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    v1.0.31
    OpenPayerPolicy UpdatesGenetic & Molecular TestingRegence Genetic Panel Coverage Update | OpenPayer
    Ask Trek AI about this page

    OpenPayer is powered by Trek Health's payer performance platform. Trek continuously ingests, validates, and normalizes Transparency in Coverage data alongside payer policies and other commercial payer data to create a structured payer intelligence foundation. OpenPayer uses this foundation to deliver personalized search results, dynamically generated policy pages, and tailored policy monitoring based on each user's payers, specialties, billing codes, and areas of interest. The same intelligence powers broader payer performance workflows, including reimbursement benchmarking, contract evaluation, payer negotiations, and financial decision-making.

    ModifiedRegencePolicy N/A

    Evaluating the Utility of Genetic Panels

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    This policy governs evaluation of the clinical utility of genetic panel tests, including panels used for hereditary cancer risk assessment, pharmacogenetics, and diagnosis of congenital disorders. It applies to providers requesting coverage for genetic panel testing under applicable contract terms.

    Policy Summary
    PayerRegence
    PolicyEvaluating the Utility of Genetic Panels
    Policy CodePolicy N/A
    Change TypeModified
    Effective DateOctober 1, 2026
    Last ReviewSep 1, 2026
    Next Review DateJuly 1, 2027
    Key ActionSubmit genetic test or panel requests for review with sufficient information to determine clinical utility, including the test, laboratory, genes or variants, billing information, and relevant clinical records.
    SourceLink
    POLICY UPDATE CHANGES

    Code 0029U for targeted drug-metabolism sequence analysis is identified as deleted effective 07/01/2026.

    Code 0033U for HTR2A and HTR2C common-variant analysis is identified as deleted effective 01/01/2026.

    Code 0033U is identified as deleted effective 01/01/2026.

    Code 0033U is identified as deleted effective January 1, 2026.

    Code 0033U for HTR2A and HTR2C common-variant gene analysis is identified as deleted effective 01/01/2026.

    Code 0033U is identified as deleted effective January 1, 2026.

    The HTR2A and HTR2C common-variant gene analysis code description is identified as deleted effective January 1, 2026.

    Code 0033U for HTR2A and HTR2C pharmacogenomic variants is identified as deleted effective 01/01/2026.

    Several genetic testing codes are marked deleted effective January 1, 2026.

    2Codes identified as deleted with effective dates
    Pre- and posttestGenetic counseling recommendation
    2Required clinical-utility outcomes
    3Indication categories addressed

    Coverage Criteria

    Investigational Genetic Panels

    A genetic panel is considered investigational when its clinical utility has not been demonstrated for the panel as a whole.

    ALL of the following

    • There is insufficient research demonstrating that each gene and/or gene variant included in the panel can be used to guide treatment, management, or prevention decisions in the clinical setting.
    • There is insufficient research demonstrating that decisions guided by results from the comprehensive panel improve net health outcomes.
    • The panel includes genes or variants for which clinical significance, risk-management recommendations, or clinically actionable outcomes are not adequately established.

    Clinical Utility Evidence Framework

    Clinical utility evidence must demonstrate that the panel provides clinically meaningful information that changes care and improves outcomes.

    Policy Summary
    PayerRegence
    PolicyEvaluating the Utility of Genetic Panels
    Policy CodePolicy N/A
    Change TypeModified
    Effective DateOctober 1, 2026
    Last ReviewSep 1, 2026
    Next Review DateJuly 1, 2027
    Key ActionSubmit genetic test or panel requests for review with sufficient information to determine clinical utility, including the test, laboratory, genes or variants, billing information, and relevant clinical records.
    SourceLink
    On This Page
    Coverage CriteriaCoding and Billing InformationProvider Submission and Counseling RequirementsBackgroundDefinitionsCovered Genetic Panel IndicationsEligibility RequirementsNot Covered Services

    ALL of the following evidence requirements

    • Evidence is derived from well-designed controlled trials or large cohort studies evaluating the specific comprehensive genetic panel.
    • The panel results guide decisions in the clinical setting related to treatment, patient management, or prevention.
    • The clinical decisions made as a result of the panel improve health outcomes.
    • For positive results, evidence demonstrates benefit through interventions that reduce disease risk, enable earlier or more intensive screening and treatment, or improve quality of life.
    • For negative results, evidence demonstrates benefit by avoiding unnecessary intensive monitoring, invasive tests or procedures, or ineffective therapies.

