UnitedHealthcare genetic testing coverage update

Coverage Criteria for Genetic & Molecular Testing

inv-01: Inherited Arrhythmias — Covered when ANY of the following inherited arrhythmia-related conditions are present

Covered when ANY of the following inherited arrhythmia-related conditions are present:

Inherited arrhythmias covered indications: Multi-gene panel testing is proven and medically necessary for individuals with a confirmed or suspected diagnosis of any of the following: Brugada syndrome (BrS); catecholaminergic polymorphic ventricular tachycardia (CPVT); prolonged QTc (>460 ms) on exercise or ambulatory ECG/Holter or during pharmacologic provocation testing; familial long QT syndrome (LQTS) when acquired causes have been ruled out and ECG/Schwartz criteria met; profound congenital bilateral sensorineural hearing loss with prolonged QTc; short QT syndrome (SQTS).

See Schwartz score and ECG criteria in definitions and guidance sections.

inv-02: Inherited Cardiomyopathies and Thoracic Aortic Disease — Covered when ALL of the following cardiomyopathy/thoracic aortic disease conditions are met

Covered when ALL of the following cardiomyopathy/thoracic aortic disease conditions are met:

Inherited cardiomyopathies covered indications: Multi-gene panel testing is proven and medically necessary for individuals with a confirmed or suspected diagnosis of hereditary cardiomyopathies including arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/ARVD), dilated cardiomyopathy (DCM) without an identifiable cause (when specified criteria such as premature sudden cardiac death in a first- or second-degree relative ≤45 years are met), hypertrophic cardiomyopathy (HCM) without an identifiable cause, and left ventricular noncompaction cardiomyopathy (LVNC). Panel testing for thoracic aortic disease (HTAD) is also proven and medically necessary when clinical criteria are met.

Do not perform testing for indications outside these specified conditions; see exclusions for CAD-related and other unproven uses.

inv-03: LQTS — Indication for testing — ALL conditions per expert consensus

Molecular genetic testing is recommended when ALL of the following are met for LQTS (per expert consensus):

LQTS index case testing: Index patient has a high-probability clinical diagnosis of LQTS (Schwartz Score ≥ 3.5) based on clinical history, family history, and ECG characteristics (baseline, Holter, exercise testing) AND testing is targeted to definitive disease-associated genes (KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3).Schwartz Score ≥ 3.5

Variant-specific testing recommended for relatives after identification of a pathogenic/likely pathogenic variant.

inv-04: CPVT — Indication for testing — ANY diagnostic thresholds per expert consensus

Molecular genetic testing is recommended when ANY of the following diagnostic thresholds are met for CPVT (per expert consensus):

CPVT definitive criteria: Patient satisfies diagnostic criteria for CPVT (e.g., Class 1 clinical diagnosis or CPVT diagnostic score ≥ 3.5) and testing is performed for established CPVT genes (RYR2, CASQ2, CALM1-3, TRDN, TECRL).CPVT diagnostic score ≥ 3.5

Predictive testing in related children is recommended from birth onward; variant-specific testing for relatives after variant identification.

CPVT modest phenotype: Patient has a modest CPVT phenotype (diagnostic score ≥2 but <3.5): testing of established CPVT genes may be considered.2 ≤ score < 3.5

If established genes are negative, consider testing for phenocopy genes (KCNJ2, SCN5A, PKP2).

inv-05: Brugada syndrome — Indication for testing — ALL criteria

Genetic testing is recommended for Brugada syndrome when ALL of the following are met:

Brugada syndrome index testing: Index case has Brugada syndrome with a spontaneous or provoked (sodium‑channel blockade) type 1 ECG in standard or high precordial leads together with supporting clinical features or family history; sequencing of SCN5A is recommended.type 1 ECG (spontaneous or provoked)

Variant-specific predictive testing recommended for relatives after identification of a causative variant; do not routinely report variants from genes with disputed/refuted validity.

inv-06: SQTS — Indication for testing — ALL criteria

Genetic testing is recommended for SQTS when the following are met:

SQTS definitive testing: Patient satisfies diagnostic criteria for Short QT Syndrome (Class 1 clinical diagnosis or SQTS diagnostic score ≥ 4) and testing is performed for definitive genes (KCNH2, KCNQ1).SQTS diagnostic score ≥ 4

KCNJ2 and SLC4A3 may be tested in high-probability cases; predictive testing in children may be considered in specific settings.

