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Medical Policy Manual
Evaluating the Utility of Genetic Panels
Next Review: July 2025 Last Review: September 2024
Genetic Testing, Policy No. 64
Effective: October 1, 2024
IMPORTANT REMINDER
Medical Policies are developed to provide guidance for members and providers regarding coverage in accordance with contract terms. Benefit determinations are based in all cases on the applicable contract language. To the extent there may be any conflict between the Medical Policy and contract language, the contract language takes precedence.
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these services.
DESCRIPTION
Genetic panel tests evaluate many genes simultaneously, and have been developed for numerous indications, including hereditary cancer risk assessment, pharmacogenetics, and diagnosis of congenital disorders. Many panel tests include genes that do not have demonstrated clinical utility for their testing.
MEDICAL POLICY CRITERIA
Note: Where applicable, specific policies that have criteria and evidence used to review genetic panel tests are noted (see Policy Cross-References in the table below).
When there is not enough research to show that a gene and/or gene variant in a genetic panel test may be used to manage treatment decisions and improve net health outcomes, then the entire genetic panel test is considered investigational, including but not limited to the following (with or without any optional add-on genes or components):
Test Name
Abnormal Genitalia/ Disorders of Sex Development Panel Aeon Pain Management PGX Profile
Laboratory Blueprint Genetics Aeon Clinical Laboratories
Policy CrossReference None
GT10
GT64 | 1
Amyotrophic Lateral Sclerosis Advanced Athena Diagnostics Evaluation Gene Panel
Amyotrophic Lateral Sclerosis Panel
Laboratory for Precision Diagnostics, University of Washington
Amyotrophic Lateral Sclerosis / Frontotemporal Lobar Degeneration Panel
GeneDx
Arthrogryposes Panel
Blueprint Genetics
ASD/ID Genetic Test Panel
Quadrant Laboratories
Ataxia Panel
Blueprint Genetics
Ataxia Repeat Expansion Panel
University of Chicago
Ataxia Complete Recessive Evaluation Athena Diagnostics
Ataxia, Comprehensive Evaluation
Athena Diagnostics
Ataxia/Episodic Ataxia Disorders (including any add-on components, e.g., mtDNA, SCA, HTT, FRDA Repeat Expansion Analysis)
Labcorp/MNG Laboratories
Ataxia Xpanded Panel
GeneDx
Autism, Intellectual Disability, and Developmental Delay Panel
Cincinnati Children's Hospital
Autism Spectrum Disorders Panel
Prevention Genetics
AutismNext
Ambry GeneticsTM
Autism/ID and Autism/ID Xpanded Panel GeneDx
Autoinflammatory Primary Immunodeficiency (PID) Gene Panel
Mayo Clinic
Autoinflammatory Syndrome Panel
Blueprint Genetics
Autosomal Dominant Thrombocytopenia Versiti Panel
Bacterial Typing by Whole Genome Sequencing
Mayo Clinic
Bartter Syndrome Panel
Blueprint Genetics
Beacon Expanded Carrier Panels (with Fulgent or without X-linked disorders)
Bleeding Disorders Panel
Prevention Genetics
Bone Marrow Failure Panel
Oregon Health & Science University, Knight Diagnostic Lab
Bone Marrow Failure Syndrome Panel Blueprint Genetics
None
None
None
None None None None None None None
None None
None None None None
None None
None
None GT81
None None
None
GT64 | 2
Bone Marrow Failure Syndromes Bone Marrow Failure Syndromes Panel
BrainTumorNext BRCANext-Expanded (with or without +RNAinsight) BRCAPlus and BRCAPlus Expanded Panel BROCA Cancer Risk Panel CancerNextTM and CancerNextTM Expanded CancerNextTM +RNAinsightTM CancerTYPE ID® Cardiac Arrhythmia Panel
Cardiomyopathy Panel
Cardiomyopathy Panel CardioNext Carrier Screening Full Panel Cataract Panel Test CentoNeuro Panel Cholestasis Panel
Chronic Lymphocytic Leukemia (CLL) Panel Ciliopathies Panels
Cleft Lip/Cleft Palate Panel Cleft Lip/Palate and Associated Syndromes Panel CMNext Panel Coagulation Disorder Panel Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel ColoNextTM and ColoNextTM +RNAinsightTM
Cincinnati Children's Hospital Children's Hospital of Philadelphia Ambry GeneticsTM Ambry GeneticsTM
Ambry GeneticsTM
University of Washington Ambry GeneticsTM
Ambry GeneticsTM bioTheranostics Laboratory for Precision Diagnostics, University of Washington Laboratory for Precision Diagnostics, University of Washington GeneDx Ambry GeneticsTM Atlas Genomics Blueprint Genetics Centogene Oregon Health & Science University ARUP
Oregon Health & Science University Prevention Genetics Blueprint Genetics
Ambry GeneticsTM Versiti ARUP
Ambry GeneticsTM
None None
None GT02
GT02
GT02 None
None GT15 None
None
None None GT81 None None None
None
None
None None
None None None
GT06
GT64 | 3
Colorectal Cancer Panel
GeneDx
ColoSeqTM Lynch and Polyposis
University of Washington
Combined Cardiac Panel
GeneDx
Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel
Invitae
Common Cancer Management Panel GeneDx
Comprehensive Arrhythmia/Cardiomyopathy Panel
Laboratory for Precision Diagnostics, University of Washington
Comprehensive Bleeding Disorder Panel
Versiti
Comprehensive Brain Malformation Panel
Prevention Genetics
Comprehensive Brain Malformations Panel
GeneDx
Comprehensive Breast Cancer Panel Genetics Center
Comprehensive Common Cancer Panel GeneDx
Comprehensive Congenital Heart Disease Panel
Prevention Genetics
Comprehensive Dystonia Panel
Labcorp/MNG Laboratories
Comprehensive Hematology and Hereditary Cancer Panel
Blueprint Genetics
Comprehensive Hereditary Cancer Panel
Blueprint Genetics
Comprehensive Hereditary Cancer Panel
Quest Diagnostics
Comprehensive Hereditary Spastic Paraplegia (HSP) Panel
GeneDx
Comprehensive Immune and Cytopenia Blueprint Genetics Panel
Comprehensive Inherited Kidney Disease Panel
Prevention Genetics
Comprehensive Inherited Retinal Dystrophies Panel
Prevention Genetics
Comprehensive Ocular Disorders (includes RPGR ORF15) Panel
Prevention Genetics
Comprehensive Neuromuscular Panel Prevention Genetics
Comprehensive Personalized Medicine Alpha Genomix Laboratories Panel
Comprehensive Pharmacogenetic Panel Advanced Genomics
GT06 GT06 None None None None
None None None GT02 None None None None None None None None None None None None GT10 GT10
GT64 | 4
Comprehensive Platelet Disorder Panel Versiti
Comprehensive Short Stature Syndrome Blueprint Genetics Panel
Comprehensive Skeletal Dysplasias and Blueprint Genetics Disorders Panel
Comprehensive Spinocerebellar Ataxia Labcorp/MNG Laboratories Repeat Expansion Panel
Congenital Abnormalities of the Kidney Prevention Genetics Tract (CAKUT) Panel
Congenital Adrenal Hyperplasia (CAH) Prevention Genetics Panel
