UnitedHealthcare Genetic Cardiac Testing Coverage Update

Coverage Criteria and Indications

inv-01: Inherited Arrhythmias - Covered when ANY of the following diagnoses are present

Multi-Gene Panel testing is proven and medically necessary in individuals with a confirmed or suspected diagnosis of any of the following conditions:

Inherited arrhythmia indications: Brugada syndrome (BrS)

Inherited arrhythmia indications: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Inherited arrhythmia indications: Familial long QT syndrome (LQTS) when acquired causes have been ruled out and one of the following criteria are met: prolonged QTc (>460 ms) on exercise/ambulatory/pharmacologic provocation; T‑wave abnormalities suggestive of LQTS (Torsades de pointes, T‑wave alternans, or notched T waves in ≥3 leads); profound congenital bilateral sensorineural hearing loss with prolonged QTc; or Schwartz Score ≥ 1.5

Inherited arrhythmia indications: Short QT syndrome (SQTS)

inv-02: Inherited Cardiomyopathies - Covered when ANY of the following diagnoses are present

Multi-Gene Panel testing is proven and medically necessary in individuals with a confirmed or suspected diagnosis of any of the following conditions:

Cardiomyopathy indications: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

Cardiomyopathy indications: Dilated cardiomyopathy (DCM) without an identifiable cause when one of the following is present: cardiac conduction disease (any degree block) OR sudden cardiac death in a First‑ or Second‑Degree Relative at age ≤45 years

Cardiomyopathy indications: Hypertrophic cardiomyopathy (HCM) without an identifiable cause (eg, not explained by valvular disease, hypertension, infiltrative or neuromuscular disorder)

Cardiomyopathy indications: Left ventricular noncompaction cardiomyopathy (LVNC)

inv-03: Inherited Thoracic Aortic Disease - Covered when ANY of the following are present

Multi-Gene Panel testing is proven and medically necessary for either of the following:

Thoracic aortic disease indications: Individual has confirmed thoracic aortic disease (eg, thoracic aortic aneurysm or dissection)

Thoracic aortic disease indications: Thoracic aortic disease is suspected based on family history of thoracic aortic disease in a First‑ or Second‑Degree Relative

inv-04: Testing Based Only On Family History - Covered for asymptomatic individuals when ALL conditions met

Multi-Gene Panel testing is proven and medically necessary in asymptomatic individuals who have a First‑Degree or Second‑Degree Relative with one of the following conditions, provided ALL elements below are satisfied:

Asymptomatic family-history-based coverage: Asymptomatic individual with a First‑Degree or Second‑Degree Relative affected by one of the listed inherited arrhythmia or cardiomyopathy conditions OR a First‑Degree Relative who experienced sudden cardiac death or near sudden death at age ≤45 years

Listed conditions include ARVD/C, BrS, CPVT, congenital LQTS, familial DCM, HCM, LVNC, SQTS; or First‑Degree Relative with SCD/near SCD ≤45

inv-05: LQTS — index and cascade testing

Guideline-based recommendations — covered when ALL of the following are met for index and cascade testing in LQTS:

LQTS index patient testing: Index patient has a high‑probability clinical diagnosis of LQTS (Schwartz score ≥ 3.5) based on clinical history, family history, and ECG/ambulatory/exercise testingSchwartz score >= 3.5

Offer molecular testing of definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3); consider gene‑specific analyses for syndromic forms (eg, KCNQ1/KCNE1 for Jervell and Lange‑Nielsen; CACNA1C for Timothy; KCNJ2 for Andersen‑Tawil; TRDN for triadin knockout).

Family member testing: Variant‑specific genetic testing is recommended for family members and appropriate relatives after identification of a disease‑causing variant in the probandN/A

Predictive testing in related children is recommended from birth onward (any age) when a familial P/LP variant is identified.

inv-06: CPVT and BrS — evidence summary

Evidence and coverage considerations for CPVT and BrS (informational):

CPVT testing evidence: Genetic testing identifies variants in established CPVT genes (eg, RYR2, CASQ2, CALM1‑3, TRDN, TECRL); clinical utility for index patients is limited per evidence reviews, but testing is useful for family members when a familial variant is identified

Manufacturer estimates of 3‑gene panel sensitivity ~50–75%; Hayes found insufficient evidence of improved outcomes for index patients but probable utility for relatives.