inv-07: Inherited atrial fibrillation — Indication for testing (familial/early-onset AF)

For inherited atrial fibrillation (familial/early-onset AF):

Inherited AF testing: Index patients with familial or early-onset AF (typically age <60) may undergo analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants when the diagnosis is established by clinical history, family history, and ECG characteristics; predictive or variant-specific testing may be considered for relatives in select situations.age < 60 or established familial AF

Clinical utility is limited and testing should be phenotype-driven; searching for common AF-associated variants for routine risk prediction is not recommended.

inv-08: Short QT Syndrome (SQTS) — Covered when ALL of the following are met

Covered when ALL of the following are met

SQTS index testing: Index molecular genetic testing for SQTS is recommended for definitive disease-associated genes (KCNH2, KCNQ1) when the patient meets diagnostic criteria for SQTS (Class 1 diagnosis or diagnostic score ≥4).diagnostic criteria met

Testing of KCNJ2 and SLC4A3 may be performed when cardiologist judges high probability (diagnostic score 2–4); predictive testing for relatives per standard guidance.

SQTS familial testing: Variant-specific predictive testing is recommended for family members after identification of a pathogenic/likely pathogenic variant in the proband.pathogenic/likely pathogenic variant in proband

Predictive testing in related children may be considered in specific settings.

inv-09: Inherited Atrial Fibrillation (Familial AF) — Covered when ALL of the following are met

Covered when ALL of the following are met

Familial AF index testing: Analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants may be performed in index patients with established familial AF (young/onset age ≤60) when diagnosis is supported by clinical history, family history, and ECG findings.familial AF diagnosis

Testing should be phenotype-driven; routine testing for common AF-associated variants for general risk prediction is not recommended.

Familial AF cascade testing: Variant-specific testing may be recommended for family members after identification of a causative pathogenic/likely pathogenic variant in the proband.pathogenic/likely pathogenic variant in proband

Predictive testing in related children may be considered in specific settings.

inv-10: Hypertrophic Cardiomyopathy (HCM) — Covered when ALL of the following are met

Covered when ALL of the following are met

HCM index testing: Genetic testing should be offered to individuals meeting clinical diagnostic criteria for hypertrophic cardiomyopathy (LV wall thickness ≥13–15 mm not explained by other causes).clinical diagnosis of HCM

Initial testing should include genes with definitive/strong evidence (e.g., MYH7, MYBPC3); serial re-evaluation of VUS and genetic counseling recommended; cascade testing offered if proband has pathogenic/likely pathogenic variant.

HCM genes of interest: Testing focuses on sarcomere genes with MYH7 and MYBPC3 accounting for the majority of molecular diagnoses; expanded NGS panels capture additional relevant genes.genes included in panel

Pediatric detection rates are higher; NGS increases VUS frequency.

HCM cascade testing: Cascade genetic testing should be offered to relatives if a pathogenic/likely pathogenic variant is identified in the proband.

inv-11: Arrhythmogenic Cardiomyopathy (ACM / ARVC / ALVC) — Covered when ALL of the following are met

Covered when ALL of the following are met

ACM index testing: Genetic testing is appropriate for confirmatory testing of index cases with phenotypic features of arrhythmogenic cardiomyopathy (ACM) to facilitate diagnosis and to enable cascade screening of families; identification of a pathogenic/likely pathogenic variant can be a major diagnostic criterion (particularly for ALVC).clinical suspicion/diagnostic criteria met

Variant-specific testing recommended for relatives after variant identification.

ACM genes of interest: First-tier genes commonly include PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, FLNC, DES, LMNA and others; many cases remain genetically unexplained.gene included in panel

Genetic results can inform risk stratification and management (e.g., ICD consideration).

inv-12: Dilated Cardiomyopathy (DCM) — Covered when ALL of the following are met

Covered when ALL of the following are met

DCM index testing: Genetic testing is recommended for probands with a clinical diagnosis of dilated cardiomyopathy (DCM); testing is indicated for probands and considered a class recommendation for cardiomyopathies and channelopathies. Testing may be considered even without known family history due to incomplete penetrance and de novo variants.clinical diagnosis of DCM

Truncating TTN variants account for ~20% of familial DCM; results may guide surveillance and management (e.g., LMNA may influence ICD decisions).

