulability), 1199G>A variant
F5 (coagulation factor V) (e.g. hereditary hypercoagulability), HR2 variant
F7 (coagulation factor VII [serum prothrombin conversion accelerator]) (e.g. hereditary hypercoagulability), R353Q variant
F13B (coagulation factor XIII, B polypeptide) (e.g. hereditary hypercoagulability), V34L variant
FGB (fibrinogen beta chain) (e.g. hereditary ischemic heart disease), -455G>A variant
FGFR1 (fibroblast growth factor receptor 1) (e.g., Pfeiffer syndrome type 1, craniosynostosis), P252R variant
FGFR3 (fibroblast growth factor receptor 3) (e.g., Muenke syndrome), P250R variant
FKTN (Fukutin) (e.g., Fukuyama congenital muscular dystrophy), retrotransposon insertion variant
GNE (glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) (e.g., inclusion body myopathy 2 [IBM2], Nonaka myopathy), M712T variant
Human Platelet Antigen 1 genotyping (HPA-1), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-1a/b (L33P)
Human Platelet Antigen 2 genotyping (HPA-2), GP1BA (glycoprotein Ib [platelet], alpha polypeptide [GPIba]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-2a/b (T145M)
Human Platelet Antigen 3 genotyping (HPA-3), ITGA2B (integrin, alpha 2b [platelet glycoprotein Iib of Iib/IIIa complex], antigen CD41 [GPIIb]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-3a/b (I843S)
Human Platelet Antigen 4 genotyping (HPA-4), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-4a/b (R143Q) Human Platelet Antigen 5 genotyping (HPA-5), ITGA2 (integrin, alpha 2 [CD49B, alpha 2 subunit of VLA-2 receptor] [GPIa]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-5a/b (K505E)
Human Platelet Antigen 6 genotyping (HPA-6w), ITGB3 (integrin, beta 3 [platelet glycoprotein IIIa, antigen CD61] [GPIIIa]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-6a/b (R489Q)
Human Platelet Antigen 9 genotyping (HPA-9w), ITGA2B (integrin, alpha 2b [platelet glycoprotein Iib of Iib/IIIa complex, antigen CD41] [GPIIb]) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-9a/b (V837M)
Human Platelet Antigen 15 genotyping (HPA-15), CD109 (CD109 molecule) (e.g. neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-15a/b(S682Y)
IL28B (interleukin 28B [interferon, lambda 3]) (e.g., drug response), rs12979860 variant
IVD (isovaleryl-CoA dehydrogenase) (e.g., isovaleric acidemial), A282V variant
LCT (lactase-phlorizin hydrolase) (e.g., lactose intolerance), 13910 C>T variant
NEB (nebulin) (e.g., nemaline myopathy 2), exon 55 deletion variant
PCDH15 (protocadherin-related 15) (e.g., Usher syndrome type 1F), R245X variant
SERPINE1 (serpine peptidase inhibitor clade E, member 1, plasminogen activator inhibitor -1, PAI-1) (e.g. thrombophilia), 4G variant
SHOC2 (soc-2 suppressor of clear homolog) (e.g., Noonan-like syndrome with loose anagen hair), S2G variant
SLCO1B1 (solute carrier organic anion transporter family, member 1B1) (e.g., adverse drug reaction), V174A variant
SMN1 (survival of motor neuron 1, telomeric) (e.g., spinal muscular atrophy), exon 7 deletion
SRY (sex determining region Y) (e.g., 46,XX testicular disorder of sex development, gonadal dysgenesis), gene analysis
TOR1A (torsin family 1, member A [torsin A]) (e.g., early onset primary dystonia [DYT1]), 907_909delGAG (904_906delGAG) variant

81401

Molecular pathology procedure, Level 2 (e.g. 2-10 SNPs, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat)
ABCC8 (ATP-binding cassette, sub-family C CFTR/MRP], member 8) (e.g., familial hyperinsulinism), common variants (e.g., c.3898-9G>A [c. 3992-9G>A], F1388del)
ABL (c-abl oncogene 1, receptor tyrosine kinase) (e.g., acquired imatinib resistance), T315I variant
ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain, MCAD) (e.g., medium chain acyl dehydrogenase deficiency), commons variants (e.g., K304E, Y42H)
ADRB2 (adrenergic beta-2 receptor surface) (e.g., drug metabolism), common variants (e.g., G16R, Q27E)
AFF2 (AF4/FMR2 family, member 2 [FMR2]) (e.g., fragile X mental retardation 2 [FRAXE]), evaluation to detect abnormal (e.g., expanded) alleles
APOB (apolipoprotein B) (e.g., familial hypercholesterolemia type B), common variants (e.g., R3500Q, R3500W)
APOE (apolipoprotein E) (e.g., hyperlipoproteinemia type III, cardiovascular disease, Alzheimer
disease), common variants (e.g., *2, *3, *4)
AR (androgen receptor) (e.g., spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation), characterization of alleles (e.g., expanded size or methylation status)
ATN1 (atrophin 1) (e.g., dentatorubral-pallidoluysian atrophy), evaluation to detect abnormal (e.g., expanded) alleles
ATXN1 (ataxin 1) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
ATXN2 (ataxin 2) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
ATXN3 (ataxin 3) (e.g., spinocerebellar ataxia, Machado-Joseph disease), evaluation to detect abnormal (e.g., expanded) alleles
ATXN7 (ataxin 7) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
ATXN8OS (ATXN8 opposite strand [non-protein coding]) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
ATXN10 (ataxin 10) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
CACNA1A (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
CBFB/MYH11 (inv(16)) (e.g., acute myeloid leukemia), qualitative, and quantitative, if performed
CBS (cystathionine-beta-synthase) (e.g., homocystinuria, cystathionine beta-synthase deficiency), common variants (e.g., I278T, G307S)
CCND1/IGH (BCL1/IgH, t(11;14)) (e.g., mantle cell lymphoma) translocation analysis, major breakpoint, qualitative, and quantitative, if performed
CFH/ARMS2 (complement factor H/age-related maculopathy susceptibility 2) (e.g., macular degeneration), common variants (e.g., Y402H [CFH], A69S [ARMS2])
CNBP (CCHC-type zinc finger, nucleic acid binding protein) (e.g., myotonic dystrophy type 2), evaluation to detect abnormal (e.g., expanded) alleles
CSTB (cystatin B [stefin B]) (e.g., Unverricht-Lundborg disease), evaluation to detect abnormal (e.g., expanded) alleles
CYP3A4 (cytochrome P450, family 3, subfamily A, polypeptide 4) (e.g., drug metabolism), common variants (e.g., *2, *3, *4, *5, *6)
CYP3A5 (cytochrome P450, family 3, subfamily A, polypeptide 5) (e.g., drug metabolism), common variants (e.g., *2, *3, *4, *5, *6)
DEK/NUP214 (t(6;9)) (eg, acute myeloid leukemia), translocation analysis, qualitative, and quantitative, if performed
DMPK (dystrophia myotonica-protein kinase) (e.g., myotonic dystrophy, type 1), evaluation to detect abnormal (e.g., expanded) alleles
E2A/PBX1 (t(1;19)) (e.g., acute lymphocytic leukemia), translocation analysis, qualitative, and quantitative, if performed
EML4/ALK (inv(2)) (e.g., non-small cell lung cancer), translocation or inversion analysis
ETV6/NTRK3 (t(12;15)) (e.g., congenital/infantile fibrosarcoma), translocation analysis, qualitative, and quantitative, if performed
ETV6/RUNX1 (t(12;21)) (e.g., acute lymphocytic leukemia), translocation analysis, qualitative, and quantitative, if performed
EWSR1/ATF1 (t(12;22)) (e.g., clear cell sarcoma), translocation analysis, qualitative, and quantitative, if performed
EWSR1/ERG (t(21;22)) (e.g., Ewing sarcoma/peripheral neuroectodermal tumor), translocation analysis, qualitative, and quantitative, if performed
EWSR1/FLI1 (t(11;22)) (e.g., Ewing sarcoma/peripheral neuroectodermal tumor), translocation analysis, qualitative, and quantitative, if performed
EWSR1/WT1 (t(11;22)) (e.g., desmoplastic small round cell tumor), translocation analysis, qualitative, and quantitative, if performed
F11 (coagulation factor XI) (e.g., coagulation disorder), common variants (e.g., E117X [Type II], F283L [Type III], IVS14del14, and IVS14+1G>A [Type I])
FGFR3 (fibroblast growth factor receptor 3) (e.g., achondroplasia, hypochondroplasia), common variants (e.g., 1138G>A, 1138G>C, 1620C>A, 1620C>G)
FIP1L1/PDGFRA (del[4q12]) (e.g., imatinib-sensitive chronic eosinophilic leukemia), qualitative, and quantitative, if performed
FLG (filaggrin) (e.g., icthyosis vulgaris), common variants (e.g., R501X, 2282del4, R2447X, S3247X, 3702delG)
FOXO1/PAX3 (t(1;13)) (e.g., alveolar rhabdomyosarcoma), translocation analysis, qualitative, and quantitative, if performed
FOXO1/PAX7 (t(2;13)) (e.g., alveolar rhabdomyosarcoma), translocation analysis, qualitative, and quantitative, if performed
FXN (frataxin) (e.g., Friedreich ataxia), evaluation to detect abnormal (expanded) alleles
FUS/DDIT3 (t(12;16)) (e.g., myxoid liposarcoma), translocation analysis, qualitative, and quantitative, if performed
GALC (galactosylceramidase) (e.g., Krabbe disease), common variants (e.g., c.857G>A, 30-kb deletion)
GALT (galactose-1-phosphate uridylyltransferase) (e.g., galactosemia), common variants (e.g., Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2A>G, P171S, del5kb, N314D, L218L/N314D)
GNAQ (guanine nucleotide-binding protein G[q] subunit alpha)(e.g., uveal melanoma), common variants (e.g., R183, Q209)
H19 (imprinted maternally expressed transcript [nonprotein coding]) (e.g., Beckwith-Wiedemann syndrome), methylation analysis
HBB (hemoglobin, beta) (e.g., sickle cell anemia, hemoglobin C, hemoglobin E), common variants (e.g., HbS, HbC, HbE)
IGH@/BCL2 (t(14;18)) (eg, follicular lymphoma), translocation analysis; single breakpoint (eg, major breakpoint region [MBR] or minor cluster region [mcr]), qualitative or qua
ntitative
HTT (huntingtin) (e.g., Huntington disease), evaluation to detect abnormal (e.g., expanded) alleles
KCNQ1OT1 (KCNQ1 overlapping transcript 1 [non-protein coding]) (e.g., Beckwith-Wiedemann syndrome), methylation analysis
LRRK2 (leucine-rich repeat kinase 2) (e.g., Parkinson disease), common variants (e.g., R1441G, G2019S, I2020T)
MED12 (mediator complex subunit 12) (e.g., FG syndrome type 1, Lujan syndrome), common variants (e.g., R961W, N1007S)
MEG3/DLK1 (maternally expressed 3 [non-protein coding]/delta-like 1 homolog [Drosophila]) (e.g., intrauterine growth retardation), methylation analysis
MLL/AFF1 (t(4;11)) (e.g., acute lymphoblastic leukemia), translocation analysis, qualitative, and quantitative, if performed
MLL/MLLT3 (t(9;11)) (e.g., acute myeloid leukemia), translocation analysis, qualitative, and quantitative, if performed
MT-RNR1 (mitochondrially encoded 12S RNA) (e.g., nonsyndromic hearing loss), common variants (e.g., m.1555A>G, m.1494C>T)
MUTYH (mutY homolog [E. coli]) (e.g., MYH-associated polyposis), common variants (e.g., Y165C, G382D)
MT-ATP6 (mitochondrially encoded ATP synthase 6) (e.g., neuropathy with ataxia and retinitis pigmentosa [NARP], Leigh syndrome), common variants (e.g., m.8993T>G, m.8993T>C)
MT-ND4, MT-ND6 (mitochondrially encoded NADH dehydrogenase 4, mitochondrially encoded NADH dehydrogenase 6) (e.g., Leber hereditary optic neuropathy [LHON]), common variants (e.g., m.11778G>A, m.3460G>A, m.14484T>C)
MT-TK (mitochondrially encoded tRNA lysine) (e.g., myoclonic epilepsy with ragged-red fibers [MERRF]), common variants (e.g., m.8344A>G, m.8356T>C)
MT-TL1 (mitochondrially encoded tRNA leucine 1 [UUA/G]) (e.g., diabetes and hearing loss), common variants (e.g., m.3243A>G, m.14709 T>C) MT-TL1,
MT-ND5 (mitochondrially encoded tRNA leucine 1 [UUA/G], mitochondrially encoded NADH dehydrogenase 5) (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [MELAS]), common variants (e.g., m.3243A>G, m.3271T>C, m.3252A>G, m.13513G>A)
MT-TS1, MT-RNR1 (mitochondrially encoded tRNA serine 1 [UCN], mitochondrially encoded 12S RNA) (e.g., nonsyndromic sensorineural deafness [including aminoglycoside-induced nonsyndromic deafness]), common variants (e.g., m.7445A>G, m.1555A>G)
NOD2 (nucleotide-binding oligomerization domain containing 2) (e.g., Crohn’s disease, Blau syndrome), common variants (e.g., SNP 8, SNP 12, SNP 13)
NPM1/ALK (t(2;5)) (e.g., anaplastic large cell lymphoma), translocation analysis
PABPN1 (poly[A] binding protein, nuclear 1) (e.g., oculopharyngeal muscular dystrophy), evaluation to detect abnormal (e.g., expanded) alleles
PAX8/PPARG (t(2;3) (q13;p25)) (e.g., follicular thyroid carcinoma), translocation analysis
PPP2R2B (protein phosphatase 2, regulatory subunit B, beta) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
PRSS1 (protease, serine, 1 [trypsin 1]) (e.g., hereditary pancreatitis), common variants (e.g., N29I, A16V, R122H)
PYGM (phosphorylase, glycogen, muscle) (e.g., glycogen storage disease type V, McArdle disease), common variants (e.g., R50X, G205S)
RUNX1/RUNX1T1 (t(8;21)) (e.g., acute myeloid leukemia) translocation analysis, qualitative, and quantitative, if performed
SEPT9 (Septin 9) (e.g., colon cancer), methylation analysis
SMN1/SMN2 (survival of motor neuron 1, telomeric/survival of motor neuron 2, centromeric) (e.g., spinal muscular atrophy), dosage analysis (e.g., carrier testing)
SS18/SSX1 (t(X;18)) (e.g., synovial sarcoma), translocation analysis, qualitative, and quantitative, if performed
SS18/SSX2 (t(X;18)) (e.g., synovial sarcoma), translocation analysis, qualitative, and quantitative, if performed
TBP (TATA box binding protein) (e.g., spinocerebellar ataxia), evaluation to detect abnormal (e.g., expanded) alleles
TPMT (thiopurine S-methyltransferase) (e.g., drug metabolism), common variants (e.g., *2, *3)
TYMS (thymidylate synthetase) (e.g., 5-fluorouracil/5-FU drug metabolism), tandem repeat variant
VWF (von Willebrand factor) (e.g., von Willebrand disease type 2N), common variants (e.g., T791M, R816W, R854Q)