BrS testing evidence: Testing yields pathogenic/likely pathogenic variants in ~25–35% of clinically suspected BrS cases; SCN5A accounts for ~15–30% of cases; evidence for improved outcomes in index BrS patients is insufficient

Testing may have prognostic relevance when SCN5A P/LP variants are present, but routine index‑patient testing lacks demonstrated outcome benefit per Hayes evaluations.

inv-07: Long QT Syndrome (LQTS) — Covered when ALL of the following are met

Covered when an index patient has a high‑probability clinical diagnosis of LQTS:

LQTS index testing: Index patient has a high‑probability diagnosis of LQTS based on clinical history, family history, and ECG characteristics (Schwartz score ≥ 3.5)Schwartz score >= 3.5

Molecular testing for definitive disease‑associated genes (KCNQ1, KCNH2, SCN5A, CALM1‑3) should be offered; include targeted testing for syndromic presentations as indicated.

inv-08: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) — Covered when ANY of the following apply

Molecular testing recommended or may be considered depending on diagnostic score:

CPVT diagnostic testing: Patient satisfies diagnostic criteria for CPVT (Class 1 clinical diagnosis or CPVT diagnostic score > 3.5)CPVT diagnostic score > 3.5

Test established CPVT genes (RYR2, CASQ2, CALM1‑3, TRDN, TECRL)

CPVT modest phenotype testing: Patient has a modest CPVT phenotype (diagnostic score ≥2 but <3.5); genetic testing for established CPVT genes may be consideredscore >=2 and <3.5

Consider testing for phenocopy genes (KCNJ2, SCN5A, PKP2) if phenotype suggests overlap.

inv-09: Brugada Syndrome (BrS) — Covered when ALL of the following are met

Covered for index cases with diagnostic ECG pattern and supporting clinical features or family history:

BrS index testing: Index case diagnosed with Brugada syndrome with a type I ECG pattern (spontaneous or drug‑induced) in the presence of supporting clinical features or family historytype I ECG

Genetic testing sequencing of SCN5A is recommended; variants in genes with disputed validity should not be routinely reported; variant‑specific testing for relatives after identification of P/LP variant is recommended.

inv-10: Short QT Syndrome (SQTS) — Covered when ALL of the following are met

Covered for patients meeting diagnostic criteria for SQTS:

SQTS testing: Patient satisfies diagnostic criteria for Short QT Syndrome (eg diagnostic score ≥ 4)SQTS diagnostic score >= 4

Molecular testing for definitive genes (KCNH2, KCNQ1) recommended; testing of additional genes (KCNJ2, SLC4A3) may be performed when cardiologist documents high pre‑test probability.

inv-11: Inherited Atrial Fibrillation (familial, age <60) — Coverage stance

Consider genetic testing when familial young‑onset atrial fibrillation is established by cardiology:

Inherited AF testing: Index patients with familial atrial fibrillation (age < 60) and diagnosis established by clinical evaluationage <60

Analysis may include SCN5A, KCNQ1, MYL4, and truncating TTN variants; variant‑specific testing for relatives may be considered in selected settings.

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

Genetic testing is indicated for probands with clinical HCM and for cascade testing in relatives of genotype‑positive probands:

HCM proband testing: Probands with clinical HCM (LV wall thickness ≥13–15 mm in adults) after other causes excludedLV wall thickness >=13-15 mm

Initial testing should include sarcomeric genes (eg MYH7, MYBPC3 and others); detection rate varies by age and family history; analytic sensitivity for sequencing is high.