DCM cascade testing: Predictive genetic testing is appropriate for asymptomatic first- or second-degree relatives when a pathogenic variant has been identified in the family.pathogenic variant in proband

Initial family screening may include ECG and echocardiography prior to genetic testing.

inv-13: Left Ventricular Noncompaction (LVNC / NCCM) — Covered when ALL of the following are met

Covered when ALL of the following are met

LVNC index testing: Genetic testing may be performed for individuals with a clinical diagnosis of left ventricular noncompaction (LVNC/NCCM) based on clinical history, family history, and imaging phenotype; common causative genes include MYH7, MYBPC3, TTN and others.clinical diagnosis of LVNC

Genetic findings can inform risk of MACE and guide management; do not perform genetic testing for isolated/incidental LVNC with normal LV function, no syndromic features, and no family history.

inv-14: HCM — proband testing — Covered when ALL of the following are met for HCM probands

Covered when ALL of the following are met for HCM probands:

HCM proband testing: Initial testing should include genes with definitive or strong evidence of pathogenicity (examples: MYH7, MYBPC3, TNNI3) for probands with clinical HCM, including post-mortem cases.clinical diagnosis of HCM

Consider moderate evidence genes in an expanded tier; cascade testing offered if pathogenic/likely pathogenic variant identified.

inv-15: ACM — proband testing — Covered when ALL of the following are met for arrhythmogenic cardiomyopathy (ACM)

Covered when ALL of the following are met for arrhythmogenic cardiomyopathy (ACM):

ACM proband testing: Comprehensive genetic testing is recommended for patients with phenotypic features consistent with ACM (including post-mortem cases); first-tier definitive genes include PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, FLNC, DES, LMNA.clinical features consistent with ACM

In families with multiple affected members, test the most severely or earliest affected individual first.

inv-16: DCM — indications — Covered when ANY of the following are present for DCM testing utility

Covered when ANY of the following are present for DCM testing utility:

DCM testing indications: Genetic testing is recommended for probands with DCM and a family history of DCM; when DCM is associated with premature unexpected sudden death in relatives; or when clinical features suggest a specific genetic disease (e.g., AV block, sinus dysfunction, elevated CPK). Testing may also be useful in apparently sporadic DCM with severe systolic dysfunction (LVEF <35%), malignant arrhythmia phenotype, or younger age at onset.

Variant-specific testing recommended for relatives after identification of a causative variant.

inv-17: LVNC — testing — Covered when ALL of the following are met for LVNC

Covered when ALL of the following are met for LVNC:

LVNC clinical diagnosis: Genetic testing may be useful when a cardiologist has established a clinical diagnosis of LVNC based on clinical history, family history, and imaging phenotype, and for pathologic LVNC to support diagnostic and cascade family screening.clinical diagnosis of LVNC

Genetic testing should not be performed for isolated/incidental LVNC with normal LV function, no syndromic features, and no family history.

inv-18: Inherited Thoracic Aortic Disease — testing — Covered when ALL of the following are met for HTAD

Covered when ALL of the following are met for HTAD (thoracic aortic disease):

HTAD testing: For individuals with aortic root or ascending aortic aneurysm or aortic dissection and risk factors for hereditary thoracic aortic disease (HTAD), genetic testing to identify pathogenic/likely pathogenic variants should be performed and cascade testing of at-risk relatives is recommended when a pathogenic/likely pathogenic variant is identified.

Obtain multigenerational family history; panels typically include FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, PRKG1 among others.

inv-19: Genetic testing for heritable thoracic aortic disease (HTAD) — Guideline-based recommendations

Guideline-based recommendations for genetic testing in thoracic aortic disease:

Genetic testing for HTAD

When to consider specific gene testing: Sequencing of ACTA2 is reasonable with family history of TAAD; sequencing of TGFBR1, TGFBR2, and MYH11 may be considered when family and clinical history are consistent.
Hiratzka et al. 2010 guidance
Cascade testing: For individuals with TAD who have a pathogenic/likely pathogenic variant, genetic testing of at-risk biological relatives (cascade testing) should be performed.pathogenic/likely pathogenic variant in proband
ACC/AHA 2022

inv-20: Genomic risk profiling and gene expression for CAD — Assessment and coverage position

Assessment of genomic risk scores and gene expression testing for coronary artery disease (CAD):

PRS and genomic profiles for CAD: Evidence is insufficient to support use of genomic risk scores (polygenic risk scores) or gene expression testing for coronary artery disease in routine clinical practice; studies report modest discrimination improvements in select cohorts but inconsistent reclassification and limited generalizability across ancestries.