81402

Molecular pathology procedure, Level 3 (e.g., > 10 SNPs, 2-10 methylated variants, or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants 1 exon, loss of heterozygosity [LOH], uniparental disomy [UPD])
Chromosome 18q- (e.g., D18S55, D18S58, D18S61, D18S64, and D18S69) (e.g., colon cancer), allelic imbalance assessment (i.e., loss of heterozygosity)

Chromosome 1p-/19q- (eg, glial tumors), deletion analysis
COL1A1/PDGFB (t(17;22)) (e.g., dermatofibrosarcoma protuberans), translocation analysis, multiple breakpoints, qualitative, and quantitative, if performed
CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) (e.g. congenital adrenal hyperplasia, 21-hydroxylase deficiency), common variants (e.g. IVS2-13G, P30L, I172N, exon 6 mutation cluster [I235N, V236E, M238K], V281L, L307FfsX6, Q318X, R356W, P453S, G110VfsX21, 30-kb deletion variant)
ESR1/PGR (receptor 1/progesterone receptor) ratio (e.g. breast cancer)
IGH@/BCL2 (t(14;18)) (e.g., follicular lymphoma) translocation analysis; major breakpoint region (MBR) and minor cluster region (mcr) breakpoints, qualitative or quantitative
MEFV (Mediterranean fever) (e.g. familial Mediterranean fever), common variants (e.g. E148Q, P369S, F479L, M680I, I692del, M694V, M694I, K695R, V726A, A744S, R761H)
MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (e.g. myeloproliferative disorder), common variants (e.g. W515A, W515K, W515L, W515R)
TRD@ (T cell antigen receptor, delta) (e.g. leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population
Uniparental disomy (UPD) (e.g., Russell-Silver syndrome, Prader-Willi/Angelman syndrome), short tandem repeat (STR) analysis

81403

Molecular pathology procedure, Level 4 (e.g. analysis of single exon by DNA sequence analysis, analysis of > 10 amplicons using multiplex PCR in 2 or more independent reactions, mutation scanning or duplication/deletion variants of 2-5 exons)
ANG (angiogenin, ribonuclease, Rnase A family, 5) (e.g., amyotrophic lateral sclerosis), full gene sequence
ARX (aristaless related homeobox) (e.g., X-linked lissencephaly with ambiguous genitalia, X-linked mental retardation), duplication/deletion analysis
CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (e.g., acute myeloid leukemia), full gene sequence
CEL (carboxyl ester lipase [bile salt-stimulated lipase]) (e.g., maturity-onset diabetes of the young [MODY]), targeted sequence analysis of exon 11 (e.g., c.1785delC, c.1686delT)
CTNNB1 (catenin [cadherin-associated protein], beta 1, 88kDa) (e.g., desmoid tumors), targeted sequence analysis (e.g., exon 3)
DAZ/SRY (deleted in azoospermia and sex determining region Y) (e.g. male infertility), common deletions (e.g. AZFa, AZFb, AZFc, AZFd)
DNMT3A (DNA [cytosine-5-]-methyltransferase 3 alpha) (e.g., acute myeloid leukemia), targeted sequence analysis (e.g., exon 23)
EPCAM (epithelial cell adhesion molecule) (e.g., Lynch syndrome), duplication/deletion analysis
F8 (coagulation factor Vlll) (e.g., hemophilia A), inversion analysis, intron 1 and intron 22A
F12 (coagulation factor XII [Hageman factor]) (e.g., angioedema, hereditary, type III; factorXII deficiency), targeted sequence analysis of exon 9
FGFR3 (fibroblast growth factor receptor 3) (e.g., isolated craniosynostosis), targeted sequence analysis (e.g., exon 7)
GJB1 (gap junction protein, beta 1) (e.g. Charcot-Marie-Tooth X-linked), full gene sequence
HBB (hemoglobin, beta, beta-globin) (e.g., beta thalassemial), duplication/deletion analysis
HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) (e.g., Costello syndrome), exon 2 sequence
IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (e.g., gliom), common exon 4 variants (e.g., R132H, R132C)
IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondria (e.g., glimoa), common exon 4 variants (e.g., R140W, R172M)
JAK2 (Janus kinase 2) (e.g. myeloproliferative disorder), exon 12 sequence and exon 13 sequence, if performed
KCNC3 (potassium voltage-gated channel, Shaw-related subfamily, member 3) (e.g., spinocerebellar ataxia), targeted sequence analysis (e.g., exon 2)
KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) (e.g., familial hyperinsulinism), full gene sequence
KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2) (e.g., Andersen-Tawil syndrome), full gene sequence
Killer cell immunoglobulin-like receptor (KIR) gene family (e.g., hematopoietic stem cell transplantation), genotyping of KIR family genes
Known familial variant not otherwise specified, for gene listed in Tier 1 or Tier 2, DNA sequence
analysis, each variant exon
MC4R (melanocortin 4 receptor) (e.g., obesity), full gene sequence
MICA (MHC class I polypeptide-related sequence A) (e.g., solid organ transplantation), common variants (e.g., *001, *002)
MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (e.g. myeloproliferative disorder), exon 10 sequence
MT-RNR1 (mitochondrially encoded 12S RNA) (e.g., nonsyndromic hearing loss), full gene sequence
MT-TS1 (mitochondrially encoded tRNA serine 1) (e.g., nonsyndromic hearing loss), full gene sequence
NDP (Norrie disease [pseudoglioma]) (e.g., Norrie disease), duplication/deletion analysis
NHLRC1 (NHL repeat containing 1) (e.g., progressive myoclonus epilepsy), full gene sequence
PHOX2B (paired-like homeobox 2b) (e.g., congenital central hypoventilation syndrome), duplication/deletion analysis
PLN (phospholamban) (e.g., dilated cardiomyopathy, hypertrophic cardiomyopathy), full gene Sequence SH2D1A (SH2 domain containing 1A) (e.g., X-linked lymphoproliferative syndrome), duplication/deletion analysis
SMN1 (survival of motor neuron 1, telomeric) (e.g., spinal muscular atrophy), known familial sequence variant(s)
TWIST1 (twist homolog 1 [Drosophila]) (e.g., Saethre-Chotzen syndrome), duplication/deletion analysis
UBA1 (ubiquitin-like modifier activating enzyme 1) (e.g., spinal muscular atrophy, X-linked), targeted sequence analysis (e.g., exon 15)
VHL (von Hippel-Lindau tumor suppressor) (e.g. von Hippel-Lindau familial cancer syndrome), deletion/duplication analysis
VWF (von Willebrand factor) (e.g. von Willebrand disease types 2A, 2B, 2M), targeted sequence analysis (e.g. exon 28)