HCM cascade testing: Relatives of probands with an identified pathogenic or likely pathogenic (P/LP) variantrelative of genotype-positive proband

Variant‑specific predictive testing recommended; clinical screening (ECG/echocardiography) advised for at‑risk relatives.

inv-13: Arrhythmogenic Cardiomyopathy (ACM/ARVC) — Covered when ALL of the following are met

Genetic testing supports diagnosis and cascade screening where clinical suspicion or diagnostic criteria apply:

ACM/ARVC testing: Patients meeting diagnostic criteria for ARVC/ACM or where genetic testing would resolve borderline investigationsmeets ITF criteria or supportive clinical findings

Identification of a P/LP variant is a major diagnostic criterion and may be required for ALVC; first‑tier genes include DSC2, DSG2, DSP, JUP, PKP2, TMEM43 and others.

inv-14: Familial Dilated Cardiomyopathy (DCM) — Covered when ALL of the following are met

Genetic testing is indicated for familial DCM to identify pathogenic variants and inform cascade testing:

DCM testing: Patients with familial DCM or clinical DCM where a hereditary cause is suspectedfamilial DCM or clinical suspicion

Over 30 genes implicated (eg DES, LMNA, SCN5A, TTN ~20%); genetic testing identifies causal mutation in ~22–50% of cases; variant‑specific testing recommended for relatives after identification of a P/LP variant.

inv-15: Guideline-aligned coverage criteria

Recommendations aligned with professional guidelines and position statements — covered when the following guideline‑based elements are met:

Proband testing for cardiomyopathy: Genetic testing is recommended for probands with confirmed cardiomyopathies (HCM, DCM, ACM, LVNC) to determine genetic basis and enable cascade testing

References include ACC/AHA, HRS/HFSA and other guideline statements.

Cascade and family testing: Variant‑specific predictive testing is recommended for first‑degree relatives when a P/LP variant is identified in a proband; initial family clinical screening should include ECG and echocardiography

Gene panel selection: Initial testing should focus on genes with definitive/strong evidence for the specific cardiomyopathy (eg HCM: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC1); tiered testing approach encouraged

Broader panels including moderate‑evidence genes may be considered based on phenotype and family history.

inv-16: HCM: Proband and family testing

HCM — proband and family testing recommendations (condition‑specific):

HCM initial gene tier: Initial testing in a proband with HCM should include genes with definitive/strong evidence (MYH7, MYBPC3, TNNI3, TPM1, MYL2, MYL3, ACTC1, TNNT2); may include moderate‑evidence genes (CSRP3, TNNC1, JPH2) as indicated

Includes post‑mortem probands for cascade testing purposes.

Predictive testing in relatives: Predictive genetic testing in related children is recommended in those aged >10–12 years; may be considered under age 10–12 when family history indicates early‑onset diseaseage >10-12 years preferred

Cascade testing not recommended for genotype‑negative relatives when proband testing found no P/LP variants.

VUS guidance: When a proband has a variant of uncertain significance (VUS), testing phenotype‑negative relatives for reclassification is of uncertain utility; testing affected family members to aid classification may be considered

inv-17: ACM: Proband and family testing

ACM — proband and family testing recommendations (condition‑specific):

ACM proband testing: Comprehensive genetic testing recommended for patients with consistent ACM phenotype (including post‑mortem cases); first‑tier genes include PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, FLNC, DES, LMNA

In families with multiple affected members, test the member with more severe/earlier phenotype first as the genetic proband.

Predictive testing in relatives: Variant‑specific testing is recommended for relatives after identification of a causative variant; predictive testing in related children recommended >10–12 years, may be considered younger with early‑onset family historyage >10-12 years preferred

inv-18: DCM: Proband and family testing

DCM — proband and family testing recommendations (condition‑specific):

DCM testing indications: Recommend genetic testing for probands with DCM and family history of DCM; or DCM with family history of premature unexpected sudden death; or DCM with clinical features suggestive of a genetic disease (eg AV block, sinus dysfunction, CK elevation)

Testing may be useful in apparently sporadic DCM with severe systolic dysfunction (LVEF <35%), malignant arrhythmia, or younger age.

DCM gene tiers: Initial tier should include definitive/strong genes (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP); may include moderate‑evidence genes (ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL)

Variant‑specific testing recommended for relatives after causative variant identified.

inv-19: LVNC: Indications and exclusions

LVNC — indications and exclusions:

LVNC testing indication: Genetic testing may be useful when a cardiologist has established a clinical diagnosis of LVNC based on history, family history, and ECG/echo/MRI phenotype, especially when associated with other cardiac or syndromic features

Variant‑specific testing may be considered for relatives after causative variant identified.