Congenital Adrenal Hyperplasia NGS Panel
Fulgent
Congenital Adrenal Hyperplasia Panel Blueprint Genetics
Congenital Anomalies of the Gastrointestinal Tract Panel
Prevention Genetics
Congenital Central Hypoventilation Panel
Prevention Genetics
Congenital Diaphragmatic Hernia Panel Prevention Genetics
Congenital Hypothyroidism and Thyroid Prevention Genetics Hormone Resistance Panel
Congenital Limb Malformation Panel
Prevention Genetics
Congenital Myopathy and Muscular Dystrophy Panel
GeneDx
Congenital Stationary Night Blindness Panel
Prevention Genetics
Cornelia de Lange and Related Disorders Panel
Prevention Genetics
Cortical Brain Malformation Panel
GeneDx
Craniosynostosis NGS Panel
Connective Tissue Gene Tests (CTGT)
Craniosynostosis NGS Panel
Fulgent
Cystic Kidney and Liver Diseases Panel GeneDx
Cystic Kidney Disease Panel
Blueprint Genetics
DecisionDx-UMSeq
Castle Biosciences
DetoxiGenomic® Profile Test
Genova® Diagnostics
Differences in Sex Development Sequencing
Seattle Children's Hospital
None None
None
None
None
None
None
None None
None
None None
None None
None
None
None None
None None None None GT10 None
GT64 | 5
Differences of Sex Development (DSD) Panel Distal Arthrogryposis Sequencing Panel
Distal Arthrogryposis Panel Dystonia and Choreatic Movement Disorder Panel Dystonia Panel Early Advantage Panel Ectrodactyly/Split Hand-Split Foot Malformation Panel Empower Multi-Cancer and MultiCancer Expanded and Comprehensive Panels Episodic Pain Syndrome Sequencing Panel Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel Female Infertility NGS Panel Fibrinolytic Disorder Panel ForesightTM Carrier Screen Universal Panel and Universal Panel Plus Full Hereditary Cancer Panel FusionPlex Pan-Heme Panel
GenArrayTM GeneAware Complete Panel GeneDoseTM GeneSeq®: Cardio-Early-onset Coronary Artery Disease/Familial Hypercholesterolemia Profile GeneSight® Psychotropic Genetic Testing Genetic Platelet Disorders Panel GeneticsNow® Comprehensive Germline Panel GeneTrails® Comprehensive Heme Panel (previously GeneTrails®
Prevention Genetics
University of Chicago Genetics Services Laboratories Prevention Genetics University of Washington
GeneDx NxGEN MDx GeneDx
Natera, Inc.
Prevention Genetics
Prevention Genetics
Fulgent Versiti Myriad
myTest Diagnostics Laboratory for Precision Diagnostics, University of Washington GenPath Diagnostics Miraca, Baylor Genetics Coriell Life Sciences Labcorp
Assurex Health/Myriad
Labcorp GoPath
Oregon Health & Science Univ
None None None None None GT82 None None
None None
None None GT81 None GT59
None GT81 GT10 GT11
GT53 None None GT59
GT64 | 6
Hematologic Malignancies 220 Gene Panel)
Genomic Unity® Ataxia Repeat Expansion Analysis
Variantyx
Genomic Unity® Comprehensive Ataxia Variantyx Analysis
Genomic Unity Movement Disorders Analysis
Variantyx
Genomind® Professional PGx ExpressTM
Genomind LLC
Guideline-based Hereditary Cancer Panel
Quest Diagnostics
GxVision Comprehensive Inherited Cancer Gene Test
Otogenetics
Hematologic Malignancies Panel
Penn Medicine
Heme-STAMP
Stanford University
Hereditary Breast Cancer Panel
Quest Diagnostics
Hereditary Cancer Predisposition Panel Magee-Women's Hospital
Hereditary Hemochromatosis Panel
Prevention Genetics
Hereditary Hemorrhagic Telangiectasia Asante Lab and Vascular Malformations Gene Panel
Hereditary Leukemia Panel
Blueprint Genetics
Hereditary Ovarian Cancer Panel
Prevention Genetics
HopeSeq HemeComplete
City of Hope National Medical Center
HorizonTM 27
Natera, Inc.
HorizonTM 106
Natera, Inc.
HorizonTM 274
Natera, Inc.
HorizonTM 421
Natera, Inc.
HSP, Comprehensive Evaluation
Athena Diagnostics
Hydrocephalus Panel
Prevention Genetics
Hydrops Sequencing Panel
Greenwood Genetics
Hyperparathyroidism Panel
Blueprint Genetics
Hypoglycemia Panel - Expanded
Prevention Genetics
Hypogonadotropic Hypogonadism/ Kallmann Syndrome Panel
Prevention Genetics
Hypogonadotropic Hypogonadism Panel GeneDx
InheriGen Panel and InheriGen Plus
GenPath Diagnostics
None
None
None
GT53
None
None
GT59 GT59 GT02 None None None
None GT02 GT59
GT81 GT81 GT81 GT81 None None None None None None
None GT81
GT64 | 7
Inherited Bone Marrow Failure Panel Inherited Pancreatic Cancer Panel
Inherited Thrombocytopenia Panel Inheritest Ashkenazi Jewish Carrier Screening Panel Inheritest Carrier Screen, Comprehensive Panel Inheritest 100 PLUS Panel, 300 PLUS Panel and 500 PLUS Panel Intellectual Disability, Epilepsy, and Autism (IDEA) Panel Invitae Amyotrophic Lateral Sclerosis Panel Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae Arrhythmia Comprehensive Panel Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae Bone Marrow Failure Syndromes Panel Invitae Brain Malformations Panel Invitae Breast and Gyn Cancers Guidelines-Based Panel Invitae Breast Cancer Guidelines-Based Panel Invitae Breast Cancer Panel Invitae Broad Carrier Screen Invitae Cancer Screen Invitae Cataracts Panel Invitae Cerebral Palsy Spectrum Disorders Panel Invitae Cholestasis Panel Invitae Ciliopathies Panel Invitae Colorectal Cancer Panel Invitae Common Hereditary Cancer Panel
Prevention Genetics Oregon Health & Science University, Knight Diagnostic Lab Versiti LabCorp/Integrated Genetics
LabCorp/Integrated Genetics
LabCorp/Integrated Genetics
Prevention Genetics
Invitae
Invitae
Invitae
Invitae
Invitae
Invitae Invitae
Invitae
Invitae Invitae Invitae Invitae Invitae
Invitae Invitae Invitae Invitae
None None
None GT81
GT81
GT81
None
None
None
None
None
None
None None
GT02
GT02 GT81 None None None
None None None GT02
GT64 | 8
Invitae Comprehensive Carrier Screen
Invitae Comprehensive Lipidemia Panel
Invitae Comprehensive Muscular Dystrophy Panel
Invitae Comprehensive Myopathy Panel
Invitae Comprehensive Neuromuscular Disorders Panel
Invitae Comprehensive Neuropathies Panel
Invitae Comprehensive Porphyrias Panel
Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Invitae Congenital Heart Defects and Heterotaxy Panel
Invitae Congenital Heart Disease Panel
Invitae Congenital Muscular Dystrophy Panel
Invitae Congenital Myasthenic Syndrome Panel
Invitae Cornelia de Lange and Related Disorders Panel
Invitae Cystic Kidney Disease Panel
Invitae Dystonia Comprehensive Panel
Invitae Ectodermal Dysplasias and Related Disorders Panel
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel
Invitae Elevated Very Long chain Fatty Acids Panel (including X-ALD)
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel
Invitae Expanded Renal Disease Panel
Invitae Familial Hemiplegic Migraine Panel
Invitae Frontotemporal Dementia Panel
Invitae Gastric Cancer Panel
Invitae Glaucoma Panel