81404

Molecular pathology procedure, Level 5 (e.g. analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis)
ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain, (e.g., short chain acyl-CoA dehydrogenase deficiency), targeted sequence analysis (e.g., exons 5 and 6)
AFF2 (AF4/FMR2 family, member 2 [FMR2]) (e.g., fragile X mental retardation 2 [FRAXE]), characterization of alleles (e.g., expanded size and methylation status)
AQP2 (aquaporin 2 [collecting duct]) (e.g., nephrogenic diabetes insipidus), full gene sequence
ARX (aristaless related homeobox) (e.g., X-linked lissencephaly with ambiguous genitalia, X-linked mental retardation), full gene sequence
AVPR2 (arginine vasopressin receptor 2) (e.g., nephrogenic diabetes insipidus), full gene sequence
BBS10 (Bardet-Biedl syndrome 10) (e.g., Bardet-Biedl syndrome), full gene sequence
BTD (biotinidase) (e.g. biotinidase deficiency), full gene sequence
C10orf2 (chromosome 10 open reading frame 2) (e.g., mitochondrial DNA depletion syndrome), full gene sequence
CAV3 (caveolin 3) (e.g., CAV3-related distal myopathy, limb-girdle muscular dystrophy type 1C), full gene sequence
CD40LG (CD40 ligand) (e.g., X-linked hyper IgM syndrome), full gene sequence
CDKN2A (cyclin-dependent kinase inhibitor 2A) (e.g., CDKN2A-related cutaneous malignant melanoma, familial atypical mole-malignant melanoma syndrome), full gene sequence
CLRN1 (clarin 1) (e.g., Usher syndrome, type 3), full gene sequence
CPT2 (carnitine palmitoyltransferase 2) (e.g., carnitine palmitoyltransferase ll deficiency), full gene sequence
COX6B1 (cytochrome c oxidase subunit Vib polypeptide 1) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
CPT2 (carnitine palmitoyltransferase 2) (e.g., carnitine palmitoyltransferase II deficiency), full gene Sequence
CRX (cone-rod homeobox) (e.g., cone-rod dystrophy 2, Leber congenital amaurosis), full gene Sequence
CSTB (cystatin B [stefin B]) (e.g., Unverricht-Lundborg disease), full gene sequence
CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) (e.g. primary congenital glaucoma), full gene sequence
DMPK (dystrophia myotonica-protein kinase) (e.g. myotonic dystrophy type 1), characterization of abnormal (e.g. expanded) alleles
EGR2 (early growth response 2) (e.g. Charcot-Marie-Tooth), full gene sequence
EMD (emerin) (e.g., Emery-Dreifuss muscular dystrophy), duplication/deletion analysis
EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease [laforin]) (e.g., progressive myoclonus epilepsy), full gene sequence
FGFR2 (fibroblast growth factor receptor 2) (e.g., craniosynostosis, Apert syndrome, Crouzon syndrome), targeted sequence analysis (e.g., exons 8, 10)
FGFR3 (fibroblast growth factor receptor 3) (e.g., achondroplasia, hypochondroplasia), targeted sequence analysis (e.g., exons 8, 11, 12, 13)
FGF23 (fibroblast growth factor 23) (e.g., hypophosphatemic rickets), full gene sequence
FHL1 (four and a half LIM domains 1) (e.g., Emery-Dreifuss muscular dystrophy), full gene sequence
FKRP (Fukutin related protein) (e.g. congenital muscular dystrophy type 1C [MDC1C], limb-girdle muscular dystrophy [LGMD] type 2I), full gene sequence
FOXG1 (forkhead box G1) (e.g. Rett syndrome), full gene sequence
FSHMD1A (facioscapulohumeral muscular dystrophy 1A) (e.g. facioscapulohumeral muscular dystrophy), evaluation to detect abnormal (e.g. deleted) alleles
FSHMD1A (facioscapulohumeral muscular dystrophy 1A) (e.g. facioscapulohumeral muscular dystrophy), characterization of haplotype(s) (ie, chromosome 4A and 4B haplotypes)
FXN (frataxin) (e.g., Friedreich ataxia), full gene sequence
GH1 (growth hormone 1) (e.g., growth hormone deficiency), full gene sequence
GP1BB (glycoprotein Ib [platelet], beta polypeptide) (e.g., Bernard-Soulier syndrome type B), full gene Sequence
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., alpha thalassemia), duplication/deletion analysis
HBB (hemoglobin, beta, Beta-Globin) (e.g. thalassemia), full gene sequence
HNF1B (HNF1 homebox B) (e.g., maturity-onset diabetes of the young [MODY], duplication/deletion analysis
HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) (e.g., Costello syndrome), full gene sequence
HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) (e.g., 3-beta-hydroxysteroid dehydrogenase type II deficiency), full gene sequence
HSD11B2 (hydroxysteroid [11-beta] dehydrogenase 2) (e.g., mineralocorticoid excess syndrome), full gene sequence
HSPB1 (heat shock 27kDa protein 1) (e.g., Charcot-Marie-Tooth disease), full gene sequence
INS (insulin) (e.g., diabetes mellitus), full gene sequence
KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) (e.g., Bartter syndrome), full gene sequence
KCNj10 (potassium inwardly-rectifying channel, subfamily J, member 10) (e.g., SeSAME syndrome, EAST syndrome, sensorineural hearing loss), full gene sequence
LITAF (lipopolysaccharide-induced TNF factor) (e.g. Charcot-Marie-Tooth), full gene sequence
MEFV (Mediterranean fever) (e.g. familial Mediterranean fever), full gene sequence
MEN1 (multiple endocrine neoplasia 1) (e.g., multiple endocrine neoplasia type 1, Wermer syndrome), duplication/deletion analysis
MMACHC (methylmalonic aciduria [cobalamin deficiency] cblC type, with homocystinuria) (e.g., methylmalonic acidemia and homocystinuria), full gene sequence

MPV17 (MpV17 mitochondrial inner membrane protein) (eg, mitochondrial DNA depletion syndrome), duplication/deletion analysis
NDP (Norrie disease [pseudoglioma]) (e.g., Norrie disease), full gene sequence
NDUFA1 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 1, 7.5kDa) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFAF2 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, assembly factor 2) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFS4 (NADH dehydrogenase [ubiquinone] Fe-S protein 4, 18kDa [NADH-coenzyme Q reductase]) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) (e.g., spastic paraplegia), full gene Sequence
NLGN4X (neuroligin 4, X-linked) (e.g., autism spectrum disorders), duplication/deletion analysis
NPC2 (Niemann-Pick disease, type C2 [epididymal secretory protein E1]) (e.g., Niemann-Pick disease type C2), full gene sequence
NR0B1 (nuclear receptor subfamily 0, group B, member 1) (e.g., congenital adrenal hypoplasia), full gene sequence
PDX1 (pancreatic and duodenal homeobox 1) (e.g., maturity-onset diabetes of the young [MODY]), full gene sequence
PHOX2B (paired-like homeobox 2b) (e.g., congenital central hypoventilation syndrome), full gene Sequence

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha) (eg, colorectal cancer) targeted sequence analysis (eg, exon 9 and 20)
PLP1 (proteolipid protein 1) (e.g., Pelizaeus-Merzbacher disease, spastic paraplegia), duplication/deletion analysis
PQBP1 (polyglutamine binding protein 1) (e.g., Renpenning syndrome), duplication/deletion analysis
PRNP (prion protein) (e.g., genetic prion disease), full gene sequence
PROP1 (PROP paired-like homeobox 1) (e.g., combined pituitary hormone deficiency), full gene Sequence
PRPH2 (peripherin 2 [retinal degeneration, slow]) (e.g., retinitis pigmentosa), full gene sequence
PRSS1 (protease, serine, 1[trypsin 1]) (e.g., hereditary pancreatitis), full gene sequence
RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1) (e.g., LEOPARD syndrome), targeted sequence analysis (e.g., exons 7, 12, 14, 17)
RET (ret proto-oncogene) (e.g. multiple endocrine neoplasia, type 2B and familial medullary thyroid carcinoma), common variants (e.g. M918T, 2647_2648delinsTT, A883F)
RHO (rhodopsin) (e.g., retinitis pigmentosa), full gene sequence
RP1 (retinitis pigmentosa 1) (e.g., retinitis pigmentosa), full gene sequence
SCN1B (sodium channel, voltage-gated, type I, beta) (e.g., Brugada syndrome), full gene sequence
SCO2 (SCO cytochrome oxidase deficient homolog 2 [SCO1L]) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) (e.g., hereditary paraganglioma-pheochromocytoma syndrome), duplication/deletion analysis
SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) (e.g. hereditary paraganglioma), full gene sequence
SGCG (sarcoglycan, gamma [35kDa dystrophin-associated glycoprotein]) (e.g., limb-girdle muscular dystrophy), duplication/deletion analysis
SH2D1A (SH2 domain containing 1A) (e.g., X-linked lymphoproliferative syndrome), full gene sequence
SLC16A2 (solute carrier family 16, member 2 [thyroid hormone transporter]) (e.g., specific thyroid
hormone cell transporter deficiency, Allan-Herndon-Dudley syndrome), duplication/deletion analysis
SLC25A20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (e.g., carnitine-
acylcarnitine translocase deficiency), duplication/deletion analysis
SLC25A4 (solute carrier family 25[mitochondrial carrier; adenine nucleotide translocator], member 4) (e.g., progressive external ophthalmoplegia), full gene sequence
SOD1 (superoxide dismutase 1, soluble) (e.g., amyotrophic lateral sclerosis), full gene sequence
SPINK1 (serine peptidase inhibitor, Kazal type 1) (e.g., hereditary pancreatitis), full gene sequence
STK11 (serine/threonine kinase 11) (e.g., Peutz-Jeghers syndrome), duplication/deletion analysis
TACO1 (translational activator of mitochondrial encoded cytochrome c oxidase I) (e.g., mitochondrial
respiratory chain complex IV deficiency), full gene sequence
THAP1 (THAP domain containing, apoptosis associated protein 1) (e.g., torsion dystonia), full gene Sequence
TOR1A (torsin family 1, member A [torsin A]) (e.g., torsion dystonia), full gene sequence
TP53 (tumor protein 53) (e.g., tumor samples), targeted sequence analysis of 2-5 exons
TTPA (tocopherol [alpha] transfer protein) (e.g., ataxia), full gene sequence
TTR (transthyretin) (e.g., familial transthyretin amyloidosis), full gene sequence
TWIST1 (twist homolog 1 [Drosophila]) (e.g., Saethre-Chotzen syndrome), full gene sequence
TYR (tyrosinase [oculocutaneous albinism [A]) (e.g., oculocutaneous albinism lA), full gene sequence
USH1G (Usher syndrome 1G [autosomal recessive]) (e.g., Usher syndrome, type 1) full gene sequence
VHL (von Hippel-Lindau tumor suppressor) (e.g. von Hippel-Lindau familial cancer syndrome), full gene sequence VWF (von Willebrand factor) (e.g. von Willebrand disease type 1C), targeted sequence analysis (e.g. exons 26, 27, 37)
VWF (von Willebrand factor) (e.g., von Willebrand disease type 1C), targeted sequence analysis (e.g., exons 26, 27, 37)
ZEB2 (zinc finger E-box binding homeobox 2) (e.g., Mowat-Wilson syndrome), duplication/deletion Analysis
ZNF41 (zinc finger protein 41) (e.g., X-linked mental retardation 89), full gene sequence