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

HRS recommends counseling and testing when proband has a disease‑causing variant or pathologic LVNC.

inv-20: HTAD: Indications, gene lists, and cascade testing

HTAD — indications, gene lists, and cascade testing:

HTAD testing indications: Genetic testing recommended for individuals with aortic root/ascending aneurysms or aortic dissection who have risk factors for HTAD, and for those with clinical features of syndromic aortopathy (eg Marfan)

Obtain multigenerational family history of TAD and unexplained sudden deaths; testing can guide surveillance and management.

HTAD gene panel guidance: Panels should include genes with definitive/strong evidence (eg FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, PRKG1) and may include additional genes with overlapping syndromic features

ClinGen/ACC/AHA identify 9–11 genes with definitive/strong evidence; negative testing occurs in ~70% of non‑syndromic families.

HTAD cascade testing: For individuals with established P/LP variants predisposing to HTAD, provide genetic counseling and perform cascade testing of at‑risk biological relatives; management and surveillance guided by specific gene/variant

Certain gene findings (eg TGFBR1/2) influence surveillance frequency and surgical thresholds.

inv-21: Not Medically Necessary — Nonlisted Indications

Policy statement regarding indications not listed as medically necessary:

Not medically necessary unless listed: All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease not listed as medically necessary in this policy is unproven and not medically necessary due to insufficient evidence of efficacy

Exception: does not apply to chromosome microarray analysis for isolated severe congenital heart disease.

All genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease that is not specifically listed as medically necessary in this policy is considered unproven and not medically necessary due to insufficient evidence of efficacy. This exclusion does not apply to chromosome microarray analysis for isolated severe congenital heart disease, which is an exception noted in the policy.

Including genes with limited or disputed evidence on multisite panels (for example, certain calcium‑channel genes often added to SQTS panels) can increase the rate of variants of uncertain significance (VUS) without a corresponding increase in diagnostic yield. The policy therefore discourages routine inclusion of such low‑evidence genes on initial panels and recommends using an evidence‑based, tiered gene selection approach.

Searching for common genetic variants or polygenic markers associated with atrial fibrillation has not been shown to be useful for routine clinical decision making; the consensus is that analysis of common variants for AF risk is not recommended in the clinical setting absent a clear phenotype-driven indication.

When genetic testing in an individual with hypertrophic cardiomyopathy (HCM) identifies no pathogenic or likely pathogenic (P/LP) variants, performing cascade genetic testing in relatives is not useful and is not recommended; ongoing clinical screening in genotype‑negative relatives is generally not indicated unless other clinical changes or reclassification occur.

Genetic testing should not be performed for isolated or incidental left ventricular noncompaction (LVNC) when the patient has normal left ventricular function, no syndromic features, and no relevant family history, as testing in this scenario is unlikely to be diagnostically useful.

Cascade (predictive) genetic testing of family members is indicated only after a familial pathogenic/likely pathogenic (P/LP) variant has been identified in the proband. If proband testing finds no P/LP variants, cascade genetic testing of relatives is not recommended.

A European Joint Task Force review concluded that the routine use of genetic markers to predict coronary heart disease (CHD) is not recommended because there is no consensus on which markers to include, how to calculate scores, or how to use such information for prevention; therefore genetic marker–based prediction of CHD is currently unsupported for clinical use.

The policy references peer‑reviewed literature that questions the pathogenicity of variants previously reported to cause disease (for example, exome data re‑analyses showing previously associated variants in population datasets). Such evidence underlies caution about reporting and acting on variants without robust gene‑disease validity.

The policy’s statement that genetic testing not listed as medically necessary is unproven and not medically necessary does not apply to chromosome microarray analysis for isolated severe congenital heart disease; that specific test is an explicit exception to the general exclusion.

Genetic tests and profiles marketed for coronary artery disease risk assessment — including polygenic risk scores (PRS), gene expression assays, methylation or algorithmic risk tests, and related commercial cardiac risk panels — are considered unproven and not medically necessary for routine clinical use because current evidence does not demonstrate sufficient clinical utility or consistent improvement in risk discrimination.