Genomic risk scores and gene expression tests for CAD are considered unproven and not medically necessary for routine use.

Gene expression testing for obstructive CAD: Gene expression profiling approaches have been developed (blood-based algorithms), but ACC guidelines do not recommend their use for predicting obstructive CAD and larger prospective studies are needed.

See referenced cohort studies and guideline statements.

Genetic and molecular tests that purport to predict risk for coronary artery disease (CAD) — including polygenic risk scores, genomic risk profiling, microarray-based risk panels, and blood-based gene expression algorithms — are not supported for routine clinical use due to insufficient evidence of clinical utility. The policy identifies commercial offerings (for example, targeted variant genotyping panels and gene expression assays) as unproven and not medically necessary for CAD risk assessment; providers should not use these tests as a substitute for established risk assessment and management guided by clinical risk factors and guidelines. (See lists of examples in the applicable code and exclusion sections.)

Some genes previously reported as causal for inherited arrhythmia syndromes have been reclassified after evidence-based curation and may have limited or disputed clinical validity. Panels that include such genes increase the likelihood of detecting variants of uncertain significance (VUS) and results from these genes should not be relied upon for clinical decision-making unless there is new supporting evidence. Laboratories and clinicians should prioritize genes with strong/definitive evidence for the specific phenotype and avoid routine reporting of variants from genes with limited/disputed validity.

Testing that searches for common genetic variants associated with atrial fibrillation (AF) for the purpose of general AF risk prediction is not recommended for clinical use. Professional guidance indicates routine population-level genotyping for AF risk has not demonstrated clinical utility; genetic evaluation for AF should be phenotype-driven and focused on familial or early-onset cases where monogenic contributors are suspected.

When the index (proband) genetic test identifies only benign or likely benign variants and no pathogenic/likely pathogenic (P/LP) variant, cascade genetic testing of family members is not useful. Predictive/variant-specific testing for relatives is appropriate only when a P/LP variant has been identified in the proband.

Genetic testing should not be performed for isolated or incidental left ventricular noncompaction (LVNC) when left ventricular function is normal, there are no syndromic features, and no relevant family history. Testing may be considered when a cardiologist has established a clinical diagnosis of LVNC based on history, family history, and imaging, or when syndromic features are present.

Genomic risk scores, gene expression profiling, and other CAD genomic tests (including many commercial cardiac risk panels) lack consistent evidence demonstrating improvement in patient outcomes and generalizability across populations. As such, these tests are considered unproven for routine clinical assessment of coronary artery disease risk and are not recommended as standard practice.

FDA authorization or approval of a genetic test does not, by itself, establish coverage under this policy. Coverage decisions rely on clinical evidence of utility and plan-specific benefit terms. Laboratories performing testing must be CLIA-regulated, but CLIA status alone does not determine medical necessity or coverage.

Genetic testing approaches intended to predict coronary artery disease risk — including polygenic risk scores, genomic risk profiles, and blood-based gene expression tests — are considered not medically necessary for routine clinical use due to insufficient and inconsistent evidence of clinical benefit. These modalities may be used in research settings, but providers should not order them as a substitute for guideline-directed risk assessment and management.

For some inherited arrhythmia conditions such as Brugada syndrome and CPVT, evidence that routine genetic testing improves health outcomes for the affected individual is limited in certain contexts. Clinical utility is greatest when testing is performed for probands who meet established diagnostic criteria and when family cascade testing follows identification of a pathogenic/likely pathogenic variant; routine or indiscriminate testing outside those contexts may not change management or outcomes.

Use of polygenic risk scores (PRS) or gene expression testing to estimate CAD risk may be considered not medically necessary given current evidence gaps. Studies report modest discrimination in specific cohorts but inconsistent reclassification, limited ancestry generalizability, and no clear evidence that routine use of these scores improves clinical outcomes.

Covered Indications and Targeted Testing

inv-76: High-level list: inherited arrhythmia syndromes and hereditary cardiomyopathies and thoracic aortic disease — family history, ECG findings, absence of acquired causes used to establish indication

High-level list: Inherited arrhythmia syndromes, hereditary cardiomyopathies, and thoracic aortic disease — family history, ECG findings, and exclusion of acquired causes are used to establish indication.