Invitae Invitae Invitae
Invitae Invitae
Invitae
Invitae
Invitae
Invitae
Invitae Invitae
Invitae
Invitae
Invitae Invitae Invitae
Invitae
Invitae
Invitae
Invitae Invitae
Invitae Invitae Invitae
GT81 None None None None None None None None None None None None None None None None None None None None GT01 None None
GT64 | 9
Invitae Hereditary Amyotrophic Lateral Invitae Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel
Invitae Hereditary Breast and Gyn Cancers Panel
Invitae
Invitae Hereditary Cerebral Small Vessel Invitae Disease Panel
Invitae Hereditary Hemochromatosis Panel
Invitae
Invitae Hereditary Nervous System/Brain Cancer Panel
Invitae
Invitae Hereditary Parkinson's Disease Invitae and Parkinsonism Panel
Invitae Hereditary Sarcoma Panel
Invitae
Invitae Hereditary Spastic Paraplegia Comprehensive Panel
Invitae
Invitae Hereditary Thrombophilia Panel Invitae
Invitae Hereditary Thyroid Cancer Panel Invitae
Invitae Hyperammonemia Panel
Invitae
Invitae Hypoglycemia Panel
Invitae
Invitae Hypogonadotrophic Hypogonadism Panel
Invitae
Invitae Hypoparathyroidism Panel
Invitae
Invitae Hypophosphatemia Panel
Invitae
Invitae Inborn Errors of Immunity and Cytopenias Panel
Invitae
Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel
Invitae
Invitae Inherited Retinal Disorders Panel Invitae
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Invitae
Invitae Limb and Digital Malformations Invitae Panel
Invitae Melanoma Panel
Invitae
Invitae Metabolic Newborn Screening Confirmation Panel
Invitae
Invitae Methylmalonic Acidemia and Homocystinuria Panel
Invitae
None
GT02 None None None None None None None None None None None None None None None None None None GT08 None None
GT64 | 10
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel
Invitae Monogenic Diabetes Panel
Invitae Multi-Cancer Panel and MultiCancer+RNA Panel
Invitae Myelodysplastic Syndrome/Leukemia Panel
Invitae Neonatal Respiratory Distress Panel
Invitae Nephrolithiasis Panel
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel
Invitae Neurodegeneration with Brain Iron Accumulation Panel
Invitae Neurodevelopmental Disorders (NDD) Panel
Invitae Organic Acidemias Panel
Invitae Overgrowth and Macrocephaly Syndromes Panel
Invitae Overgrowth Syndromes Panel
Invitae Pancreatic Cancer Panel
Invitae Pediatric Solid Tumors Panel
Invitae Periodic Paralysis Panel
Invitae Phagocytic Disorders Including Neutropenia Panel
Invitae Primary Immunodeficiency Panel
Invitae Progressive Renal Disease Panel
Invitae Prostate Cancer Panel
Invitae Pulmonary Arterial Hypertension Panel
Invitae RASopathies and Noonan Spectrum Disorders Panel
Invitae Renal Tubular Disorders Panel
Invitae Renal/Urinary Tract Cancers Panel
Invitae Rett and Angelman Syndromes and Related Disorders Panel
Invitae
Invitae Invitae
Invitae
Invitae
Invitae Invitae
Invitae
Invitae
Invitae Invitae
Invitae Invitae Invitae Invitae Invitae
Invitae Invitae
Invitae Invitae
Invitae
Invitae Invitae
Invitae
None
None None None None None None
None None None None None None None None None None None None None None None None None
GT64 | 11
Invitae Rhabdomyolysis and Metabolic Invitae Myopathy Panel
Invitae Skeletal Disorders Panel
Invitae
Kabuki Syndrome Panel
Prevention Genetics
Leukodystrophy and Leukoencephalopathy Panel
Blueprint Genetics
Leukodystrophy and Leukoencephalopathy Panel
Prevention Genetics
Leukoencephalopathy NGS Panel
Fulgent
Limb Abnormalities and Reduction Defects Panel
GeneDx
LipidSeqTM
Boston Heart Diagnostics
Lipodystrophy NGS Panel
Fulgent
Low Bone Mass Panel
Baylor Genetics
Lymphoid Gene Panel by NGS
University of Washington
Metabolic Myopathies Panel
University of Washington
Metabolic Myopathies, Rhabdomyolysis, Prevention Genetics and Exercise Intolerance Panel
Metabolic Myopathy and Rhabdomyolysis Panel
Blueprint Genetics
Metabolic Myopathy Panel
GeneDx
Microcephaly Panel and Microcephaly Xpanded Panel
GeneDx
Microcephaly Sequencing Panel
University of Chicago Genetics Services Laboratory
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
Blueprint Genetics
Microphthalmia/Anophthalmia/Coloboma Prevention Genetics Panel
Migraine and Stroke Panel
Oregon Health & Science University, Knight Diagnostic Lab
Migraine Panel
Blueprint Genetics
MODY Panel
Blueprint Genetics
Movement Disorder Ataxia Panel
Laboratory for Precision Diagnostics, University of Washington
MVL Vision Panel
Molecular Vision Laboratory
None
None None None
None
None None
GT11 None None None None None
None
None None
None
None
None
None
None None None
None
GT64 | 12
MyAML® 194 Targeted NGS Gene Panel
Invivoscribe
MyGenVar Pharmacogenomics Test
Geisinger Medical Laboratory
myMRD NGS Panel
Lab for Personalized Molecular Medicine
Myopathies and Myotonia, Muscular Dystrophies and Limb Girdle Panel
Laboratory for Precision Diagnostics, University of Washington
Myotonic Syndrome Advanced Evaluation Panel
Athena Diagnostics
myRiskTM Hereditary Cancer Panel (Update myRiskTM)
Myriad
Nephrolithiasis Panel
Blueprint Genetics
Nephrotic Syncrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel
Prevention Genetics
Nephrotic Syndrome Panel
Blueprint Genetics
Neuromuscular Disorders Panel
GeneDx
Neuro-ophthalmology Panel
Blueprint Genetics
Neurotransmitter Metabolism Deficiency Labcorp/MNG Laboratories
Neurotransmitter Metabolism Deficiency Fulgent NGS Panel
NGS Hematology Molecular Profile
Sonora Quest Laboratories
Non-Immune Hydrops Fetalis Panel
Prevention Genetics
Non-NF1 RASopathy Panel
University of Alabama
NxGen MDx Hereditary Cancer Panel NxGen MDx
NxGen Super Panel
NxGen MDx
OI and Genetic Bone Disorders Panel
Laboratory for Precision Diagnostics, University of Washington
OmniSeq® Immune Report Card
OmniSeq®
Optic Atrophy Panel
Blueprint Genetics
Optic Atrophy Panel
Prevention Genetics
Osteopetrosis and Dense Bone
Connective Tissue Gene Tests
Dysplasia NGS/Del Dup Comprehensive (CTGT)
Panel
Overgrowth and Macrocephaly Syndromes Panel
Prevention Genetics
Pan Cardiomyopathy Panel
Prevention Genetics
GT59
GT10 None
None
None
None
None None
None None None GT65 None
GT59 None None None GT81 None
None None None None
None
GT64 | 13
Pan Cardiomyopathy Panel
PancNextTM Pancreatic Cancer Panel Pediatric Cancer Panel Peroxisomal Disorders Panel Personalized Medicine Panel Comprehensive Panel Personalized Medication Panel Phagocytic Primary Immunodeficiency (PID) Gene Panel Pharmacogenetics PGx Pharmacogenomics Panel Platelet Disorders, Comprehensive Gene Panel Platelet Disorders Gene Sequencing Panel
Platelet Disorders Panel