Available evidence and systematic reviews indicate that routine genetic testing for index patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS) has insufficient evidence to demonstrate improved health outcomes; testing may still be useful for family cascade testing when a familial variant is identified.

Genetic testing for inherited arrhythmia syndromes should be phenotype driven. Testing in the absence of a diagnostic phenotype or supportive ECG findings is not recommended and may be considered not medically necessary because pre‑test probability is insufficient.

Direct‑to‑consumer genetic tests for cardiovascular disease are not supported as a substitute for clinical genetic testing in routine care due to variability in methods, lack of standardized reporting and counseling, and insufficient evidence of clinical utility.

Reiterating the LVNC guidance: genetic testing is not medically necessary for isolated or incidental LVNC when there is normal LV function, no syndromic features, and no family history — testing in that context is unlikely to change management.

Evidence is currently insufficient to support routine clinical use of genomic risk scores (PRS/GPS) or gene expression–based tests for coronary artery disease; studies have not consistently shown meaningful improvement in discrimination or clinical decision‑making compared with conventional risk factors.

Some reference lists cited in the policy present evidence summaries and primary studies but do not themselves contain explicit 'not medically necessary' statements; the policy therefore synthesizes evidence and issues explicit coverage stances where appropriate.

As restated in the policy coverage rationale, genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease that is not listed as medically necessary within this document is considered unproven and not medically necessary due to insufficient evidence of efficacy, except where a specific exception (e.g., chromosome microarray for isolated severe congenital heart disease) is noted.

Specific Covered Indications

inv-97: Aggregate list of inherited arrhythmias, cardiomyopathies, HTAD, and family-history-based testing indications

Aggregate list of covered inherited cardiac indications (index patients and family‑history‑only testing) includes any of the following:

Aggregate inherited cardiac indications: Inherited arrhythmias: BrS, CPVT, LQTS (with specified criteria), SQTS

Aggregate inherited cardiac indications: Inherited cardiomyopathies: ARVD/C (ACM), familial DCM (per criteria), HCM without identifiable cause, LVNC (when clinically diagnosed)

Aggregate inherited cardiac indications: Inherited thoracic aortic disease: confirmed TAD or suspected based on family history

Aggregate inherited cardiac indications:

Eligibility and Pre-Testing Conditions

Coverage for testing based only on family history requires an affected first‑degree or second‑degree relative with one of the specified inherited cardiac conditions or a first‑degree relative with sudden cardiac death or near‑death at age ≤45; family‑history‑only testing is limited to those scenarios.

Additional eligibility nodes are placeholders in the brief and should reference clinical documentation requirements (e.g., diagnostic test results, family history pedigree, and specialist evaluations) when applied operationally.

Coverage based solely on family history reiterates that the qualifying relative must be a first‑degree or second‑degree relative meeting the listed disease or sudden‑death criteria.

The policy repeats the family‑history requirement in multiple eligibility nodes to emphasize that asymptomatic testing is restricted to relatives meeting the specified relationship and condition criteria.

Eligibility for family‑history‑based testing is contingent on documentation that the affected relative had one of the listed hereditary arrhythmia or cardiomyopathy conditions or a qualifying sudden cardiac death event.

When requesting testing based only on family history, providers should supply a pedigree and medical record documentation demonstrating the relative’s diagnosis or sudden cardiac event to meet eligibility requirements.

This node is a placeholder for additional eligibility detail (e.g., age thresholds or documentation formats) to be applied per plan or operational guidance.

Provider Actions, Documentation, and Authorization

Note

Overview

The following notes summarize required provider actions, documentation expectations, and authorization considerations for cardiovascular genetic testing.

Prior Authorization

Code reference / Prior authorization note

Applicable CPT/PLA codes listed in this policy are provided for reference only. Inclusion of a code does not guarantee coverage or prior authorization (PA) requirements; follow the payer’s prior authorization systems and the member’s plan-specific benefit contract for PA submission instructions.

Reference codes include — examples only: 0237U, 0401U, 81410, 81411, 81413, 81414, 81439.