81405

Molecular pathology procedure, Level 6 (e.g. analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis)
ABCD1 (ATP-binding cassette, sub-family D [ALD], member 1) (e.g., adrenoleukodystrophy), full gene sequence
ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) (e.g., short chain acyl-CoA dehydrogenase deficiency), full gene sequence
ACTA2 (actin, alpha 2, smooth muscle, aorta) (e.g., thoracic aortic aneurysms and aortic dissections), full gene sequence
ACTC1 (actin, alpha, cardiac muscle 1) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
ANKRD1 (ankyrin repeat domain 1) (e.g., dilated cardiomyopathy), full gene sequence
APTX (aprataxin) (e.g., ataxia with oculomotor apraxia 1), full gene sequence
AR (androgen receptor) (e.g., androgen insensitivity syndrome), full gene sequence
ARSA (arylsulfatase A) (e.g., arylsulfatase A deficiency), full gene sequence
BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide) (e.g., maple syrup urine disease, type 1A), full gene sequence
BCS1L (BCS1-like [S. cerevisiae]) (e.g., Leigh syndrome, mitochondrial complex III deficiency, GRACILE syndrome), full gene sequence
BMPR2 (bone morphogenetic protein receptor, type II [serine/threonine kinase]) (e.g., heritable pulmonary arterial hypertension), duplication/deletion analysis
CASQ2 (calsequestrin 2 [cardiac muscle]) (e.g., catecholaminergic polymorphic ventricular tachycardia), full gene sequence
CASR (calcium-sensing receptor) (e.g., hypocalcemia), full gene sequence
CDKL5 (cyclin-dependent kinase-like 5) (e.g., early infantile epileptic encephalopathy), duplication/deletion analysis
CHRNA4 (cholinergic receptor, nicotinic, alpha 4) (e.g., nocturnal frontal lobe epilepsy), full gene sequence
CHRNB2 (cholinergic receptor, nicotinic, beta 2 [neuronal]) (e.g., nocturnal frontal lobe epilepsy), full gene sequence
COX10 (COX10 homolog, cytochrome c oxidase assembly protein) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
COX15 (COX15 homolog, cytochrome c oxidase assembly protein) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1) (e.g., congenital adrenal hyperplasia), full gene sequence
CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1) (e.g., congenital adrenal hyperplasia), full gene sequence
CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide2) (e.g. steroid 21-hydroxylase isoform, congenital adrenal hyperplasia), full gene sequence
Cytogenomic constitutional targeted microarray analysis of chromosome 22q13 by interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities
Cytogenomic constitutional targeted microarray analysis of the X chromosome by interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities
DBT (dihydrolipoamide branched chain transacylase E2) (e.g., maple syrup urine disease, type 2), duplication/deletion analysis
DCX (doublecortin) (e.g., X-linked lissencephaly), full gene sequence
DES (desmin) (e.g., myofibrillar myopathy), full gene sequence
DFNB59 (deafness, autosomal recessive 59) (e.g., autosomal recessive nonsyndromic hearing impairment), full gene sequence
DGUOK (deoxyguanosine kinase) (e.g., hepatocerebral mitochondrial DNA depletion syndrome), full gene sequence
DHCR7 (7-dehydrocholesterol reductase) (e.g., Smith-Lemli-Opitz syndrome), full gene sequence
EIF2B2 (eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa) (e.g., leukoencephalopathy with vanishing white matter), full gene sequence
EMD (emerin) (e.g., Emery-Dreifuss muscular dystrophy), full gene sequence
ENG (endoglin) (e.g., hereditary hemorrhagic telangiectasia, type 1), duplication/deletion analysis
EYA1 (eyes absent homolog 1[Drosophila]) (e.g., branchio-oto-renal [BOR] spectrum disorders), duplication/deletion analysis
F9 (coagulation factor lX) (e.g., hemophilia B), full gene sequence
FGFR1 (fibroblast growth factor receptor 1) (e.g., Kallmann syndrome), full gene sequence
FH (fumarate hydratase) (e.g., fumarate hydratase deficiency, hereditary leiomyomatosis with renal cell cancer), full gene sequence
FKTN (fukutin) (e.g. limb-girdle muscular dystrophy [LGMD] type 2M or 2L), full gene sequence
FTSJ1 (FtsJ RNA methyltransferase homolog 1 [E. coli]) (e.g., X-linked mental retardation 9), duplication/deletion analysis
GABRG2 (gamma-aminobutyric acid [GABA] A receptor, gamma 2) (e.g., generalized epilepsy with febrile seizures), full gene sequence
GCH1 (GTP cyclohydrolase 1) (e.g., autosomal dominant dopa-responsive dystonia), full gene sequence
GDAP1 (ganglioside-induced differentiation-associated protein 1) (e.g., Charcot-Marie-Tooth disease), full gene sequence
GFAP (glial fibrillary acidic protein) (e.g., Alexander disease), full gene sequence
GHR (growth hormone receptor) (e.g., Laron syndrome), full gene sequence
GHRHR (growth hormone releasing hormone receptor) (e.g., growth hormone deficiency), full gene sequence
GLA (galactosidase, alpha) (e.g., Fabry disease), full gene sequence
HBA1/HBA2 (alpha globin 1 and alpha globin 2) (e.g., thalassemia), full gene sequence
HNF1A (HNF1 homeobox A) (e.g., maturity-onset diabetes of the young [MODY]), full gene sequence
HNF1B (HNF1 homeobox B) (e.g., maturity-onset diabetes of the young [MODY]), full gene sequence
HTRA1 (HtrA serine peptidase 1) (e.g., macular degeneration), full gene sequence
IDS (iduronate 2-sulfatase) (e.g., mucopolysacchridosis, type II), full gene sequence
IL2RG (interleukin 2 receptor, gamma) (e.g., X-linked severe combined immunodeficiency), full gene sequence
ISPD (isoprenoid synthase domain containing) (e.g., muscle-eye-brain disease, Walker-Warburg syndrome), full gene sequence
KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) (e.g., Noonan syndrome), full gene sequence
LAMP2 (lysosomal-associated membrane protein 2) (e.g., Danon disease), full gene sequence
LDLR (low density lipoprotein receptor) (e.g., familial hypercholesterolemia), duplication/deletion Analysis
MEN1 (multiple endocrine neoplasia l) (e.g., multiple endocrine neoplasia type 1, Wermer syndrome), full gene sequence
Mitochondrial genome deletions (e.g., Kearns-Sayre syndrome [KSS], chronic progressive external ophthalmoplegia [CPEO], Pearson syndrome), deletion analysis, and duplication analysis, if performed
MMAA (methylmalonic aciduria [cobalamine deficiency] type A) (e.g., MMAA-related methylmalonic acidemia), full gene sequence
MMAB (methylmalonic aciduria [cobalamine deficiency] type B) (e.g., MMAA-related methylmalonic acidemia), full gene sequence
MPI (mannose phosphate isomerase) (e.g., congenital disorder of glycosylation 1b), full gene sequence
MPV17 (MpV17 mitochondrial inner membrane protein) (e.g., mitochondrial DNA depletion syndrome), full gene sequence
MPZ (myelin protein zero) (e.g. Charcot-Marie-Tooth), full gene sequence
MTM1 (myotubularin 1) (e.g., X-linked centronuclear myopathy), duplication/deletion analysis
MYL2 (myosin, light chain 2, regulatory, cardiac, slow) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
MYL3 (myosin, light chain 3, alkali, ventricular, skeletal slow) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
MYOT (myotilin) (e.g., limb-girdle muscular dystrophy), full gene sequence
NDUFS7 (NADH dehydrogenase [ubiquinone] Fe-S protein 7, 20kDa [NADH-coenzyme Q reductase]) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFS8 (NADH dehydrogenase [ubiquinone] Fe-S protein 8, 23kDa [NADH-coenzyme Q reductase]) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NDUFV1 (NADH dehydrogenase [ubiquinone] flavoprotein 1, 51kDa) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NEFL (neurofilament, light polypeptide) (e.g. Charcot-Marie-Tooth), full gene sequence
NF2 (neurofimromin 2[merlin]) (e.g., neurofibromatosis, type 2), duplication/deletion analysis
NLGN3 (neuroligin 3) (e.g., autism spectrum disorders), full gene sequence
NLGN4X (neuroligin 4, X-linked) (e.g., autism spectrum disorders), full gene sequence
NPHP1 (nephronophthisis 1 [juvenile]) (e.g., Joubert syndrome), deletion analysis, and duplication analysis, if performed
NPHS2 (nephrosis 2, idiopathic, steroid-resistant [podocin]) (e.g., steroid-resistant nephrotic syndrome), full gene sequence
NSD1 (nuclear receptor binding SET domain protein 1 (e.g., Sotos syndrome), duplication/deletion analysis
OTC (ornithine carbamoyltransferase) (e.g., ornithine transcarbamylase deficiency), full gene sequence
PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa]) (e.g., lissencephaly, Miller-Dieker syndrome), duplication/deletion analysis
PARK2 (Parkinson protein 2, E3 ubiquitin protein ligase [parkin]) (e.g., Parkinson disease), duplication/deletion analysis
PCCA (propionyl CoA carboxylase, alpha polypeptide) (e.g., propionic acidemia, type 1), duplication/deletion analysis
PCDH19 (protocadherin 19) (e.g., epileptic encephalopathy), full gene sequence
PDHA1 (pyruvate dehydrogenase [lipoamide] alpha 1) (e.g., lactic acidosis), duplication/deletion analysis
PDHB (pyruvate dehydrogenase [lipoamide] beta) (e.g., lactic acidosis), full gene sequence
PINK1 (PTEN induced putative kinase 1) (e.g., Parkinson disease), full gene sequence
PLP1 (proteolipid protein 1) (e.g., Pelizaeus-Merzbacher disease, spastic paraplegia), full gene sequence
POU1F1 (POU class 1 homeobox 1) (e.g., combined pituitary hormone deficiency), full gene sequence
PQBP1 (polyglutamine binding protein 1) (e.g., Renpenning syndrome), full gene sequence
PRX (periaxin) (e.g., Charcot-Marie-Tooth disease), full gene sequence
PSEN1 (presenilin 1) (e.g., Alzheimer disease), full gene sequence
RAB7A (RAB7A, member RAS oncogene family) (e.g., Charcot-Marie-Tooth disease), full gene sequence
RAI1 (retinoic acid induced 1) (e.g., Smith-Magenis syndrome), full gene sequence
REEP1 (receptor accessory protein 1) (e.g., spastic paraplegia), full gene sequence
RET (ret proto-oncogene) (e.g. multiple endocrine neoplasia, type 2A and familial medullary thyroid carcinoma), targeted sequence analysis (e.g. exons 10, 11, 13-16)
RPS19 (ribosomal protein S19) (e.g., Diamond-Blackfan anemia), full gene sequence
RRM2B (ribonucleotide reductase M2 B [TP53 inducible]) (e.g., mitochondrial DNA depletion), full gene sequence
SCO1 (SCO cytochrome oxidase deficient homolog 1) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
SDHB (succinate dehydrogenase complex, subunit B, iron sulfur) (e.g. hereditary paraganglioma), full gene sequence
SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) (e.g., hereditary paraganglioma-pheochromocytoma syndrome), full gene sequence
SGCA (sarcoglycan, alpha [50kDa dystrophin-associated glycoprotein]) (e.g., limb-girdle muscular dystrophy), full gene sequence
SGCB (sarcoglycan, beta [43kDa dystrophin-associated glycoprotein]) (e.g., limb-girdle muscular dystrophy), full gene sequence
SGCD (sarcoglycan, delta [35kDa dystrophin-associated glycoprotein]) (e.g., limb-girdle muscular dystrophy), full gene sequence
SGCE (sarcoglycan, epsilon) (e.g., myoclonic dystonia), duplication/deletion analysis
SGCG (sarcoglycan, gamma [35kDa dystrophin-associated glycoprotein]) (e.g., limb-girdle muscular dystrophy), full gene sequence
SHOC2 (soc-2 suppressor of clear homolog) (e.g., Noonan-like syndrome with loose anagen hair), full gene sequence
SHOX (short stature homeobox) (e.g., Langer mesomelic dysplasia), full gene sequence
SIL1 (SIL1 homolog, endoplasmic reticulum chaperone [S. cerevisiae]) (e.g., ataxia), full gene sequence
SLC16A2 (solute carrier family 16, member 2 [thyroid hormone transporter]) (e.g., specific thyroid hormone cell transporter deficiency, Allan-Herndon-Dudley syndrome), full gene sequence
SLC22A5 (solute carrier family 22 [organic cation/carnitine transporter], member 5) (e.g., systemic primary carnitine deficiency), full gene sequence
SLC25A20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (e.g., carnitine- acylcarnitine translocase deficiency), full gene sequence
SLC2A1 (solute carrier family 2 [facilitated glucose transporter], member 1) (e.g., glucose transporter type 1 [GLUT 1] deficiency syndrome), full gene sequence
SMAD4 (SMAD family member 4) (e.g., hemorrhagic telangiectasia syndrome, juvenile polyposis), duplication/deletion analysis
SMN1 (survival of motor neuron 1, telomeric) (e.g., spinal muscular atrophy), full gene sequence
SPAST (spastin) (e.g., spastic paraplegia), duplication/deletion analysis
SPG7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (e.g., spastic paraplegia), duplication/deletion analysis
SPRED1 (sprout-related, EVH1 domain containing 1) (e.g., Legius syndrome), full gene sequence
STAT3 (signal transducer and activator of transcription 3 [acute-phase response factor]) (e.g., autosomal dominant hyper-IgE syndrome), targeted sequence analysis (e.g., exons 12, 13, 14, 16, 17, 20, 21)
STK11 (serine/threonine kinase 11) (e.g., Peutz-Jeghers syndrome), full gene sequence
SURF1 (surfeit 1) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
TARDBP (TAR DNA binding protein) (e.g., amyotrophic lateral sclerosis), full gene sequence
TBX5 (T-box 5) (e.g., Holt-Oram syndrome), full gene sequence
TCF4 (transcription factor 4) (e.g., Pitt-Hopkins syndrome), duplication/deletion analysis
TGFBR1 (transforming growth factor, beta receptor 1) (e.g. Marfan syndrome), full gene sequence
TGFBR2 (transforming growth factor, beta receptor 2) (e.g. Marfan syndrome), full gene sequence
THRB (thyroid hormone receptor, beta) (e.g. thyroid hormone resistance, thyroid hormone beta receptor deficiency), full gene sequence or targeted sequence analysis of >5 exons
TK2 (thymidine kinase 2, mitochondrial) (e.g., mitochondrial DNA depletion syndrome), full gene sequence
TNNl3 (troponin l, type 3[cardiac]) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
TNNC1 (troponin C type 1 [slow]) (e.g., hypertrophic cardiomyopathy or dilated cardiomyopathy), full gene sequence
TP53 (tumor protein 53) (e.g. Li-Fraumeni syndrome, tumor samples), full gene sequence or targeted sequence analysis of >5 exons
TPM1 (tropomyosin 1 [alpha]) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
TSC1 (tuberous sclerosis 1) (e.g., tuberous sclerosis), duplication/deletion analysis
TYMP (thymidine phosphorylase) (e.g., mitochondrial DNA depletion syndrome), full gene sequence
VWF (von Willebrand factor) (e.g. von Willebrand disease type 2N), targeted sequence analysis (e.g. exons 18-20, 23-25)
WT1 (Wilms tumor 1) (e.g., Denys-Drash syndrome, familial Wilms tumor), full gene sequence
ZEB2 (zinc finger E-box binding homeobox 2) (e.g., Mowat-Wilson syndrome), full gene sequence