High-level covered indications: Inherited arrhythmia syndromes (BrS, CPVT, LQTS, SQTS), hereditary cardiomyopathies (ARVC/ARVD/ACM, DCM, HCM, LVNC), and heritable thoracic aortic disease (HTAD) are recognized covered indications when clinical diagnostic criteria, family history, and phenotype-driven evaluation support testing.

Phenotype-driven approach emphasized; see specific sections for diagnostic score thresholds and gene lists.

inv-77: Index patients with high-probability LQTS (Schwartz Score ≥3.5) — testing targeted to definitive LQTS genes

Index patients with high-probability LQTS (Schwartz Score ≥3.5) — testing targeted to definitive LQTS genes:

LQTS index patients: Offer molecular genetic testing for definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1-3) to index patients with a high-probability LQTS diagnosis (Schwartz Score ≥3.5) established by clinical history, family history, and ECG findings.

Applicable Codes and Diagnostic Thresholds

Applicable molecular and PLA/CPT codesmixed

0237U	Cardiac ion channelopathies (e.g , Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia) , genomic sequence analysis panel including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions.
0401U	Cardiology (coronary heart disease [CHD]), 9 genes (12 variants) , targeted variant genotyping, blood, saliva, or buccal swab, algorithm reported as a genetic risk score for a coronary event.
0439U	Cardiology (coronary heart disease [CHD]): DNA, analysis of 5 single-nucleotide polymorphisms (SNPs) and 3 DNA methylation markers; qPCR and digital PCR, whole blood, algorithm reported as a 4-tiered risk score for a 3-year risk of symptomatic CHD.
0440U	Cardiology (coronary heart disease [CHD]): DNA, analysis of 10 single-nucleotide polymorphisms (SNPs) and 6 DNA methylation markers; qPCR and digital PCR, whole blood, algorithm reported as detected/not detected for CHD.
0466U	Cardiology (coronary artery disease [CAD]), DNA, genome-wide association studies (polygenic risk), targeted variant genotyping, patient lifestyle and clinical data, algorithm reported as polygenic risk to acquired heart disease.
81410	Aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include SLC2A10, SMAD3, and MYLK.
81411	Aortic dysfunction or dilation; duplication/deletion analysis panel (must include relevant genes).
81413	Cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel (must include KCNJ2, KCNQ1, RYR2, and SCN5A).
81414	Cardiac ion channelopathies duplication/deletion gene analysis panel.
81439	Hereditary cardiomyopathy (e.g., hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy); genomic sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-related genes (e.g., DSG2, MYBPC3, MYH7, PKP2, TTN).

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QTc diagnostic thresholds and Schwartz scoring

QTc diagnostic ECG thresholdsProlonged QTc diagnostic ECG: >470 ms in males or >480 ms in females

QTc on exercise recoveryQTc at fourth minute of recovery ≥480 ms counts in Schwartz scoring

Schwartz score — low probabilityTotal score <1.0 = low probability of LQTS

Schwartz score — intermediate probabilityTotal score 1.5–3.0 = intermediate probability of LQTS

Schwartz score — high probabilityTotal score ≥3.5 = high probability of LQTS

Provider Actions, Documentation, and Prior Authorization Guidance

Prior Authorization

Code reference and potential prior authorization

Applicable procedure and diagnosis codes are provided for reference and may be subject to prior authorization per the member's benefit design. Listing of a code in this policy does not imply coverage or guarantee payment. Benefit coverage is determined by federal, state, or contractual requirements and applicable laws.

Codes listed in policy are for reference only and may require prior authorization based on plan terms
Inclusion of a code does not imply reimbursement or coverage

Prior Authorization

Clinical indication requirement and prior authorization guidance

Genetic testing for inherited cardiomyopathies, channelopathies, and thoracic aortic disease is recommended when clinical diagnostic criteria or a high pre-test probability are met. Testing should be phenotype-driven and ordered by a cardiologist or specialist after clinical evaluation (including ECG, exercise testing, Holter monitoring, and imaging as appropriate). Cascade (familial) testing is recommended for at-risk relatives when a pathogenic/likely pathogenic (P/LP) variant is identified in a proband.

Not Covered Items and Limitations

The following categories of tests for coronary artery disease risk are explicitly listed as not covered by the policy: multigene or microarray-based risk profiles and polygenic algorithms (examples include targeted genotyping panels and genome-wide PRS offerings), and blood-based gene expression profiling assays. Procedure and PLA/CPT codes associated with these technologies are listed for reference, but testing in these categories is considered unproven and not covered for routine clinical use.