Platelet Function Disorder Panel Platelet Genex Functional Defect Panel Polycystic Kidney Disease Panel Polycystic Liver Disease Panel Pontocerebellar Hypoplasia Panel Porphyria Gene Panel Premature Ovarian Failure Panel Premature Ovarian Failure Panel Preventest Primary Antibody Deficiency Panel Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel Primary Immunodeficiency Panel Professional PGx and Professional PGx Express (CORE and FULL) ProstateNextTM
Seattle Children's
None
Hospital/Personalized Medicine
Partners
Ambry GeneticsTM
None
GeneDx
None
Prevention Genetics
None
Prevention Genetics
None
Capstone Healthcare
GT10
UpFront Laboratories Mayo Clinic
GT10 None
Lineagen Quest Diagnostics Mayo Clinic
GT10 GT10 None
Cincinnati Children's Human Genetics- Cytogenetics and Molecular Genetics Laboratories Oregon Health & Science University Versiti Machaon Diagnostics Blueprint Genetics Prevention Genetics GeneDx Blueprint Genetics Blueprint Genetics Prevention Genetics GeneID ARUP Blueprint Genetics
None
None
None None None None None None None None None None None
Blueprint Genetics Genomind
None GT53
Ambry GeneticsTM
GT17
GT64 | 14
ProstateNow® Psych HealthPGx Panel Psychiatric/Mental Health Panel Psychotropic Drug Profile ProstateNext +RNAinsightTM Psychiatry/ADHD Panel Pulmonary Arterial Hypertension Panel Pulmonary Arterial Hypertension Panel PyloriARTM/AmHPR® H. pylori Antibiotic Resistance NGS Panel Qherit 381 Diseases, Male Qherit 421 Diseases, Female Qherit Extended (both Female and Male versions) Qherit Plus, Female RenalNextTM and RenalNextTM+RNAinsight Renasight Kidney Gene Panel Response Pharmacogenetics Testing Retinal Dystrophy Panel Retinal Dystrophy Panel
Rett/Angelman Syndrome Sequencing Panel Rett/Angelman Syndrome Sequencing Panel Rett/Angelman Syndrome Panel RightMed® Panels and Gene Report/Medication Report (including the Mental Health, PGx16, and Comprehensive Tests with or without F2 and F5) RiskguardTM RNA Heme Fusion Panel Sarcoma Targeted Gene Fusion Panel Skeletal Disorders and Joint Problems Panel Somatic Overgrowth Panel
GoPath RPRD Diagnostics GeneID GeneTrait Laboratories Ambry GeneticsTM Alpha Genomix Laboratories ARUP GeneDx American Molecular Labs
Quest Diagnostics Quest Diagnostics Quest Diagnostics
Quest Diagnostics Ambry GeneticsTM
Natera, Inc. LabSolutions Blueprint Genetics Laboratory for Precision Diagnostics, University of Washington Greenwood Genetic Center
Seattle Children's Hospital
GeneDx OneOme
Exact Sciences Seattle Children's Hospital Mayo Clinic Prevention Genetics
Washington University
None GT53 GT53 GT53 GT17 GT53 None None None
GT81 GT81 GT81
GT81 None
None GT10 None None
None
None
None GT10/GT53
None None None None
None
GT64 | 15
Spastic Paraplegia Spastic Paraplegia (NGS Panel and Copy Number Analysis + mtDNA) Spinocerebellar Ataxia Repeat Expansion Panel Stargardt Disease (STGD) and Macular Dystrophies Panel Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraines Panel Sudden Cardiac Arrest Panel Syndromic Autism Sequencing Panel Tempus nP Tempus xG and xG+ Thrombocytopenia Panel Thrombosis Panel UroSeq VACTERL Association and Related Disorders Panel VanSeq Expanded Sequencing Panel Vascular Malformations Panel VistaSeq Breast Cancer Panel VistaSeq Hereditary Cancer Panel VistaSeq Pancreatic Cancer Panel VistaSeq Renal Cell Cancer Panel Vitreoretinopathy NGS Panel
Vitreoretinopathy Panel Vitreoretinopathy Panel and Vitreoretinopathy Panel Plus X-linked Intellectual Disability YouScript® Personalized Prescribing System
Labcorp/MNG Laboratories Labcorp/MNG Laboratories
Labcorp/MNG Laboratories
Prevention Genetics
Prevention Genetics
Prevention Genetics Greenwood Genetic Center Tempus Tempus Blueprint Genetics Versiti Know Error Prevention Genetics
Seattle Children's Hospital ARUP LabCorp LabCorp LabCorp LabCorp Connective Tissue Gene Tests (CTGT) Molecular Vision Laboratory Blueprint Genetics
Greenwood Genetic Center Invitae
None None
None
None
None
None None GT53 None None None None None
None None GT02 None None None None
None None
None GT10
NOTE: A summary of the supporting rationale for the policy criteria is at the end of the policy.
LIST OF INFORMATION NEEDED FOR REVIEW
In order to determine the clinical utility of gene test(s), all of the following information must be submitted for review:
GT64 | 16
1. Name of the genetic test(s) or panel test 2. Name of the performing laboratory and/or genetic testing organization (more than one
may be listed) 3. The exact gene(s) and/or variant(s) being tested 4. Relevant billing codes 5. Brief description of how the genetic test results will guide clinical decisions that would
not otherwise be made in the absence testing 6. Medical records related to this genetic test, if available:
o History and physical exam o Conventional testing and outcomes o Conservative treatment provided
CROSS REFERENCES
1. Medical Policy Manual: Genetic Testing Section Table of Contents
BACKGROUND
New genetic technology, such as next generation sequencing and chromosomal microarray, has led to the ability to examine many genes simultaneously.[1] This in turn has resulted in a proliferation of genetic panels. The intended use for these panels is variable. For example, for the diagnosis of hereditary disorders, a clinical diagnosis may already be established, and genetic testing is performed to determine whether there is a hereditary condition, and/or to determine the specific variant that is present. In other cases, there is a clinical syndrome (phenotype) with a broad number of potential diagnoses and genetic testing is used to make a specific diagnosis. For cancer panels, there are also different intended uses. Some panels may be intended to determine whether a known cancer is part of a hereditary cancer syndrome. Other panels may include somatic variants in a tumor biopsy specimen that may help identify a cancer type or subtype and/or help select best treatment.
Panels using next generation technology are currently available in the areas of cancer, cardiovascular disease, neurologic disease, psychiatric conditions, and for reproductive testing.[2-4] These panels are intuitively attractive to use in clinical care because they can screen for numerous variants within a single or multiple genes quickly, and may lead to greater efficiency in the work-up of genetic disorders. It is also possible that these "bundled" gene tests can be performed more cost effectively than direct sequencing, although this may not be true in all cases. However, panel testing also provides information on genetic variants that are of unclear clinical significance or which would not lead to changes in patient management.