81406

Molecular pathology procedure, Level 7 (e.g. analysis of 11-25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia)
ACADVL (acyl-CoA dehydrogenase, very long chain) (e.g., very long chain acyl-coenzyme A dehydrogenase deficiency), full gene sequence
ACTN4 (actinin, alpha 4) (e.g., focal segmental glomerulosclerosis), full gene sequence
AFG3L2 (AFG3 ATPase family gene 3-like 2 [S. cerevisiae]) (e.g., spinocerebellar ataxia), full gene sequence
AIRE (autoimmune regulator) (e.g., autoimmune polyendocrinopathy syndrome type 1), full gene sequence
ALDH7A1 (aldehyde dehydrogenase 7 family, member A1) (e.g., pyridoxine-dependent epilepsy), full gene sequence
ANO5 (anoctamin 5) (e.g., limb-girdle muscular dystrophy), full gene sequence
APP (amyloid beta [A4[ precursor protein) (e.g., Alzheimer disease), full gene sequence
APT7B (ATPase, Cu++ transporting, beta polypeptide) (e.g., Wilson disease), full gene sequence
ASS1 (argininosuccinate synthase 1) (e.g., citrullinemia type I), full gene sequence
ATL1 (atlastin GTPase 1) (e.g., spastic paraplegia), full gene sequence
ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polypeptide) (e.g., familial hemiplegic migraine), full gene sequence
ATP7B (ATPase, Cu++ transporting, beta polypeptide) (e.g., Wilson disease), full gene sequence
BBS1 (Bardet-Biedl syndrome 1) (e.g., Bardet-Biedl syndrome), full gene sequence
BBS2 (Bardet-Biedl syndrome 2) (e.g., Bardet-Biedl syndrome), full gene sequence
BCKDHB (branched chain keto acid dehydrogenase E1, beta polypeptide) (e.g., maple syrup urine disease, type 1B), full gene sequence
BEST1 (bestrophin 1) (e.g., vitelliform macular dystrophy), full gene sequence
BMPR2 (bone morphogenetic protein receptor, type II [serine/threonine kinase]) (e.g., heritable pulmonary arterial hypertension), full gene sequence
BRAF (v-raf murine sarcoma viral oncogene homolog B1) (e.g., Noonan syndrome), full gene sequence
BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 [seipin]) (e.g., Berardinelli-Seip congenital lipodystrophy), full gene sequence
BTK (Bruton agammaglobulinemia tyrosine kinase) (e.g., X-linked agammaglobulinemia), full gene sequence
CACNB2 (calcium channel, voltage-dependent, beta 2 subunit) (e.g., Brugada syndrome), full gene sequence
CAPN3 (Calpain 3) (e.g. limb-girdle muscular dystrophy [LGMD] type 2A, calpainopathy), full gene sequence
CBS (cystathionine-beta-synthase) (e.g., homocystinuria, cystathionine beta-synthase deficiency), full gene sequence
CDH1 (cadherin 1, type 1, E-cadherin [epithelial]) (e.g., hereditary diffuse gastric cancer), full gene sequence
CDKL5 (cyclin-dependent kinase-like 5) (e.g., early infantile epileptic encephalopathy), full gene sequence
CLCN1 (chloride channel 1, skeletal muscle) (e.g., myotonia congenita), full gene sequence
CLCNKB (chloride channel, voltage-sensitive Kb) (e.g., Bartter syndrome 3 and 4b), full gene sequence
CNTNAP2 (contactin associated protein-like 2) (e.g., Pitt-Hopkins-like syndrome 1), full gene sequence
COL6A2 (collagen, type VI, alpha 2) (e.g., collagen type VI-related disorders), duplication/deletion analysis
CPT1A (carnitine palmitoyltransferase 1A [liver]) (e.g., carnitine palmitoyltransferase 1A [CPT1A] deficiency), full gene sequence
CRB1 (crumbs homolog 1 [Drosophila]) (e.g., Leber congenital amaurosis), full gene sequence
CREBBP (CREB binding protein) (e.g., Rubinstein-Taybi syndrome), duplication/deletion analysis
Cytogenomic microarray analysis, neoplasia (e.g. interrogation of copy number, and loss-of-heterozygosity via single nucleotide polymorphism [SNP]-based comparative genomic hybridization [CGH] microarray analysis)
DBT (dihydrolipoamide branched chain transacylase E2) (e.g., maple syrup urine disease, type 2), full gene sequence
DLAT (dihydrolipoamide S-acetyltransferase) (e.g., pyruvate dehydrogenase E2 deficiency), full gene sequence
DLD (dihydrolipoamid dehydrogenase) (e.g., maple syrup urine disease, type lll), full gene sequence
DSC2 (desmocollin) (e.g., arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence
DSG2 (desmoglein 2) (e.g., arrhythmogenic right ventricular dysplasia/cardiomyopathy 10), full gene sequence
DSP (desmoplakin) (e.g., arrhythmogenic right ventricular dysplasia/cardiomyopathy 8), full gene sequence
EFHC1 (EF-hand domain [C-terminal] containing 1) (e.g., juvenile myoclonic epilepsy), full gene sequence
EIF2B3 (eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa) (e.g., leukoencephalopathy with vanishing white matter), full gene sequence
EIF2B4 (eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa) (e.g., leukoencephalopathy with vanishing white matter), full gene sequence
EIF2B5 (eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa) (e.g., childhood ataxia with central nervous system hypomyelination/vanishing white matter), full gene sequence
ENG (endoglin) (e.g., hereditary hemorrhagic telangiectasia, type 1), full gene sequence
EYA1 (eyes absent homolog 1 [Drosophila]) (e.g., branchio-oto-renal [BOR] sprectur disorders), full gene sequence
F8 (coagulation factor Vlll) (e.g., hemophilia A), duplication/deletion analysis
FAH (fumarylacetoacetate hydrolase [fumarylacetoacetase]) (e.g., tyrosinemia, type 1), full gene sequence
FASTKD2 (FAST kinase domains 2) (e.g., mitochondrial respiratory chain complex IV deficiency), full gene sequence
FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing [S. cerevisiae]) (e.g., Charcot-Marie-Tooth disease), full gene sequence
FTSJ1 (FtsJ RNA methyltransferase homolog 1 [E. coli]) (e.g., X-linked mental retardation 9), full gene sequence
FUS (fused in sarcoma) (e.g., amyotrophic lateral sclerosis), full gene sequence
GAA (glucoside, alpha, acit) (e.g., glycogen storage disease type ll [Pompe disease], full gene sequence
GALC (galactosylceramidase) (e.g., Krabbe disease), full gene sequence
GALT (galactose-1-phosphate uridylyltransferase) (e.g. galactosemia), full gene sequence
GARS (glycyl-tRNA synthetase) (e.g., Charcot-Marie-Tooth disease), full gene sequence
GCDH (glutaryl-CoA dehydrogenase) (e.g., glutaricacidemia type 1), full gene sequence
GCK (glucokinase [hexokinase 4]) (e.g., maturity-onset diabetes of the young [MODY]), full gene sequence
GLUD1 (glutamate dehydrogenase 1) (e.g., familial hyperinsulinism), full gene sequence
GNE (glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) (e.g., inclusion body myopathy 2 [IBM2], Nonaka myopathy), full gene sequence
GRN (granulin) (e.g., frontotemporal dementia), full gene sequence
HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifuntional protein] alpha subunit) (e.g., long chain acyl-coenzyme A dehydrogenase deficiency), full gene sequence
HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [trifunctional protein], beta subunit) (e.g., trifunctional protein deficiency), full gene sequence
HEXA (hexosaminidase A, alpha polypeptide) (e.g. Tay-Sachs disease), full gene sequence
HLCS (HLCS holocarboxylase synthetase) (e.g., holocarboxylase synthetase deficiency), full gene sequence
HNF4A (hepatocyte nuclear factor 4, alpha) (e.g., maturity-onset diabetes of the young [MODY]), full gene sequence
IDUA (iduronidase, alpha-L-) (e.g., mucopolysaccharidosis type I), full gene sequence
INF2 (inverted formin, FH2 and WH2 domain containing) (e.g., focal segmental glomerulosclerosis), full gene sequence
IVD (isovaleryl-CoA dehydrogenase) (e.g., isovaleric academia), full gene sequence
JAG1 (jagged 1) (e.g., Alagille syndrome), duplication/deletion analysis
JUP (junction plakoglobin) (e.g., arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence
KAL1 (Kallmann syndrome 1 sequence) (e.g., Kallmann syndrome), full gene sequence
KCNH2 (potassium voltage-gated channel, subfamily H [eag-related], member 2) (e.g., short QT syndrome, long QT syndrome), full gene sequence
KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) (e.g., short QT syndrome, long QT syndrome), full gene sequence
KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2) (e.g., epileptic encephalopathy), full gene sequence
LDB3 (LlM domain binding 3) (e.g., familial dilated cardiomyopathy, myofibrillar myopathy), full gene sequence
LDLR (low density lipoprotein receptor) (e.g., familial hypercholesterolemia), full gene sequence
LEPR (leptin receptor) (e.g., obesity with hypogonadism), full gene sequence