    Clinical Utility of Genetic Panels

    Clinical utility is evaluated for the complete panel, including the effects of findings that may not be indicated by the patient's clinical presentation or family history.

    ALL of the following must be demonstrated

    • Clinical utility is established for all genes and/or gene variants included in the panel, rather than only for selected components.
    • The results of the comprehensive panel guide treatment, management, or prevention decisions and improve health outcomes.
    • For broad panels, the impact of results from non-indicated genes or variants is well-defined and does not lead to unnecessary interventions, invasive procedures, ineffective therapies, or clinically significant anxiety or other harm.
    • The evidence adequately addresses variants of uncertain significance and other findings of unclear clinical significance, recognizing that most genetic changes have unknown effects on human health.
    • The panel provides clinically actionable information beyond what would be determined from the patient's clinical presentation, family history, and other established risk factors.

    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, the entire genetic panel test is considered investigational, including any optional add-on genes or components.

    Medical policies provide guidance regarding coverage in accordance with contract terms. Benefit determinations are based on the applicable contract language, and contract language takes precedence if it conflicts with the medical policy.

    Contracts exclude from coverage, among other things, services or procedures considered investigational or cosmetic. Providers may bill members for services or procedures considered investigational or cosmetic and are encouraged to inform members before rendering such services that they are likely to be financially responsible for the cost.

    For broad genetic panels, some components may be indicated based on the patient's clinical presentation or family history while other components may not be indicated. The impact of results from non-indicated variants must be well-defined and must account for the possibility that the information could cause harm by prompting additional unnecessary interventions that would not otherwise be considered.

    Panels may identify variants of uncertain significance, mosaicism, or other findings of unclear clinical significance. Such findings must not be assumed to have clinical utility or lead to changes in management without adequate evidence.

    Polygenic risk scores have significant limitations in interpretation and should not be used for clinical management at this time. Their use is recommended only in the context of a clinical trial, ideally one that includes diverse populations.