One potential challenge of genetic panel testing is the availability of a large amount of ancillary genetic information, much of which has uncertain clinical consequences and management strategies. Identification of variants for which the clinical management is uncertain may lead to unnecessary follow-up testing and procedures, all of which have their own inherent risks.
Additionally, the design and composition of genetic panel tests have not been standardized. Composition of the panels is variable, and different commercial products for the same condition may test different sets of genes. The make-up of the panel is determined by the specific lab that has developed the test. In addition, the composition of any individual panel is likely to change over time, as new variants are discovered and added to the existing panels.
GENETIC COUNSELING
GT64 | 17
Due to the complexity of interpreting genetic test results, patients should receive pre- and posttest genetic counseling from a qualified professional when testing is performed to diagnose or predict susceptibility for inherited diseases. The benefits and risks of genetic testing should be fully disclosed to individuals prior to testing, and counseling concerning the test results should be provided.
REGULATORY STATUS
The majority of genetic panel tests are laboratory derived tests that are not subject to U.S. Food and Drug Administration (FDA) approval. Clinical laboratories may develop and validate tests in-house ("home-brew") and market them as a laboratory service; such tests must meet the general regulatory standards of the Clinical Laboratory Improvement Act (CLIA). The laboratory offering the service must be licensed by CLIA for high-complexity testing.
Note: Separate Medical Policies may apply to some specific genetic tests and panels not addressed in the criteria below. See the Genetic Testing Section of the Medical Policy Manual Table of Contents for additional genetic testing policies.
EVIDENCE SUMMARY
Human Genome Variation Society (HGVS) nomenclature[5] is used to describe variants found in DNA and serves as an international standard. It is being implemented for genetic testing medical evidence review updates starting in 2017. According to this nomenclature, the term "variant" is used to describe a change in a DNA or protein sequence, replacing previouslyused terms, such as "mutation." Pathogenic variants are variants associated with disease, while benign variants are not. The majority of genetic changes have unknown effects on human health, and these are referred to as variants of uncertain significance.
Genetic cancer susceptibility panels utilizing next generation sequencing are best evaluated in the framework of a diagnostic test, as the test provides diagnostic information that assists in treatment decisions. The clinical utility of genetic panel testing refers to the likelihood that the panel will result in improved health outcomes. For positive test results, the health benefits are related to interventions that reduce the risk of developing the disease, earlier or more intensive screening to detect and treat early disease symptoms, or interventions to improve quality of life.
· Alternatively, negative test results may prevent unnecessary intensive monitoring, invasive tests or procedures, or ineffective therapies.
For genetic panels that test for a broad number of variants, some components of the panel may be indicated based on the patient's clinical presentation and/or family history, while other components may not be indicated. The impact of test results related to non-indicated variants must be well-defined and take into account the possibility that the information may cause harm by leading to additional unnecessary interventions that would not otherwise be considered based on the patient's clinical presentation and/or family history.
Therefore, the focus of the following review is on evidence from well-designed controlled trials or large cohort studies that demonstrate the clinical utility of each panel test, i.e., the ability of results from the comprehensive genetic panels to:
1. Guide decisions in the clinical setting related to either treatment, management, or prevention; and
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2. Improve health outcomes as a result of those decisions.
A limited body of literature exists on the potential clinical utility of available next generation sequencing (NGS) panels.
NONRANDOMIZED STUDIES
Desmond (2015) reported on an observational study assessing whether testing of hereditary cancer gene variants other than BRCA1/2 altered clinical management in a prospectively collected cohort of 1046 patients from three institutions who were negative for BRCA1/2.[6] Patients were tested with the 29-gene Hereditary Cancer Syndromes test (Invitae) or the 25gene MyRisk test (Myriad Genetics). The investigators evaluated the likelihood of a post-test change in management considering gene-specific consensus management guidelines, geneassociated cancer risks, and personal and family history. Of this cohort, 40 patients (3.8%, 95% CI 2.8% to 5.2%) harbored deleterious variants, most commonly in moderate-risk breast and ovarian cancer genes and Lynch syndrome genes. Among 63 variant-positive patients, 20 were found to harbor variants in high-risk genes associated with detailed NCCN management guidelines which would change the pretest recommendations for screening and/or preventive surgery. However, the most common variants found were those in genes associated with low or moderately increased breast cancer risk (40 of 63 patients), where a change in management would be recommended for these patients in a minority of cases (10 of 40), involving either increased screening or preventive surgery. Since this study only reported anticipated changes in management, these variant-positive patients were not provided with these post-test recommendations. The investigators conceded that the potential clinical effect reported in this cohort is likely to apply only to an appropriately ascertained cohort, thereby limiting the generalizability of the results.
Kurian (2014) evaluated the information from a NGS panel of 42 cancer associated genes in women who had been previously referred for clinical BRCA1/2 testing after clinical evaluation of hereditary breast and ovarian cancer from 2002 to 2012.[7] The authors aimed to assess concordance of the results of the panel with prior clinical sequencing, the prevalence of potentially clinically actionable results, and the downstream effects on cancer screening and risk reduction. Potentially actionable results were defined as pathogenic variants that cause recognized hereditary caner syndromes or have a published association with a two-fold or greater relative risk of breast cancer compared to average risk women. In total, 198 women participated in the study. Of these, 174 had breast cancer and 57 carried 59 germline BRCA variants. Testing with the panel confirmed 57 of 59 of the pathogenic BRCA variants; of the two others, one was detected but reclassified as a VUS and the other was a large insertion that would not be picked up by NGS panel testing. Of the women who tested negative for BRCA variants (n=141), 16 had pathogenic variants in other genes (11.4%). The affected genes were ATM (n=2), BLM (n=1), CDH1 (n=1), CDKN2A (n=1), MLH1 (n=1), MUTYH (n=5), NBN (n=2), PRSS1 (n=1), and SLX4 (n=2). Eleven of these variants had been previously reported in the literature and five were novel. 80% of the women with pathogenic variants in the non BRCA1/2 genes had a personal history of breast cancer. Overall, a total of 428 VUS were identified in 39 genes, among 175 patients.
Six women with variants in ATM, BLM, CDH1, NBN and SLX4 were advised to consider annual breast MRIs because of an estimated doubling of breast cancer risk, and six with variants in CDH1, MLH1 and MUTYH were advised to consider frequent colonoscopy and/or endoscopic gastroduodenoscopy (once every 1 to 2 years) due to estimated increases in
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gastrointestinal cancer risk. One patient with a MLH1 variant consistent with Lynch syndrome underwent risk-reducing salpingo-oophorectomy and early colonoscopy which identified a tubular adenoma that was excised (she had previously undergone hysterectomy for endometrial carcinoma).
Mauer (2014) reported a single academic center's genetics program's experience with NGS panels for cancer susceptibility.[8] The authors conducted a retrospective review of the outcomes and clinical indications for the ordering of Ambry's next generation sequencing panels (BreastNext, OvaNext, ColoNext, and CancerNext) for patients seen for cancer genetics counseling from April 2012 to January 2013. Of 1,521 new patients seen for cancer genetics counseling, 1,233 (81.1%) had genetic testing. Sixty of these patients (4.9% of the total) had a next generation sequencing panel ordered, 54 of which were ordered as a secondtier test after single-gene testing was performed. Ten tests were cancelled due to out-of-pocket costs or previously identified variants. Of the 50 tests obtained, five were found to have a deleterious result (10%, compared with 131 [10.6%] of the 1,233 single-gene tests ordered at the same center during the study time frame). The authors report that of the 50 completed tests, 30 (60%) did not affect management decisions, 15 (30%) introduced uncertainty regarding the patients' cancer risks, and five (10%) directly influenced management decisions.