LHCGR (luteinizing hormone/choriogonadotropin receptor) (e.g., precocious male puberty), full gene sequence
LMNA (lamin A/C) (e.g. Emery-Dreifuss muscular dystrophy [EDMD1, 2 and 3] limb-girdle muscular dystrophy [LGMD] type 1B, dilated cardiomyopathy [CMD1A], familial partial lipodystrophy [FPLD2]), full gene sequence
LRP5 (low density lipoprotein receptor-related protein 5) (e.g., osteopetrosis), full gene sequence
MAP2K1 (mitogen-activated protein kinase 1) (e.g., cardiofaciocutaneous syndrome), full gene sequence
MAP2K2 (mitogen-activated protein kinase 2) (e.g., cardiofaciocutaneous syndrome), full gene sequence
MAPT (microtubule-associated protein tau) (e.g., frontotemporal dementia), full gene sequence
MCCC1 (methylcrotonoyl-CoA carboxylase 1 [alpha]) (e.g., 3-methylcrotonyl-CoA carboxylase deficiency), full gene sequence
MCCC2 (methylcrotonoyl-CoA carboxylase 2 [beta]) (e.g., 3-methylcrotonyl carboxylase deficiency), full gene sequence
MFN2 (mitofusin 2) (e.g., Charcot-Marie-Tooth disease), full gene sequence
MTM1 (myotubularin 1) (e.g., X-linked centronuclear myopathy), full gene sequence
MUT (methylmalonyl CoA mutase) (e.g., methylmalonic acidemia), full gene sequence
MUTYH (mutY homolog [E. coli]) (e.g., MYH-associated polyposis), full gene sequence
NDUFS1 (NADH dehydrogenase [ubiquinone] Fe-S protein 1, 75kDa [NADH-coenzyme Q reductase]) (e.g., Leigh syndrome, mitochondrial complex I deficiency), full gene sequence
NF2 (neurofibromin 2 [merlin] (e.g., neurofibromatosis, type 2), full gene sequence
NOTCH3 (notch 3) (e.g., cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [CADASIL]), targeted sequence analysis (e.g., exons 1-23)
NPC1 (Niemann-Pick disease, type C1) (e.g., Niemann-Pick disease), full gene sequence
NPHP1 (nephronophthisis 1 [juvenile]) (e.g., Joubert syndrome), full gene sequence
NSD1 (nuclear receptor binding SET domain protein 1) (e.g., Sotos syndrome), full gene sequence
OPA1 (optic atrophy 1) (e.g., optic atrophy), duplication/deletion analysis
OPTN (optineurin) (e.g., amyotrophic lateral sclerosis), full gene sequence
PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kDa]) (eg,lissencephaly, Miller-Dieker syndrome), full gene sequence
PAH (phenylalanine hydroxylase) (e.g. phenylketonuria), full gene sequence
PALB2 (partner and localizer of BRCA2) (e.g., breast and pancreatic cancer), full gene sequence
PARK2 (Parkinson protein 2, E3 ubiquitin protein ligase [parkin]) (e.g., Parkinson disease), full gene sequence
PAX2 (paired box 2) (e.g., renal coloboma syndrome), full gene sequence
PC (pyruvate carboxylase) (e.g., pyruvate carboxylase deficiency), full gene sequence
PCCA (propionyl CoA carboxylase, alpha polypeptide) (e.g., propionic acidemia, type 1), full gene sequence
PCCB (propionyl CoA carboxylase, beta polypeptide) (e.g., propionic academia), full gene sequence
PCDH15 (protocadherin-related 15) (e.g., Usher syndrome type 1F), duplication/deletion analysis
PCSK9 (proprotein convertase subtilisin/kexin type 9) (eg, familial hypercholesterolemia), full gene sequence
PDHA1 (pyruvate dehydrogenase [lipoamide] alpha 1) (e.g., lactic acidosis), full gene sequence
PDHX (pyruvate dehydrogenase complex, component X) (e.g., lactic acidosis), full gene sequence
PHEX (phosphate regulating endopeptidase homolog, X-linked) (e.g., hypophosphatemic rickets), full gene sequence
PKD2 (polycystic kidney disease 2 [autosomal dominant]) (e.g., polycystic kidney disease), full gene sequence
PKP2 (plakophilin 2) (e.g., arrhythmogenic right ventricular dysplasia/cardiomyopathy 9), full gene sequence
PNKD (e.g., paroxysmal nonkinesigenic dyskinesia) (e.g., paroxysmal nonkinesigenic dyskinesia), full gene sequence
POLG (polymerase [DNA directed], gamma) (e.g. Alpers-Huttenlocher syndrome, autosomal dominant progressive external ophthalmoplegia), full gene sequence
POMGNT1 (protein O-linked mannose beta1,2-N acetylglucosaminyltransferase) (e.g. muscle-eye-brain disease, Walker-Warburg syndrome), full gene sequence
POMT1 (protein-O-mannosyltransferase 1) (e.g. limb-girdle muscular dystrophy [LGMD] type 2K, Walker-Warburg syndrome), full gene sequence
POMT2 (protein-O-mannosyltransferase 2) (e.g. limb-girdle muscular dystrophy [LGMD] type 2N, Walker-Warburg syndrome), full gene sequence
PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit) (e.g., familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome, lethal congenital glycogen storage disease of heart), full gene sequence
PRKCG (protein kinase C, gamma) (e.g., spinocerebellar ataxia), full gene sequence (sodium channel,voltage-gated, type IV, alpha subunit) (e.g., hyperkalemic periodic paralysis), full gene sequence
PSEN2 (presenilin 2 [Alzheimer disease 4] (e.g., Alzheimer disease), full gene sequence
PTPN11 (protein tyrosine phosphatase, non-receptor type 11) (e.g., Noon syndrome, LEOPARD syndrome), full gene sequence
PYGM (phosphorylase, glycogen, muscle) (e.g., glycogen storage disease type V, McArdle disease ), full gene sequence
RAF1 (v-raf-1 murine leukemia viral oncogene homolog 1) (e.g., LEOPARD syndrome), full gene sequence
RET (ret proto-oncogene) (e.g., Hirschsprung disease), full gene sequence
RPE65 (retinal pigment epithelium-specific protein 65kDa) (e.g., retinitis pigmentosa, Leber congenital amaurosis), full gene sequence
RYR1 (ryanodine receptor 1, skeletal) (e.g. malignant hyperthermia), targeted sequence analysis of exons with functionally confirmed mutations
SCN4A (sodium channel, voltage-gated, type IV, alpha subunit) (e.g., hyperkalemic periodic paralysis), full gene sequence
SCNN1A (sodium channel, nonvoltage-gated 1 alpha) (e.g., pseudohypoaldosteronism), full gene sequence
SCNN1B (sodium channel, nonvoltage-gated 1, beta) (e.g., Liddle syndrome, pseudohypoaldosteronism), full gene sequence
SCNN1G (sodium channel, nonvoltage-gated 1, gamma) (e.g., Liddle syndrome, pseudohypoaldosteronism), full gene sequence
SDHA (succinate dehydrogenase complex, subunit A, flavoprotein [Fp]) (e.g., Leigh syndrome, mitochondrial complex II deficiency), full gene sequence
SETX (senataxin) (e.g., ataxia), full gene sequence
SGCE (sarcoglycan, epsilon) (e.g., myoclonic dystonia), full gene sequence
SH3TC2 (SH3 domain and tetratricopeptide repeats 2) (e.g., Charcot-Marie-Tooth disease), full gene sequence
SLC9A6 (solute carrier family 9 [sodium/hydrogen exchanger], member 6) (e.g., Christianson syndrome), full gene sequence
SLC26A4 (solute carrier family 26, member 4) (e.g., Pendred syndrome), full gene sequence
SLC37A4 (solute carrier family 37 [glucose-6-phosphate transporter], member 4) (e.g., glycogen storage disease type Ib), full gene sequence
SMAD4 (SMAD family member 4) (e.g., hemorrhagic telangiectasia syndrome, juvenile polyposis), full gene sequence
SPAST (spastin) (e.g., spastic paraplegia), full gene sequence
SPG7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (e.g., spastic paraplegia), full gene sequence
SOS1 (son of sevenless homolog 1) (e.g., Noonan syndrome, gingival fibromatosis), full gene sequence
STXBP1 (syntaxin binding protein 1) (e.g., epileptic encephalopathy), full gene sequence
TAZ (tafazzin) (e.g., methylglutaconic aciduria type 2, Barth syndrome), full gene sequence
TCF4 (transcription factor 4) (e.g., Pitt-Hopkins syndrome), full gene sequence
TH (tyrosine hydroxylase) (e.g., Segawa syndrome), full gene Sequence
TMEM43 (transmembrane protein 43) (e.g., arrhythmogenic right ventricular cardiomyopathy), full gene sequence
TNNT2 (troponin T, type 2 [cardiac]) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
TRPC6 (transient receptor potential cation channel, subfamily C, member 6) (e.g., focal segmental glomerulosclerosis), full gene sequence
TSC1 (tuberous sclerosis 1) (e.g., tuberous sclerosis), full gene sequence
TSC2 (tuberous sclerosis 2) (e.g., tuberous sclerosis), duplication/deletion analysis
UBE3A (ubiquitin protein ligase E3A) (e.g., Angelman syndrome), full gene sequence
UMOD (uromodulin) (e.g., glomerulocystic kidney disease with hyperuricemia and isosthenuria), full gene sequence
VWF (von Willebrand factor) (von Willebrand disease type 2A), extended targeted sequence analysis (e.g. exons 11-16, 24-26, 51, 52)
WAS (Wiskott-Aldrich syndrome [eczema-thrombocytopenia]) (e.g., Wiskott-Aldrich syndrome), full gene sequence