    Coding and Billing Information

    Genetic panel catalog associated billing codesHCPCS
    GT02Associated code listed for selected hereditary breast, breast and gynecologic cancer, and breast/GYN cancer panels.
    GT10Associated code listed for selected pharmacogenomics and personalized medication panels.
    GT17Associated code listed for ProstateNext +RNAinsight.
    GT44Associated code listed for UNITY Complete.
    GT53Associated code listed for selected pharmacogenomics and psychiatric health pharmacogenomics panels, including Tempus nP.
    GT59Associated code listed for MyAML 194 Targeted NGS Gene Panel.
    GT81Associated code listed for selected broad genetic, pharmacogenomics, and disease panels, including Labcorp PLUS, NxGen Super, and Qherit panels.
    Unlisted molecular pathology panel codeCPT
    81479Unlisted code; report once to represent all unlisted analytes in a panel when the specific analyte is not listed with a specific CPT code.
    CPT Proprietary Laboratory Analyses codes listed in the documentCPT
    0008UHelicobacter 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 positive or negative for resistance to clarithromycin, fluoroquinolones, metronidazole, amoxicillin, tetracycline and rifabutin.
    0010UInfectious disease (bacterial), strain typing by whole genome sequencing, phylogenetic-based report of strain relatedness, per submitted isolate.
    0029UDrug metabolism (adverse drug reactions and drug response), targeted sequence analysis (ie, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 and rs12777823).
    0030UDrug metabolism (warfarin drug response), targeted sequence analysis; the remainder of the description is not displayed in this document window.
    Genetic and molecular testing codesCPT
    0010UInfectious disease (bacterial), strain typing by whole genome sequencing, phylogenetic-based report of strain relatedness, per submitted isolate.
    0029UDrug metabolism (adverse drug reactions and drug response), targeted sequence analysis (ie, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 and rs12777823) (Deleted 07/01/2026).
    0030UDrug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823).
    0033UHTR2A and HTR2C common-variant gene analysis, including HTR2A rs7997012, HTR2C rs3813929, and rs1414334 (Deleted 01/01/2026).
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements.
    0101UHereditary colon cancer disorders genomic sequence analysis panel using NGS, Sanger, MLPA and array CGH, with mRNA analytics to resolve variants of unknown significance.
    Listed Genetic and Molecular Laboratory CodesHCPCS
    0030UDrug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823).
    0033UHTR2A and HTR2C common-variant gene analysis (Deleted 01/01/2026).
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements.
    0101UHereditary colon cancer disorders panel; 15 genes by sequencing and deletion/duplication, with EPCAM and GREM1 deletion/duplication only.
    0102UHereditary breast cancer-related disorders panel; 17 genes by sequencing and deletion/duplication.
    Genetic and molecular testing codesCPT
    0030UDrug metabolism (warfarin drug response), targeted sequence analysis.
    0033UHTR2A and HTR2C common-variant gene analysis (Deleted 01/01/2026).
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes.
    0101UHereditary colon cancer disorders panel; 15 genes plus EPCAM and GREM1 deletion/duplication analysis.
    0102UHereditary breast cancer-related disorders panel; 17 genes with sequencing and deletion/duplication.
    Genetic and molecular testing codes listedHCPCS
    0030UCYP2C9, CYP4F2, VKORC1, rs12777823.
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements.
    0101UHereditary colon cancer disorders panel; 15 genes by sequencing and deletion/duplication, with EPCAM and GREM1 deletion/duplication only.
    0102UHereditary breast cancer-related disorders panel; 17 genes by sequencing and deletion/duplication.
    0103UHereditary ovarian cancer genomic panel.
    Deleted genetic testing codeHCPCSNot Covered
    0033UHTR2A and HTR2C common-variant gene analysis, including HTR2A rs7997012, HTR2C rs3813929, and rs1414334 (Deleted 01/01/2026).
    Pharmacogenomic testing codesHCPCS
    0030UCYP2C9, CYP4F2, VKORC1, rs12777823.
    0033UHTR2A and HTR2C common-variant gene analysis, including HTR2A rs7997012, HTR2C rs3813929, and rs1414334 (Deleted 01/01/2026).
    Acute myelogenous leukemia genomic panelHCPCS
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements.
    Hereditary colon cancer genomic panelHCPCS
    0101UHereditary colon cancer disorders panel using NGS, Sanger, MLPA and array CGH, with mRNA analytics; 15 genes plus EPCAM and GREM1 deletion/duplication analysis.
    Hereditary breast cancer-related genomic panelHCPCS
    0102UHereditary breast cancer-related disorders panel using NGS, Sanger, MLPA and array CGH, with mRNA analytics; 17 genes with sequencing and deletion/duplication.
    Hereditary ovarian cancer genomic panelHCPCS
    0103UHereditary ovarian cancer genomic panel.
    Deleted codeHCPCSNot Covered
    0033UHTR2A and HTR2C common-variant gene analysis, including HTR2A rs7997012, HTR2C rs3813929, and rs1414334 (Deleted 01/01/2026).
    Genetic and molecular testing codesHCPCS
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes.
    0101UHereditary colon cancer disorders panel; 15 genes plus EPCAM and GREM1 deletion/duplication analysis.
    0102UHereditary breast cancer-related disorders panel; 17 genes with sequencing and deletion/duplication.
    0103UHereditary ovarian cancer genomic panel.
    0030UPharmacogenomic analysis involving CYP2C9, CYP4F2, VKORC1, and rs12777823.