A number of other studies have evaluated the impact of panel testing on clinical management of a variety of conditions, including prostate cancer,[9] breast and/or ovarian cancer,[10-13] and non-specific hereditary cancers,[14] as well as genetic profiling of tumor tissue to guide cancer treatment.[15, 16] While some of these studies noted specific changes in medical management resulting from the testing, none of them evaluated whether these changes led to improvements in patient outcomes.
PRACTICE GUIDELINE SUMMARY
AMERICAN SOCIETY OF CLINICAL ONCOLOGY
A 2015 update of a policy statement on genetic and genomic testing for cancer susceptibility from the American Society of Clinical Oncology (ASCO) addresses the application of nextgeneration sequencing.[17] According to this statement:
ASCO recognizes that concurrent multigene testing (i.e., panel testing) may be efficient in circumstances that require evaluation of multiple high-penetrance genes of established clinical utility as possible explanations for a patient's personal or family history of cancer. Depending on the specific genes included on the panel employed, panel testing may also identify mutations in genes associated with moderate or low cancer risks and mutations in high-penetrance genes that would not have been evaluated on the basis of the presenting personal or family history. Multigene panel testing will also identify variants of uncertain significance (VUS) in a substantial proportion of patient cases. ASCO affirms that it is sufficient for cancer risk assessment to evaluate genes of established clinical utility that are suggested by the patient's personal and/or family history. Because of the current uncertainties and knowledge gaps, providers with particular expertise in cancer risk assessment should be involved in the ordering and interpretation of multigene panels that include genes of uncertain clinical utility and genes not suggested by the patient's personal and/or family history.
This type of testing may be particularly useful in situations where there are multiple high-penetrance genes associated with a specific cancer, the prevalence of actionable
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mutations in one of several genes is high, and it is difficult to predict which gene may be mutated on the basis of phenotype or family history.
So far, there is little consensus as to which genes should be included on panels offered for cancer susceptibility testing- this heterogeneity presents a number of challenges. All panels include high-penetrance genes that are known to cause autosomal-dominant predisposition syndromes, but often include genes that are not necessarily linked to the disease for which the testing is being offered. There is uncertainty regarding the appropriate risk estimates and management strategies for families with unexpected mutations in high-penetrance genes when there is no evidence of the associated syndrome. Clinical utility remains the fundamental issue with respect to testing for mutations in moderate penetrance genes. It is not yet clear whether clinical management should change based on the presence or absence of a mutation. There is insufficient evidence at the present time to conclusively demonstrate the clinical utility of testing for moderate-penetrance mutations, and no guidelines exist to assist oncology providers. Early experience with panel-based testing indicates that a substantial proportion of tests identify a VUS in 1 or more genes, and VUSs are more common in broad-panel testing both because of the number of genes tested and because of the limited understanding of the range of normal variation in some of these genes.
NATIONAL COMPREHENSIVE CANCER NETWORK
The National Comprehensive Cancer Network (NCCN) guidelines on genetic/familial high-risk assessment for breast, ovarian, and pancreatic cancer (v.1.2023)[18] state the following regarding multi-gene testing:
· An individual's personal and/or family history may be explained by more than one inherited cancer syndrome; thus, phenotype-directed testing based on personal and family history through a tailored multi-gene panel test is often more efficient and cost-effective and increases the yield of detecting a P/LP [pathogenic/likely pathogenic] variant in a gene that will impact medical management for the individual or their at-risk family members.
· There may also be a role for multi-gene testing in individuals who have tested negative for a single syndrome, but whose personal or family history remains suggestive of an inherited susceptibility.
· Some individuals may carry P/LP germline variants in more than one cancer susceptibility gene; thus, consideration of a multi-gene panel for individuals already known to carry a single P/LP germline variant from phenotype-directed testing may be considered on a caseby-case basis, based on the degree of suspicion for there being additional variants.
· Multi-gene testing can include "intermediate" penetrant (moderate-risk) genes. For many of these genes, there are limited data on the degree of cancer risk, and there may currently be no clear guidelines on risk management for carriers of P/LP variants. Not all genes included on available multi-gene tests will change risk management compared to that based on other risk factors such as family history.
· It may be possible to refine risks associated with both moderate and high-penetrance genes, taking into account the influence of gene/gene or gene/environment interactions. In addition, certain P/LP variants in a gene may pose higher or lower risk than other P/LP variants in that same gene. This information should be taken into consideration when assigning risks and management recommendations for individuals and their at-risk relatives.
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· P/LP variants in many breast, ovarian, pancreatic, and prostate cancer susceptibility genes involved in DNA repair may be associated with rare autosomal recessive conditions, thus posing risks to offspring if the partner is also a carrier.
· As more genes are tested, there is an increased likelihood of finding VUS, mosaicism, and clonal hematopoiesis of indeterminate potential (CHIP).
· There are significant limitations in interpretation of polygenic risk scores (PRSs). PRS should not be used for clinical management at this time and use is recommended in the context of a clinical trial, ideally including more diverse populations.
SUMMARY
Genetic test panels are available for many clinical conditions. Genetic test panels may be focused to a few genes or include a large number of genes. The advantage of genetic test panels is the ability to analyze many genes simultaneously, potentially improving the breadth and efficiency of the genetic workup. A disadvantage of genetic test panels is that the results may provide information on genetic variants that are of unclear clinical significance, or which would not lead to changes in patient management. These results may potentially cause harm by leading to additional unnecessary interventions and anxiety that would not otherwise be considered based on the patient's clinical presentation and/or family history. There is not enough research to show that the genetic panels listed in the policy criteria can lead to better health outcomes for patients. When there is not enough research to show that all genes and/or gene variants in a genetic test panel may be useful for guiding patient management to improve health outcomes, the entire genetic test panel is considered investigational.
REFERENCES
1. Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America. 2009;106(45):19096-101. PMID: 19861545
2. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science translational medicine. 2011;3(65):65ra4. PMID: 21228398
3. Foo JN, Liu J, Tan EK. Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Human genetics. 2013;132(7):721-34. PMID: 23525706
4. Lin X, Tang W, Ahmad S, et al. Applications of targeted gene capture and nextgeneration sequencing technologies in studies of human deafness and other genetic disabilities. Hearing research. 2012;288(1-2):67-76. PMID: 22269275
5. den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Human mutation. 2016;37(6):564-9. PMID: 26931183
6. Desmond A, Kurian AW, Gabree M, et al. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol. 2015;1:943-51. PMID: 26270727
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7. Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32:2001-9. PMID: 24733792
8. Mauer CB, Pirzadeh-Miller SM, Robinson LD, et al. The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med. 2014;16:407-12. PMID: 24113346
9. Cheng HH, Klemfuss N, Montgomery B, et al. A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling. The Prostate. 2016;76(14):1303-11. PMID: 27324988
10. Bunnell AE, Garby CA, Pearson EJ, et al. The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. Journal of genetic counseling. 2017;26(1):105-12. PMID: 27276934
11. Yadav S, Reeves A, Campian S, et al. Outcomes of retesting BRCA negative patients using multigene panels. Familial cancer. 2017;16(3):319-28. PMID: 27878467
12. Pritzlaff M, Summerour P, McFarland R, et al. Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast cancer research and treatment. 2017;161(3):575-86. PMID: 28008555
13. Lumish HS, Steinfeld H, Koval C, et al. Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. Journal of genetic counseling. 2017;26(5):1116-29. PMID: 28357778
14. Hermel DJ, McKinnon WC, Wood ME, et al. Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program. Familial cancer. 2017;16(1):159-66. PMID: 27401692
15. Sireci AN, Aggarwal VS, Turk AT, et al. Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center: Identification of Targetable Variants and Experience with Reimbursement. The Journal of molecular diagnostics : JMD. 2017;19(2):277-87. PMID: 28024947
16. Hamblin A, Wordsworth S, Fermont JM, et al. Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service. PLoS Med. 2017;14(2). PMID:
17. Robson ME, Bradbury AR, Arun B, et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol. 2015;33:3660-7. PMID: 26324357
18. National Comprehensive Cancer Network (NCCN). Clinical Practice Guidelines in OncologyTM. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. [cited 8/5/2024]. 'Available from:' https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf.