81407

Molecular pathology procedure, Level 8 (e.g. analysis of 26-50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of > 50 exons, sequence analysis of multiple genes on one platform)
ABCC8 (ATP-binding cassette, sub-family C [CFTR/MRP], member 8) (e.g., familial hyperinsulinism), full gene sequence
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) (e.g., glycogen storage disease type III), full gene sequence
AHI1 (Abelson helper integration site 1) (e.g., Joubert syndrome), full gene sequence
ASPM (asp [abnormal spindle] homolog, microcephaly associated [Drosophila]) (e.g., primary microcephaly), full gene sequence
CACNA1A (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) (e.g., familial hemiplegic migraine), full gene sequence
CHD7 (chromodomain helices DNA binding protein 7 (e.g., CHARGE syndrome), full gene sequence
COL4A4 (collagen, type IV, alpha 4) (e.g., Alport syndrome), full gene sequence
COL4A5 (collagen, type IV, alpha 5) (e.g., Alport syndrome), duplication/deletion analysis
COL6A1 (collagen, type VI, alpha 1) (e.g., collagen type VI-related disorders), full gene sequence
COL6A2 (collagen, type VI, alpha 2) (e.g., collagen type VI-related disorders), full gene sequence
COL6A3 (collagen, type VI, alpha 3) (e.g., collagen type VI-related disorders), full gene sequence
CREBBP (CREB binding protein) (e.g., Rubinstein-Taybi syndrome), full gene sequence
F8 (coagulation factor Vlll) (e.g., helophilia A), full gene sequence
JAG1 (jagged 1) (e.g., Alagille syndrome), full gene sequence
KDM5C (lysine [K]-specific demethylase 5C) (e.g., X-linked mental retardation), full gene sequence
KIAA0196 (KIAA0196) (e.g., spastic paraplegia), full gene sequence
LAMB2 (laminin, beta 2 [laminin S]) (e.g., Pierson syndrome), full gene sequence
MYBPC3 (myosin binding protein C, cardiac) (e.g., familial hypertrophic cardiomyopathy), full gene sequence
MYH6 (myosin, heavy chain 6, cardiac muscle, alpha) (e.g., familial dilated cardiomyopathy), full gene sequence
MYH7 (myosin, heavy chain 7, cardiac muscle, beta) (e.g., familial hypertrophic cardiomyopathy, Liang distal myopathy), full gene sequence
MYO7A (myosin VllA) (e.g., Usher syndrome, type 1), full gene sequence
NOTCH1 (notch1) (e.g., aortic valve disease), full gene sequence
NPHS1 (nephrosis 1, congenital, Finnish type [nephrin]) (e.g., congenital Finnish nephrosis), full gene sequence
OPA1 (optic atrophy 1) (e.g., optic atrophy), full gene sequence
PCDH15 (protocadherin-related 15) (e.g., Usher syndrome, type 1), full gene sequence
PKD1 (polycystic kidney disease 1 [autosomal dominant]) (e.g., polycystic kidney disease), full gene sequence
PLCE1 (phospholipase C, epsilon 1) (e.g., nephrotic syndrome type 3), full gene sequence
SCN1A (sodium channel, voltage-gated, type 1, alpha subunit) (e.g. generalized epilepsy with febrile seizures), full gene sequence
SCN5A (sodium channel, voltage-gated, type V, alpha subunit) (e.g., familial dilated cardiomyopathy), full gene sequence
SLC12A1 (solute carrier family 12 [sodium/potassium/chloride transporters], member 1) (e.g., Bartter syndrome), full gene sequence
SLC12A3 (solute carrier family 12 [sodium/chloride transporters], member 3) (e.g., Gitelman syndrome), full gene sequence
SPG11 (spastic paraplegia 11 [autosomal recessive]) (e.g., spastic paraplegia), full gene sequence
SPTBN2 (spectrin, beta, non-erythrocytic 2) (e.g., spinocerebellar ataxia), full gene sequence
TMEM67 (transmembrane protein 67) (e.g., Joubert syndrome), full gene sequence
TSC2 (tuberous sclerosis 2) (e.g., tuberous sclerosis), full gene sequence
USH1C (Usher syndrome 1C [autosomal recessive, severe]) (e.g., Usher syndrome, type 1), full gene sequence
VPS13B (vacuolar protein sorting 13 homolog B [yeast]) (e.g., Cohen syndrome), duplication/deletion analysis
WDR62 (WD repeat domain 62) (e.g., primary autosomal recessive microcephaly), full gene sequence

81408

Molecular pathology procedure, Level 9 (e.g. analysis of > 50 exons in a single gene by DNA sequence analysis)
ABCA4 (ATP-binding cassette, sub-family A [ABC1], member 4) (e.g., Stargardt disease, age-related macular degeneration), full gene sequence
ATM (ataxia telangiectasia mutate) (e.g., ataxia telangiectasia), full gene sequence
CDH23 (cadherin-related 23) (e.g., Usher syndrome, type 1), full gene sequence
CEP290 (centrosomal protein 290kDa) (e.g., Joubert syndrome), full gene sequence
COL1A1 (collagen, type 1, alpha 1) (e.g., osteogenesis imperfect, type 1) full gene sequence
COL1A2 (collagen, type 1, alpha 2) (e.g., osteogenesis imperfect, type 1) full gene sequence
COL4A1 (collagen, type IV, alpha 1) (e.g., brain small-vessel disease with hemorrhage), full gene sequence
COL4A3 (collagen, type IV, alpha 3 [Goodpasture antigen]) (e.g., Alport syndrome), full gene sequence
COL4A5 (collagen, type IV, alpha 5) (e.g., Alport syndrome), full gene sequence
DMD (dystrophin) (e.g., Duchenne/Becker muscular dystrophy), full gene sequence
DYSF (dysferlin, limb girdle muscular dystrophy 2B [autosomal recessive]) (e.g., limb-girdle muscular dystrophy), full gene sequence
FBN1 (fibrillin 1) (e.g. Marfan syndrome), full gene sequence
ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) (e.g., spinocerebellar ataxia), full gene sequence
LAMA2 (laminin, alpha 2) (e.g., congenital muscular dystrophy), full gene sequence
LRRK2 (leucine-rich repeat kinase 2) (e.g., Parkinson disease), full gene sequence
MYH11 (myosin, heavy chain 11, smooth muscle) (e.g., thoracic aortic aneurysms and aortic dissections), full gene sequence
NEB (nebulin) (e.g., nemaline myopathy 2), full gene sequence
NF1 (neurofibromin 1) (e.g. neurofibromatosis, type 1), full gene sequence
RYR1 (ryanodine receptor 1, skeletal) (e.g. malignant hyperthermia), full gene sequence
RYR2 (ryanodine receptor 2 [cardiac]) (e.g., catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia), full gene sequence or targeted sequence analysis of > 50 exons
USH2A (Usher syndrome 2A [autosomal recessive, mild]) (e.g., Usher syndrome, type 2), full gene sequence
VPS13B (vacuolar protein sorting 13 homolog B [yeast]) (e.g., Cohen syndrome), full gene sequence
VWF (von Willebrand factor) (e.g. von Willebrand disease types 1 and 3), full gene sequence

81410

Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK (Investigational)

81411

Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis, panel must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1 (Investigational)

81412

Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1 (investigational)

81415

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis (Investigational)

81416

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure) (Investigational)

81417

Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) (Investigational)

81425

Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis (Investigational)

81426

Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (List separately in addition to code for primary procedure) (Investigational)

81427

Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome) (Investigational)

81430

Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1

81431

Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes (Investigational)

81432

Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel, must include sequencing of at least 14 genes, including ATM, BRCA1, BRCA2, BRIP1, CDH1, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, STK11, and TP53 (investigational)

81433

Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); duplication/deletion analysis panel, must include analyses for BRCA1, BRCA2, MLH1, MSH2, and STK11 (investigational)

81434

Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A (investigational)

81435

Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include sequencing of at least 10 genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11 (Investigational)

81436

Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4 (Investigational)

81437

Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); genomic sequence analysis panel, must include sequencing of at least 6 genes, including MAX, SDHB, SDHC, SDHD, TMEM127, and VHL (investigational)

81438

Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL (investigational)

81440

Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP (Investigational)

81442

Noonan spectrum disorders (eg, Noonan syndrome, cardio-faci--cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1 (investigational)

81445

81445 Targeted genomic sequence analysis panel, solid organ neoplasm, DNA analysis, and RNA analysis when performed, 5-50 genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, NRAS, MET, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed (Investigational)

81450

Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, DNA analysis, and RNA analysis when performed, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KRAS, KIT, MLL, NRAS, NPM1, NOTCH1), interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed (Investigational)

81455

Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm, DNA analysis, and RNA analysis when performed, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NPM1, NRAS, MET, NOTCH1, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed (Investigational)

81460

Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes [MELAS], myoclonic epilepsy with ragged‐red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection (Investigational)

81465

Whole mitochondrial genome large deletion analysis panel (eg, Kearns‐Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed (Investigational)

81470

X‐linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM,MECP2,MED12,MID1,OCRL, RPS6KA3,and SLC16A2 (Investigational)

81471

X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM,MECP2,MED12,MID1,OCRL, RPS6KA3,and SLC16A2 (Investigational)

81493

Coronary artery disease, mRNA, gene expression profiling by real-time RT-PCR of 23 genes, utilizing whole peripheral blood, algorithm reported as a risk score (investigational)

83080

Hemosiderin; b-Hexosaminidase, each assay

88271

Molecular cytogenetics; DNA probe, each (e.g., FISH-fluorescence in situ hybridization)

88272

Chromosomal in situ hybridization, analyze 3 – 5 cells (e.g., for derivatives and markers)

88273

Chromosomal in situ hybridization, analyze 10 – 30 cells (e.g., for microdeletions)

88274

Interphase in situ hybridization, analyze 25 – 99 cells

88275

Interphase in situ hybridization, analyze 100 – 300 cells

88291

Cytogenetics and molecular cytogenetics, interpretation and report

0004M

Scoliosis, DNA analysis of 53 single nucleotide polymorphisms (SNPs), using saliva, prognostic algorithm reported as a risk score (investigational)

0010M

Oncology (High-Grade Prostate Cancer), biochemical assay of four proteins (Total PSA, Free PSA, Intact PSA and human kallikrein 2 [hK2]) plus patient age, digital rectal examination status, and no history of positive prostate biopsy, utilizing plasma, prognostic algorithm reported as a probability score (investigational)

HCPCS Coding:

G9143

Warfarin responsiveness testing by genetic technique using any method, any number of specimen(s) (investigational)

S0265

Genetic counseling, under physician supervision, each 15 minutes

S3840

DNA analysis for germline mutations of the RET Proto-Oncogene for susceptibility to multiple endocrine neoplasia Type 2

S3841

Genetic testing for retinoblastoma

S3842

Genetic testing for Von Hippel-Lindau Disease

S3844

DNA analysis of the Connexin 26 Gene (GJB2) for susceptibility to congenital, profound, deafness

S3845

Genetic testing for Alpha-Thalassemia

S3846

Genetic testing for Hemoglobin E Beta-Thalassemia

S3849

Genetic testing for Niemann-Pick Disease

S3850

Genetic testing for sickle cell anemia

S3852

DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer’s disease (investigational)

S3853

Genetic testing for myotonic muscular dystrophy

S3861

Genetic testing, sodium channel, voltage-gated, type V, alpha subunit (SCN5A) and variants for suspected Brugada Syndrome

S3865

Comprehensive gene sequence analysis for hypertrophic cardiomyopathy

S3866

Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family

S3870

Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability

Genetic Counseling: Genetic counseling is covered in accordance to the member’s contract benefits for medical counseling. Pre and post genetic counseling meets the definition of medical necessity as an adjunct to the genetic test(s).