Routine clinical reporting or reliance on variants from genes that have been shown to have limited, disputed, or refuted evidence for disease causation is discouraged. Panels that include such genes increase the likelihood of detecting variants of uncertain significance and may lead to inappropriate clinical actions; results from these genes should not drive management unless further evidence supports a causal role.

Testing strategies that search for common genetic variants to predict general atrial fibrillation risk are not covered. Genetic evaluation for AF should be limited to phenotype-driven testing in familial or early-onset AF where monogenic contributors are suspected, rather than routine variant screening for population-level risk prediction.

Genetic testing for incidental or isolated LVNC with normal left ventricular function, absent syndromic features, and no family history is not covered. Testing is appropriate only when a clinical diagnosis of LVNC has been established or when syndromic or familial features indicate inherited disease.

The policy does not cover universal application of DNA-based testing to determine cardiovascular risk. Genomic risk scores for CAD and related DNA-based risk profiling lack sufficient evidence for routine clinical implementation and are not recommended as covered services.

Definitions and Background

Inherited arrhythmia syndromes and hereditary cardiomyopathies encompass a range of disorders in which genetic testing can meaningfully inform diagnosis and family screening. Channelopathies such as long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT) predispose to syncope and sudden cardiac death and often require phenotype-driven genetic testing. Cardiomyopathies (HCM, DCM, ARVC/ACM, LVNC) and heritable thoracic aortic disease (HTAD) have identifiable causal genes where multi-gene panel testing can facilitate diagnosis, guide management, and enable cascade testing for at-risk relatives. Clinical context, family history, and guideline-based diagnostic criteria determine when testing is indicated.

First‑Degree Relative

DefinitionFirst‑degree relatives include parents, siblings, and offspring

Clinical useUsed to define at‑risk family members for cascade testing and family history assessment

Pedigree requirementObtain multigenerational family history (at least 3 generations) when evaluating inherited cardiac disease

Multi‑Gene Panel

Eligibility Requirements and Relatives' Testing

Eligibility for genetic testing requires documentation that supports a clinical diagnosis or high pre-test probability. Providers should supply relevant clinical information (history, family history, ECG findings, diagnostic scores such as the Schwartz score for LQTS) and evidence that testing is ordered to inform diagnosis or cascade screening. Pre-test genetic counseling is strongly recommended and documentation of counseling and pertinent clinical findings should accompany orders for targeted multi-gene panels.

Diagnosis-based eligibility requires that a specialist (typically a cardiologist or cardiovascular geneticist) establish the diagnosis or a high pre-test probability before ordering molecular testing. Expected supporting documentation includes clinical history, family history, ECG characteristics (including Schwartz score elements when relevant), and imaging results when testing for cardiomyopathies; this documentation helps justify testing and supports interpretation of results.

Coverage for predictive or cascade testing in relatives is contingent on identification of a pathogenic or likely pathogenic variant in the proband. When a P/LP variant is identified, targeted familial variant testing is the preferred approach for at-risk relatives rather than re-sequencing full panels. Predictive testing in children may be considered in specific settings guided by condition-specific recommendations and counseling.

As an explicit eligibility requirement, cascade genetic testing of family members should not be performed when the proband’s testing reveals only benign or likely benign variants. Family testing is indicated only following identification of a pathogenic or likely pathogenic familial variant.

For heritable thoracic aortic disease (HTAD), eligibility for testing includes individuals with aortic root or ascending aortic aneurysm or dissection and risk factors for HTAD. Multigenerational family history and clinical features consistent with syndromic presentations should be documented; when a P/LP variant is identified, cascade testing of at-risk biological relatives is indicated.

Additional Provider Actions and Counseling

Note

Policy Revision History

2025-06-01New policyLatest

Policy created as a new medical policy (Summary of Changes: New Medical Policy).

OpenPayer

Genetic Testing for Cardiac Disease (for Kansas Only)

Coverage Criteria for Genetic & Molecular Testing

Covered Indications and Targeted Testing

Applicable Codes and Diagnostic Thresholds

Provider Actions, Documentation, and Prior Authorization Guidance

Not Covered Items and Limitations

Definitions and Background

Eligibility Requirements and Relatives' Testing

Additional Provider Actions and Counseling

Policy Revision History