CODES
NOTE: There are few specific codes for molecular pathology testing by panels. If the specific analyte is listed with a CPT code, the specific CPT code should be reported. If the specific analyte is not listed with a specific CPT code, unlisted code 81479 should be reported. The unlisted code would be reported once to represent all of the unlisted analytes in the panel.
Codes CPT
Number 0008U
Description
Helicobacter pylori detection and antibiotic resistance, DNA, 16S and 23S rRNA, gyrA, pbp1, rdxA and rpoB, next generation sequencing, formalin-fixed paraffin embedded or fresh tissue or fecal sample, predictive, reported as
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Codes
Number 0010U 0029U 0030U 0033U 0050U 0101U
0102U
0103U
0129U 0130U
0131U 0132U 0133U
Description
positive or negative for resistance to clarithromycin, fluoroquinolones, metronidazole, amoxicillin, tetracycline and rifabutin Infectious disease (bacterial), strain typing by whole genome sequencing, phylogenetic-based report of strain relatedness, per submitted isolate Drug metabolism (adverse drug reactions and drug response), targeted sequence analysis (ie, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 and rs12777823) Drug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823) HTR2A (5-hydroxytryptamine receptor 2A), HTR2C (5-hydroxytryptamine receptor 2C) (eg, citalopram metabolism) gene analysis, common variants (ie, HTR2A rs7997012 [c.614-2211T>C], HTR2C rs3813929 [c.-759C>T] and rs1414334 [c.551-3008C>G]) Targeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated [15 genes (sequencing and deletion/duplication), EPCAM and GREM1 (deletion/duplication only)] Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated [17 genes (sequencing and deletion/duplication)] Hereditary ovarian cancer (eg, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated [24 genes (sequencing and deletion/duplication); EPCAM (deletion/duplication only)] Hereditary breast cancerrelated disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis and deletion/duplication analysis panel (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53) Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), targeted mRNA sequence analysis panel (APC, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, and TP53) (List separately in addition to code for primary procedure) (Use 0130U in conjunction with 81435, 0101U) Hereditary breast cancerrelated disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), targeted mRNA sequence analysis panel (13 genes) (List separately in addition to code for primary procedure) (Use 0131U in conjunction with 81162, 81432, 0102U) Hereditary ovarian cancerrelated disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), targeted mRNA sequence analysis panel (17 genes) (List separately in addition to code for primary procedure) (Use 0132U in conjunction with 81162, 81432, 0103U) Hereditary prostate cancerrelated disorders, targeted mRNA sequence analysis panel (11 genes) (List separately in addition to code for primary procedure) (Use 0133U in conjunction with 81162)
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Codes
Number 0134U
0135U
0171U
0173U 0175U 0216U
0217U
0269U 0270U 0272U 0273U
0274U 0276U 0277U 0278U 0347U 0348U
Description
Hereditary pan cancer (eg, hereditary breast and ovarian cancer, hereditary endometrial cancer, hereditary colorectal cancer), targeted mRNA sequence analysis panel (18 genes) (List separately in addition to code for primary procedure) (Use 0134U in conjunction with 81162, 81432, 81435) Hereditary gynecological cancer (eg, hereditary breast and ovarian cancer, hereditary endometrial cancer, hereditary colorectal cancer), targeted mRNA sequence analysis panel (12 genes) (List separately in addition to code for primary procedure) (Use 0135U in conjunction with 81162) Targeted genomic sequence analysis panel, acute myeloid leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms, DNA analysis, 23 genes, interrogation for sequence variants, rearrangements and minimal residual disease, reported as presence/absence Psychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes Psychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes Neurology (inherited ataxias), genomic DNA sequence analysis of 12 common genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variant Neurology (inherited ataxias), genomic DNA sequence analysis of 51 genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants Hematology (autosomal dominant congenital thrombocytopenia), genomic sequence analysis of 22 genes, blood, buccal swab, or amniotic fluid Hematology (congenital coagulation disorders), genomic sequence analysis of 20 genes, blood, buccal swab, or amniotic fluid Hematology (genetic bleeding disorders), genomic sequence analysis of 60 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid, comprehensive Hematology (genetic hyperfibrinolysis, delayed bleeding), analysis of 9 genes (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, SERPINF2, by next generation sequencing and PLAU by array comparative genomic hybridization), blood, buccal swab, or amniotic fluid Hematology (genetic platelet disorders), genomic sequence analysis of 62 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid Hematology (inherited thrombocytopenia), genomic sequence analysis of 42 genes, blood, buccal swab, or amniotic fluid Hematology (genetic platelet function disorder), genomic sequence analysis of 40 genes and duplication/deletion of PLAU, blood, buccal swab, or amniotic fluid Hematology (genetic thrombosis), genomic sequence analysis of 14 genes, blood, buccal swab, or amniotic fluid Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 16 gene report, with variant analysis and reported phenotypes Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 25 gene report, with variant analysis and reported phenotypes
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Codes
Number 0349U 0350U 0460U 0461U 0474U
0475U
0476U
0477U
0516U 81105 81106 81107 81108
Description
Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis, including reported phenotypes and impacted gene-drug interactions Drug metabolism or processing (multiple conditions), whole blood or buccal specimen, DNA analysis, 27 gene report, with variant analysis and reported phenotypes Oncology, whole blood or buccal, DNA single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, with variant analysis and reported phenotypes Oncology, pharmacogenomic analysis of single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, whole blood or buccal swab, with variant analysis, including impacted genedrug interactions and reported phenotypes Hereditary pan-cancer (eg, hereditary sarcomas, hereditary endocrine tumors, hereditary neuroendocrine tumors, hereditary cutaneous melanoma), genomic sequence analysis panel of 88 genes with 20 duplications/deletions using next generation sequencing (NGS), Sanger sequencing, blood or saliva, reported as positive or negative for germline variants, each gene Hereditary prostate cancer related disorders, genomic sequence analysis panel using next-generation sequencing (NGS), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (CGH), evaluation of 23 genes and duplications/deletions when indicated, pathologic mutations reported with a genetic risk score for prostate cancer Drug metabolism, psychiatry (eg, major depressive disorder, general anxiety disorder,attention deficit hyperactivity disorder [ADHD], schizophrenia), whole blood, buccal swab, and pharmacogenomic genotyping of 14 genes and CYP2D6 copy number variant analysis and reported phenotypes Drug metabolism, psychiatry (eg, major depressive disorder, general anxiety disorder,attention deficit hyperactivity disorder [ADHD], schizophrenia), whole blood, buccal swab, and pharmacogenomic genotyping of 14 genes and CYP2D6 copy number variant analysis, including impacted genedrug interactions and reported phenotypes Drug metabolism, whole blood, pharmacogenomic genotyping of 40 genes and CYP2D6 copy number variant analysis, reported as metabolizer status Human platelet antigen 1 genotyping (HPA-1), ITGB3 (integrin, BETA 3 [platelet glycoprotein iiia], antigen CD61 [gpiiia]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, HPA-1a/b (L33P) Human platelet antigen 2 genotyping (hpa-2), GP1BA (glycoprotein ib [platelet], alpha polypeptide [GPIBA]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, 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]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, HPA-3a/b (I843S) Human platelet antigen 4 genotyping (HPA-4), ITGB3 (integrin, BETA 3 [platelet glycoprotein IIIA], antigen CD61 [GPIIIA]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, HPA-4a/b (R143Q)
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Codes
Number 81109
81110
81111
81112
81170
81175
81176 81200 81201 81202 81203 81205
81206 81207 81208 81209 81210 81218 81219 81220 81221 81222 81223 81224 81225
Description