    CodesHCPCS
    0030UCYP2C9, CYP4F2, VKORC1, rs12777823.
    0033UHTR2A and HTR2C common-variant gene analysis (Deleted 01/01/2026).
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes.
    0101UHereditary colon cancer disorders panel; 15 genes plus EPCAM and GREM1 deletion/duplication analysis.
    0102UHereditary breast cancer-related disorders panel; 17 genes with sequencing and deletion/duplication.
    0103UHereditary ovarian cancer genomic sequence analysis panel.
    Pharmacogenomic testing codesHCPCS
    0030UCYP2C9, CYP4F2, VKORC1, rs12777823.
    0033UHTR2A and HTR2C pharmacogenomic variant analysis, including rs7997012, rs3813929, and rs1414334 (Deleted 01/01/2026).
    Acute myelogenous leukemia genomic panelHCPCS
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes, interrogation for sequence variants, copy number variants or rearrangements.
    Hereditary cancer genomic panel codesHCPCS
    0101UHereditary colon cancer disorders panel; 15 genes plus EPCAM and GREM1 deletion/duplication analysis.
    0102UHereditary breast cancer-related disorders panel; 17 genes with sequencing and deletion/duplication.
    0103UHereditary ovarian cancer-related disorders panel; 24 genes.
    Genomic sequencing and hereditary cancer panel codesHCPCS
    0033UHTR2A and HTR2C analysis, including rs7997012, rs3813929, and rs1414334; deleted 01/01/2026.
    0050UTargeted genomic sequence analysis panel, acute myelogenous leukemia, DNA analysis, 194 genes.
    0101UHereditary colon cancer disorders genomic sequence analysis panel; 15 genes plus EPCAM and GREM1 deletion/duplication.
    0102UHereditary breast cancer-related genomic sequence analysis panel; 17 genes with sequencing and deletion/duplication.
    0103UHereditary ovarian cancer-related disorders genomic sequence analysis panel; 24 genes.
    Hereditary colon and breast cancer targeted mRNA panel codesHCPCS
    0130UHereditary colon cancer disorders targeted mRNA sequence analysis panel involving APC, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, and TP53; used with 81435 and 0101U.
    0131UHereditary breast, ovarian, and endometrial cancer-related targeted mRNA sequence analysis panel, 13 genes; used with 81162, 81432, and 0102U; deleted 01/01/2026.
    Hereditary ovarian, prostate, pan-cancer, and companion procedure codesmixed
    0132UHereditary ovarian cancer-related targeted mRNA sequence analysis panel, 17 genes; used with 81162, 81432, and 0103U; deleted 01/01/2026.
    0133UHereditary prostate cancer-related targeted mRNA sequence analysis panel, 11 genes; used with 81162.
    0134UHereditary pan-cancer targeted mRNA sequence analysis panel, 18 genes; used with 81162, 81432, and 81435.
    81162Primary procedure code referenced for hereditary breast/ovarian, prostate, and pan-cancer targeted mRNA panel services.
    81432Primary procedure code referenced with hereditary breast cancer-related targeted mRNA panel services.
    81435Primary procedure code referenced with hereditary colon and pan-cancer targeted mRNA panel services.
    Hereditary cancer targeted mRNA panelsHCPCS
    0132UHereditary gynecological cancer targeted mRNA sequence analysis panel, 12 genes; use with 81162, 81432, and 0103U; deleted 01/01/2026.
    0133UHereditary prostate cancer-related disorders targeted mRNA sequence analysis panel, 11 genes; use with 81162.
    0134UHereditary pan-cancer targeted mRNA sequence analysis panel, 18 genes; use with 81162, 81432, and 81435.
    0135UHereditary gynecological cancer targeted mRNA sequence analysis panel, 12 genes; use with 81162.
    Hematologic malignancy and psychiatric genomic panelsHCPCS
    0171UTargeted 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.
    0173UPsychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes.
    0175UPsychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes.
    Inherited ataxia genomic panelHCPCS
    0216UNeurology (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.
    Referenced primary procedure codesCPT
    81162Referenced as a primary procedure code for use with codes 0132U, 0133U, 0134U, and 0135U.
    81432Referenced as a primary procedure code for use with codes 0132U and 0134U.
    81435Referenced as a primary procedure code for use with code 0134U.
    0103UReferenced as a primary procedure code for use with code 0132U.
    Genomic and molecular testing codesHCPCS
    0135UHereditary gynecological cancer targeted mRNA sequence analysis panel, 12 genes; use with 81162.
    0171UTargeted 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.
    0173UPsychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes.
    0175UPsychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes.
    0216UNeurology (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.
    0217UNeurology (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.
    Molecular pathology and genomic testing codesCPT
    0171UTargeted genomic sequence analysis panel for acute myeloid leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms; residual disease reported as presence/absence.
    0173UPsychiatry (ie, depression, anxiety), genomic analysis panel, includes variant analysis of 14 genes.
    0175UPsychiatry (eg, depression, anxiety), genomic analysis panel, variant analysis of 15 genes.
    0216UNeurology (inherited ataxias), genomic DNA sequence analysis of 12 common genes.
    0217UNeurology (inherited ataxias), genomic DNA sequence analysis of 51 genes.
    0269UHematology (autosomal dominant congenital thrombocytopenia), genomic sequence analysis of 22 genes.
    0270UHematology (congenital coagulation disorders), genomic sequence analysis.