REIMBURSEMENT INFORMATION:

BCBSF has adopted the U.S. Preventive Services Task Force (USPSTF) Recommendations. In order to be covered, Services shall be provided in accordance with prevailing medical standards consistent with the USPSTF Recommendations.

Code 83080 is limited to four (4) tests within a 12-month period.

Code 88291 is limited to twenty-five (25) of each test within a 12-month period.

Code 88271 is limited to forty-one (41) tests within a 12-month period.

Codes 88272, 88273, 88274, S3841, S3842, S3844, S3845, S3846, S3849, S3850, S3853 and S3861 are limited to one (1) of each test within a 12-month period.

Services in excess of these limitations are subject to medical review. he following information is required documentation to support medical necessity: reason for test(s), previous lab results, how the results of the test will be utilized, how the results of the test will contribute to improved health outcomes, or alters patient’s treatment and or management.

LOINC Codes:

Documentation Table

LOINC Codes

LOINC
Time Frame
Modifier Code

LOINC Time Frame Modifier Codes Narrative

Physician history and physical

28626-0

18805-2

Include all data of the selected type that represents observations made six months or fewer before starting date of service for the claim

Attending physician visit note

18733-6

18805-2

Include all data of the selected type that represents observations made six months or fewer before starting date of service for the claim.

Attending physician progress note

18741-9

18805-2

Include all data of the selected type that represents observations made six months or fewer before starting date of service for the claim.

Plan of treatment

18776-5

18805-2

Include all data of the selected type that represents observations made six months or fewer before starting date of service for the claim.

Laboratory studies

26436-6

18805-2

Include all data of the selected type that represents observations made six months or fewer before starting date of service for the claim

PROGRAM EXCEPTIONS:

Federal Employee Program (FEP): Follow FEP guidelines.

State Account Organization (SAO): Follow SAO guidelines.

Medicare Advantage products:

The following National Coverage Determination (NCD) was reviewed on the last guideline revised date: Pharmacogenomic Testing for Warfarin Response (90.1) located at cms.gov.

The following were reviewed on the last guideline revised date and are located at palmettogba.com:

• MolDX LCDs (M00021, V8)

• Corus CAD Test Coding and Billing Guidelines (M0009)

• KIF6 Genotype Billing and Coding Guidelines

• LPA-Aspirin Genotype Billing and Coding Guidelines

• SLCO1B1 Genotype Billing and Coding Guidelines.

DEFINITIONS:

Gene: piece of DNA; the genetic code.

Genetic screening: refers to looking at the genes of normal people to see if they are carriers of the abnormal gene. If they were to have a child with a person who was also a carrier, then genetic counseling could help them understand the risk of having a child affected with a genetic disease. Screening means that there are currently no signs or symptoms of a genetic disease, but the test could tell if there is risk or potential, for that person, or their offspring.

Mutation: abnormality, change, or defect in a gene (piece of DNA, genetic code).

Positive: meaning that a defect (like a RET mutation) was found in the patient.

Pre-natal: before birth.

Testing: means that a genetic disease is suspected in that patient, because they have signs or symptoms of disease. For example, if an infant shows certain signs of digestive and lung problems, cystic fibrosis may be suspected, and a genetic test done. Screening would be to check to see if other family members, who do not appear to have any signs of disease, might carry the gene for cystic fibrosis.

RELATED GUIDELINES:

Assays of Genetic Expression in Tumor Tissue as a Technique to Determine Prognosis in Patients with Breast Cancer, 05-86000-26
Cytogenetic Studies (Chromosomal Studies), 05-82000-18

Genetic Testing for Hereditary Breast or Ovarian Cancer, 05-82000-30

Genetic Testing for Inherited Susceptibility to Colon Cancer Including Microsatellite Instability, 05-82000-31

OTHER:

None applicable.

REFERENCES:

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  2. American College of Medical Genetics, Position Statement on Carrier Testing for Canavan Disease, accessed at acmg.net on 09/01/09.
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  10. Blue Cross Blue Shield Association Medical Reference Policy Manual, 2.04.43 Genetic Testing for Cardiac Ion Channelopathies, 10/15.
  11. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.02.13 Genetic Testing for Alzheimer’s Disease, 10/15.
  12. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.02.28 Genetic Testing for Predisposition to Inherited Hypertrophic Cardiomyopathy, 12/14.
  13. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.30 Serologic Diagnosis of Celiac Disease, archived 01/13.
  14. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.33 Genetic and Protein Biomarkers for the Diagnosis and Cancer Risk Assessment of Prostate, 04/15.
  15. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.57 Non-BRCA Breast Cancer Risk Assessment (e.g., OncoVue), archived 08/14.
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  17. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.63 Use of Common Genetic Variants (Single Nucleotide Polymorphisms) to Predict Risk of Nonfamilial Breast Cancer, 04/15.
  18. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.67 KIF6 Genotyping for Predicting Cardiovascular Risk and/or Effectiveness of Statin Therapy, 02/14.
  19. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.70 Genetic Testing for Lipoprotein (a) Variant(s) as a Decision Aid for Aspirin Treatment, 05/14.
  20. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.71 Genotyping for 9p21 Single Nucleotide Polymorphisms to Predict Risk of Cardiovascular Disease or Aneurysm, 04/14.
  21. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.72 Gene Expression Testing to Predict Coronary Artery Disease, 06/14.
  22. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.81 Genetic Testing for Rett Syndrome, 11/15.
  23. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.89 Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies, 08/15.
  24. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.93 Genetic Cancer Susceptibility Panels Using Next Generation Sequencing, 04/15.
  25. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.94 Genetic Testing for Lactase Insufficiency, 05/14.
  26. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.00 Genetic Testing for Rett Syndrome, 09/14.
  27. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.95, Human Leukocyte Antigen (HLA) Testing for Celiac Disease, 05/14.
  28. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.96 Genetic Testing for Statin-Induced Myopathy, 05/14.
  29. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.99 Genetic Testing for Hereditary Pancreatitis, 08/15.
  30. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.116 Invasive Prenatal (Fetal) Diagnostic Testing, 10/15.
  31. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.121 Miscellaneous Genetic and Molecular Diagnostic Tests, 08/15.
  32. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.122 Chromosomal Microarray Testing for the Evaluation of Early Pregnancy Loss, 01/15.
  33. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.126 Genetic Testing for PALB2 Mutations, 01/15.
  34. Blue Cross Blue Shield Association Medical Reference Policy Manual 2.04.131 Pharmacogenetic Testing for Pain Management, 01/15.
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COMMITTEE APPROVAL:

This Medical Coverage Guideline (MCG) was approved by the BCBSF Medical Policy & Coverage Committee on 12/03/15.

GUIDELINE UPDATE INFORMATION:

11/15/03

Medical Coverage Guideline Annual review. Developed separate guideline for Genetic Testing For Miscellaneous Diagnoses. Developed separate genetic testing guidelines for the following: BRCA1 and BRCA2, colon cancer (FAP and HNPCC), and medullary carcinoma of the thyroid (RET proto-oncogene).

01/01/04

Annual HCPCS coding update: added S3853.

07/01/05

HCPCS update: added S0265.

12/15/05

Biennial review: coverage unchanged.

01/01/06

Annual HCPCS coding update: added 83900, 83907, 83908, 83909, 83914; revised 83898, 83901.

06/15/06

Revision to include new codes into limitation section.

01/01/07

Annual HCPCS coding update: added 96040; deleted 99401, 99402, 99403, and 99404.

07/15/07

Annual review, coverage statements maintained, guideline reformatted, references updated.

01/01/08

Annual HCPCS coding update: revised 83898, 83900, 83901, and 83908.

01/01/09

Annual HCPCS coding update: descriptor revised for codes 83890, 83891, 83892, 83893, 83894, 83897, 83900, 83903, 83907, 83909, and 83914.

10/15/09

Annual review: position statement, reimbursement section, guideline title and references updated.

12/15/10

Revision; description section, inheritable disease diagnosis table reimbursement and coding sections updated; prenatal test table and Other Genetic Tests section added.

07/15/10

Revision; Other Genetic Tests section updated.

10/01/11

Revision; formatting changes.

11/15/11

Revision; CPT code 88275 removed from the Reimbursement Information section.

01/01/12

Annual HCPCS update. Added codes 81200-81408.

02/15/12

Revision; Postnatal and Other Genetic Tests section, Billing/Coding Information section and references updated.

04/01/12

Quarterly HCPCS update. Deleted codes S3835, S3837, S3843, S3847, S3848, S3851, S3860, S3862.

08/15/12

Revision; Postnatal and Other Genetic Tests section updated.

10/15/12

Revision; Postnatal and Other Genetic Tests, Coding, and references updated.

01/01/13

Annual HCPCS update: added codes 81161, 81252-81254, 81321-81326; revised codes 81400-81408; deleted codes 83890-83914; updated reimbursement section. Prenatal & Postnatal Genetic Tests sections and references updated.

05/15/13

Revision; Genetic Testing to Establish a Diagnosis of Inheritable Disease and Postnatal and Other Genetic Tests sections updated; coding and references updated.

07/01/13

Quarterly HCPCS update. Added code 0004M; revised codes 81400-81408; Program Exceptions section updated.

08/15/13

Revision; Postnatal and Other Genetic Tests, Program Exceptions, and references updated.

09/15/13

Revision; experimental test list and references updated.

11/15/13

Revision; Postnatal and Other Genetic Tests section and references updated.

01/01/14

Annual HCPCS update. Added code 81287; revised codes 81371, 81376, & S3870.

02/15/14

Revision; position statement section updated.

07/01/14

Quarterly HCPCS update. Revised codes 81402 & 81404.

08/15/14

Revision; position statement section and references updated.

10/15/14

Revision; Position statement section and references updated.

01/01/15

Annual HCPCS/CPT update. Added codes 81246, 81313, 81410-81471;deleted code S3855.

03/15/15

Revision; position statement section, coding, and references updated.

07/01/15

Quarterly CPT/HCPCS update. Revised codes 81401 and 81406.

10/15/15

Revision; position statement section and references updated.

10/26/15

Revision; investigational test list updated.

11/15/15

Revision; coding section updated.

12/15/15

Revision; position statement section, coding, program exception, and references updated.

01/01/16

Annual HCPCS/CPT update; codes 81170, 81218, 81219, 81272, 81273, 81311, 81314, 81412, 81432-81434, 81437, 81438, 81442, 81493 added; codes 81355, 81401-81404, 81435, 81436, 81445-81455 revised; code S3721 deleted.

Private Property of Blue Cross and Blue Shield of Florida.
This medical policy (medical coverage guideline) is copyright 2013, Blue Cross and Blue Shield of Florida (BCBSF). All Rights Reserved. You may not copy or use this document or disclose its contents without the express written permission of BCBSF. The medical codes referenced in this document may be proprietary and owned by others. BCBSF makes no claim of ownership of such codes. Our use of such codes in this document is for explanation and guidance and should not be construed as a license for their use by you. Before utilizing the codes, please be sure that to the extent required, you have secured any appropriate licenses for such use. Current Procedural Terminology (CPT) is copyright 2013 American Medical Association. All Rights Reserved. No fee schedules, basic units, relative values, or related listings are included in CPT. The AMA assumes no liability for the data contained herein. Applicable FARS/DFARS restrictions apply to government use. CPT® is a trademark of the American Medical Association.The use of specific product names is illustrative only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available.

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Date Printed: February 8, 2016: 11:33 AM