Human platelet antigen 5 genotyping (HPA-5), ITGA2 (integrin, ALPHA 2 [CD49B, ALPHA 2 subunit of VLA-2 receptor] [GPIA]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant (eg, HPA-5a/b (K505E)) Human platelet antigen 6 genotyping (HPA-6W), ITGB3 (integrin, BETA 3 [platelet glycoprotein IIIA, antigen CD61] [GPIIIA]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, 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]) (eg, neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), gene analysis, common variant, HPA-9a/b (V837M) Human platelet antigen 15 genotyping (HPA-15), CD109 (CD109 molecule) (eg, neonatal alloimmune thrombocytopenia [Nait], post-transfusion purpura), gene analysis, common variant, HPA-15a/b (S682Y) ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence
;targeted sequence analysis (eg, EXON 12) ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; full gene sequence
;known familial variants ;duplication/deletion variants BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, Maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative ;minor breakpoint, qualitative or quantitative ;other breakpoint, qualitative or quantitative BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant BRAF (B-Raf proto-oncogene, serine/threonine kinase) (eg, colon cancer, melanoma), gene analysis, V600 variant(s) CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9 CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines) ;known familial variant ;duplication/deletion variants ;full gene sequence ;intron 8 poly-T analysis (eg, male infertility) CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *8, *17)
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Codes
Number 81226
81227 81228
81229
81235
81240 81241 81242 81243
81244
81245 81246 81247 81248 81249 81250
81251 81252 81253 81254
81255 81256 81257
Description
CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *5, *6) Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number variants, comparative genomic hybridization [CGH] microarray analysis Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic hybridization (CGH) microarray analysis EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) FMR1 (Fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, Xlinked intellectual disability [XLID]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles FMR1 (fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, Xlinked intellectual disability [XLID]) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status) FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; internal tandem duplication (ITD) variants (ie, exons 14, 15)
;tyrosine kinase domain (TKD) variants (eg, D835, I836) G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, a, a-)
;known familial variant(s) ;full gene sequence G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, Type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence ;known familial variant GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb [del(GJB6D13S1830)] and 232kb [del(GJB6-D13S1854)]) HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions
GT64 | 28
Codes
Number
81260
81261
81262 81263 81264
81270 81272
81273 81275 81276 81287 81288
81290 81291 81292
81293 81294 81295
81296 81297 81298 81299 81300 81302 81303 81304
Description
or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring) IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) IGH@ (Immunoglobulin heavy chain locus) (eg, leukemias and lymphomas, Bcell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (eg, polymerase chain reaction)
;direct probe methodology (eg, Southern blot) IGH@ (Immunoglobulin heavy chain locus) (eg, leukemia and lymphoma, Bcell), variable region somatic mutation analysis IGK@ (Immunoglobulin kappa light chain locus) (eg, leukemia and lymphoma, B-cell), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant 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) KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, mastocytosis), gene analysis, D816 variant(s) KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; variants in exon 2 (eg, codons 12 and 13) KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; additional variant(s) (eg, codon 61, codon 146) MGMT (O-6-methylguanine-DNA methyltransferase) (eg, glioblastoma multiforme), promoter methylation analysis MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation analysis MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C) MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis
;known familial variants ;duplication/deletion variants MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis ;known familial variants ;duplication/deletion variants MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis ;known familial variants ;duplication/deletion variants MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis ;known familial variants ;duplication/deletion variants
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Codes
Number 81310 81311
81314
81315
81316 81317
81318 81319 81321 81322 81323 81324
81325 81326 81330
81331
81332
81340
81342 81349 81350
81355
81400 81401 81402
Description
NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, exon 12 variants 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) PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18) PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; common breakpoints (eg, intron 3 and intron 6), qualitative or quantitative
;single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary nonpolyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis ;known familial variants ;duplication/deletion variants PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis ;known familial variants ;duplication/deletion variants PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis ;full sequence analysis ;known familial variants SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, NiemannPick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330) SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation analysis SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z) TRB@ (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (eg, polymerase chain reaction) TRG@ (T cell antigen receptor, gamma) (eg, leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37) VKORC1 (vitamin K epoxide reductase complex, subunit 1) (eg, warfarin metabolism), gene analysis, common variant(s) (eg, -1639G>A, c.173+1000C>T) Molecular pathology procedure, Level 1 Molecular pathology procedure, Level 2 Molecular pathology procedure, Level 3
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Codes
Number 81403 81404 81405 81406 81407 81408 81412
81413
81432
81433
81434
81437
81438
81440
81441
Description
Molecular pathology procedure, Level 4 Molecular pathology procedure, Level 5 Molecular pathology procedure, Level 6 Molecular pathology procedure, Level 7 Molecular pathology procedure, Level 8 Molecular pathology procedure, Level 9 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 Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A 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 10 genes, always including BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53 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 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 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 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 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 Inherited bone marrow failure syndromes (IBMFS) (eg, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, GATA2 deficiency syndrome, congenital amegakaryocytic thrombocytopenia) sequence analysis panel, must include sequencing of at least 30 genes, including BRCA2, BRIP1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GATA1, GATA2, MPL, NHP2, NOP10, PALB2, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SBDS, TERT, and TINF2
GT64 | 31
Codes HCPCS
Number 81443
81450 81451 81455 81456 81460
81465 81470 81471 81479 81599 None
Description
Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH) Hematolymphoid neoplasm or disorder, genomic sequence analysis panel, 5-50 genes, interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis Hematolymphoid neoplasm or disorder, genomic sequence analysis panel, 5-50 genes, interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; RNA analysis Solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes, genomic sequence analysis panel, interrogation for sequence variants and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis Solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes, genomic sequence analysis panel, interrogation for sequence variants and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; RNA analysis 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 Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed 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
;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 Unlisted molecular pathology procedure Unlisted multianalyte assay with algorithmic analysis
Date of Origin: October 2013
GT64 | 32
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