    Provider Submission and Counseling Requirements

    Documentation Required

    Submit Genetic-Test Utility Information

    Submit the following information for review so Regence can evaluate the clinical utility of the genetic test or panel:

    • Name of the genetic test or panel test
    • Name of the performing laboratory and/or genetic testing organization; more than one may be listed
    • Exact gene(s) and/or variant(s) being tested
    • Relevant billing codes
    • Brief description of how the results will guide clinical decisions that would not otherwise be made without testing
    Documentation Required

    Submit Supporting Clinical Documentation

    Submit clinical documentation supporting the applicable policy criteria and explaining the medical necessity of the requested genetic test or panel. Coverage determinations are also subject to the member’s contract, which takes precedence over the medical policy.

    • Include relevant history and physical examination findings, conventional testing and outcomes, and conservative treatment provided when available
    Documentation Required

    Required Clinical-Utility Documentation

    The required clinical-utility documentation includes medical records related to the genetic test, if available, in addition to the test and clinical-decision information submitted for panel review.

    • History and physical examination
    • Conventional testing and outcomes
    • Conservative treatment provided
    Denial Risk

    Insufficient Evidence of Clinical Utility

    When research is insufficient to show that a gene or gene variant in a panel can guide treatment decisions and improve net health outcomes, the entire genetic panel is considered investigational. Investigational services may be excluded under the member’s contract, and providers should inform members before rendering services when they are likely to be financially responsible.

    • This designation may apply with or without optional add-on genes or components
    Denial Risk

    Every Included Gene or Variant Must Demonstrate Utility

    All genes and/or gene variants included in a genetic test panel must demonstrate clinical utility for guiding patient management and improving health outcomes. If the evidence is insufficient for any included genes or variants, the entire panel may be considered investigational.

    Note

    Polygenic Risk Scores

    Polygenic risk scores have significant interpretation limitations and should not be used for clinical management at this time.

    • Use is recommended only in the context of a clinical trial, ideally including diverse populations
    Note

    Recommend Pretest and Posttest Genetic Counseling

    Providers should recommend genetic counseling before testing and after results are available to support informed decision-making, appropriate interpretation, and discussion of potential implications for the patient and family.

    Denial Risk

    Use Focused Multigene Panels

    Avoid ordering multigene panels that include genes of uncertain clinical utility or genes unrelated to the patient’s personal or family history. Unfocused testing may identify variants that do not change management and can lead to unnecessary interventions or anxiety.

    Background

    Genetic panel tests evaluate multiple genes or genomic regions simultaneously and may be used for applications such as hereditary cancer risk assessment, pharmacogenetics, and diagnosis of congenital disorders. Because panels can include genes with uncertain or unestablished clinical utility, review focuses on whether the comprehensive panel can guide treatment, management, or prevention decisions and improve health outcomes.

    Definitions

    Investigational genetic panel test
    DefinitionA genetic panel test for which available research is insufficient to demonstrate that one or more included genes or gene variants can be used to manage treatment decisions and improve net health outcomes.
    Evidence requirementAvailable research must show that the included gene or gene variant may be used to manage treatment decisions and improve net health outcomes.
    Coverage consequenceWhen this evidence is lacking, the entire genetic panel test is considered investigational, including optional add-on genes or components.
    Variant
    DefinitionA change in a DNA or protein sequence.
    HGVS terminologyThe term variant is used under Human Genome Variation Society nomenclature to describe the change.
    Terminology replacedVariant replaces previously used terms such as mutation.
    Pathogenic variant
    DefinitionA variant associated with disease.
    Sequence contextA pathogenic variant is a change in a DNA or protein sequence.
    Classification contextPathogenic is one of the variant classifications used in Human Genome Variation Society nomenclature-based evidence review.
    Benign variant
    DefinitionA variant not associated with disease.
    Sequence contextA benign variant is a change in a DNA or protein sequence.
    Classification contextBenign is a variant classification used in Human Genome Variation Society nomenclature-based evidence review.
    Variant of uncertain significance
    DefinitionA genetic change whose effect on human health is unknown or clinically uncertain.
    Sequence contextA variant of uncertain significance is a change in a DNA or protein sequence.
    Evidence contextThe majority of genetic changes have unknown effects on human health and are referred to as variants of uncertain significance.
    Clinical utility
    DefinitionThe likelihood that genetic panel testing will improve health outcomes.
    Positive-result utilityBenefits may include interventions that reduce disease risk, earlier or more intensive screening, or interventions that improve quality of life.
    Negative-result utilityNegative results may prevent unnecessary intensive monitoring, invasive tests or procedures, or ineffective therapies.
    Human Genome Variation Society nomenclature
    DefinitionAn international standard used to describe variants found in DNA.
    ImplementationThe nomenclature is used for genetic testing medical evidence review updates.
    TerminologyUnder HGVS nomenclature, variant replaces previously used terms such as mutation.
    Variant
    DefinitionA DNA or protein sequence change.
    Preferred termVariant is the term used to describe the sequence change.
    Older terminologyThe term replaces previously used terms such as mutation.
    Pathogenic variant
    DefinitionA variant associated with disease.
    Variant basisThe term applies to a DNA or protein sequence change classified as associated with disease.
    Nomenclature contextPathogenic variant is the policy’s disease-associated variant classification under Human Genome Variation Society nomenclature.
    Variant of uncertain significance
    DefinitionA genetic change whose effect on human health is unknown.
    Clinical interpretationIts effect on human health has not been established.
    Nomenclature contextVariant of uncertain significance is the term used for genetic changes with unknown effects on human health.
    Clinical utility
    DefinitionThe likelihood that a genetic panel will result in improved health outcomes.
    Decision relevanceClinical utility is assessed by whether panel results guide decisions related to treatment, management, or prevention.
    Outcome requirementThe resulting clinical decisions must improve health outcomes.
    Acute myelogenous leukemia genomic panel
    DefinitionA targeted genomic sequence analysis panel for acute myelogenous leukemia.
    Gene scopeThe panel analyzes DNA across 194 genes.
    Interrogated findingsThe panel interrogates sequence variants, copy number variants, or rearrangements.
    Targeted mRNA sequence analysis panel
    DefinitionA targeted mRNA sequence analysis panel used in addition to a primary hereditary cancer testing procedure.
    Hereditary colon cancer useThe colon cancer panel analyzes APC, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, and TP53 and is used with codes 81435 and 0101U.
    Hereditary breast cancer useThe hereditary breast, ovarian, and endometrial cancer panel is a 13-gene panel used with codes 81162, 81432, and 0102U; code 0131U is marked deleted effective 01/01/2026.

    Covered Genetic Panel Indications

    Phenotype-Directed Multigene Testing

    Phenotype-directed multigene testing may be medically necessary when the personal or family history indicates that more than one inherited cancer syndrome could explain the presentation, or when inherited susceptibility remains suspected after prior testing.

    One of the following clinical circumstances

    • Multiple possible inherited cancer syndromes: The individual's personal and/or family history suggests more than one inherited cancer syndrome, such that evaluation of multiple high-penetrance genes of established clinical utility may explain the cancer history.

      Testing should be tailored to the personal and family history and to genes of established clinical utility suggested by that history.

    • Persistent suspicion after negative testing: The individual has tested negative for a single syndrome, but the personal and/or family history remains suggestive of inherited susceptibility.

    Hereditary Colon Cancer Disorders

    Testing is medically necessary for evaluation of the specified hereditary colon cancer disorders when the panel includes the indicated hereditary cancer genes and analytic methods.

    Hereditary colon cancer disorder panel

    • Disorder under evaluation

      • Lynch syndrome is under evaluation.
      • PTEN hamartoma syndrome is under evaluation.
      • Cowden syndrome is under evaluation.
      • Familial adenomatous polyposis is under evaluation.
    • Panel scope: The panel includes 15 genes evaluated by sequencing and deletion/duplication analysis, with EPCAM and GREM1 evaluated by deletion/duplication analysis only.
    • Panel methods:

    Hereditary Breast Cancer-Related Disorders

    Testing is medically necessary for evaluation of hereditary breast, ovarian, and endometrial cancer when the specified multigene panel is used.

    Hereditary breast cancer-related disorder panel

    • Disorder under evaluation

      • Hereditary breast cancer is under evaluation.
      • Hereditary ovarian cancer is under evaluation.
      • Hereditary endometrial cancer is under evaluation.
    • Panel scope: The panel includes 17 genes evaluated by sequencing and deletion/duplication analysis.

    Acute Myelogenous Leukemia

    Testing is medically necessary for acute myelogenous leukemia using the specified targeted genomic sequencing panel.

    Acute myelogenous leukemia panel

    • The individual is being evaluated for acute myelogenous leukemia.
    • Panel scope: The targeted genomic sequence analysis panel analyzes DNA across 194 genes.
    • Alterations assessed: The panel interrogates for sequence variants, copy number variants, or rearrangements.

    Eligibility Requirements

    For broad panels, the patient's clinical presentation and/or family history should define which panel components are indicated. The effect of findings from non-indicated variants must be addressed, particularly the potential for uncertain findings to prompt unnecessary interventions. Testing should be guided by the individual's personal and family history, and a multigene panel may be considered after a negative single-syndrome test when the history remains suggestive of inherited susceptibility.

    When available, submit results from conventional testing, the outcomes of that testing, and information about conservative treatment provided as part of the clinical-utility review. Prior negative single-gene or syndrome testing does not by itself establish clinical utility or coverage for a multigene panel.

    Not Covered Services

    Genetic panel tests are not covered when available research is insufficient to demonstrate that the included genes or variants can be used to manage treatment decisions and improve net health outcomes. Such panels are considered investigational, including panels with optional add-on genes or components.

    Investigational or cosmetic genetic testing services are excluded from coverage under contract terms. Providers may bill members for services that are excluded on this basis and should advise members of potential financial responsibility before testing.

    A panel is not covered when evidence is insufficient to show that all included genes or variants can guide treatment, management, or prevention decisions and improve health outcomes. The review must address the clinical utility of the comprehensive panel rather than only selected components.

    Coverage is not provided when the evidence does not demonstrate that each gene or variant included in the panel contributes to decisions related to treatment, management, or prevention and produces improved health outcomes.

    Broad panels are not covered when the clinical utility of the full set of included genes or variants has not been established, including when results may create uncertainty or lead to interventions that are not supported by the patient's clinical presentation or family history.

    Panels lacking evidence that their included genes or variants can guide patient management and improve outcomes are considered investigational and are not covered. Evidence must support the utility of the comprehensive panel, not merely one or more individual findings.

    A genetic test panel is considered investigational when research is insufficient to show that all genes or gene variants in the panel are useful for guiding patient management and improving health outcomes. Such panels are not covered.

    The HTR2A/HTR2C pharmacogenomic service represented by code 0033U, including analysis of common variants such as HTR2A rs7997012, HTR2C rs3813929, and rs1414334, is identified as deleted effective 01/01/2026.

    The genomic sequence analysis panel uses a combination of next-generation sequencing, Sanger sequencing, MLPA, and array CGH, with mRNA analytics to resolve variants of unknown significance when indicated.
    Panel methods:
    The genomic sequence analysis panel uses a combination of next-generation sequencing, Sanger sequencing, MLPA, and array CGH, with mRNA analytics to resolve variants of unknown significance when indicated.