Denial Risk

Coding and Billing

Applicable PLA codes (selected)PLA

0237U

Cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia), genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2 , and SCN5A , 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

Applicable PLA codes (cardiac risk)PLA

0439U	Cardiology (coronary heart disease [CHD]), DNA, analysis of 5 single-nucleotide polymorphisms (SNPs) (rs11716050 [LOC105376934], rs6560711 [WDR37], rs3735222 [SCIN/LOC107986769], rs6820447 [intergenic], and rs9638144 [ESYT2]) and 3 DNA methylation markers (cg00300879 [transcription start site {TSS200} of CNKSR1], cg09552548 [intergenic], and cg14789911 [body of SPATC1L]), 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) (rs710987 [LINC010019], rs1333048 [CDKN2B-AS1], rs12129789 [KCND3], rs942317 [KTN1-AS1], rs1441433 [PPP3CA], rs2869675 [PREX1], rs4639796 [ZBTB41], rs4376434 [LINC00972], rs12714414 [TMEM18], and rs7585056 [TMEM18]) and 6 DNA methylation markers (cg03725309 [SARS1], cg12586707 [CXCL1, cg04988978 [MPO], cg17901584 [DHCR24-DT], cg21161138 [AHRR], and cg12655112 [EHD4]), qPCR and digital PCR, whole blood, algorithm reported as detected or not detected for CHD.
0466U	Cardiology (coronary artery disease [CAD]), DNA, genome-wide association studies (564856 single- nucleotide polymorphisms [SNPs], targeted variant genotyping), patient lifestyle and clinical data, buccal swab, algorithm reported as polygenic risk to acquired heart disease.

Applicable CPT molecular pathology codesCPT

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 sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK.
81411	Aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1.
81413	Cardiac ion channelopathies (e.g., 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.
81414	Cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion gene analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1.
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).
81479	Unlisted molecular pathology procedure.
81493	Coronary artery disease, mRNA, gene expression profiling by real-time RT-PCR of 23 genes, utilizing whole peripheral blood, algorithm reported as a risk score.

Schwartz Score & QTc — diagnostic thresholds and score categories

Schwartz score categories≤1.0 = low probability; 1.5–3.0 = intermediate probability; ≥3.5 = high probability

QTc diagnostic cutoffs (ECG)>470 ms males; >480 ms females

QTc values in Schwartz scoringQTc ≥480 ms (3 points); 460–479 ms (2 points); 450–459 ms in males (1 point)

Schwartz score threshold

Threshold for offering molecular testingSchwartz score ≥ 3.5 (high-probability LQTS)

Supporting documentationClinical history, family history, and ECG/Holter/exercise testing consistent with high-probability diagnosis

Not Covered / Unproven Services

Genetic testing for coronary artery disease risk — including polygenic risk scores (PRS), gene expression profiling, methylation or algorithmic risk tests — is considered not covered. The policy cites insufficient evidence that these tests improve clinical outcomes or meaningfully enhance risk prediction beyond conventional risk factors.

The policy discourages panels that include genes with limited or disputed evidence because such panels tend to increase rates of VUS without increasing diagnostic yield; providers are advised to prioritize genes with strong/definitive evidence when selecting panel scope.

Routine clinical testing for common AF‑associated genetic variants or polygenic predictors is not recommended because current evidence does not demonstrate that such testing changes clinical management or improves outcomes.

Use of direct‑to‑consumer genetic test results as a substitute for clinical genetic testing is not supported for routine clinical care due to variability in testing methods, lack of standardized reporting, and insufficient evidence of clinical utility.

Testing for isolated or incidental LVNC with preserved left ventricular function, no syndromic features, and no family history is explicitly not recommended and is listed among not covered scenarios.

Routine clinical use of genomic risk scores or gene expression testing for coronary artery disease is not supported by current evidence and therefore is not covered as a standard clinical service.

Background and Rationale

Genetic testing technologies for cardiac conditions include chromosome microarray analysis (CMA) and next‑generation sequencing (NGS) gene panels ranging from targeted single genes to exome/genome testing. When indicated by phenotype and family history, genetic testing can assist with diagnosis, prognosis, and clinical management; selection of appropriate test type should be guided by clinical evaluation and specialist input.

Definitions

First-Degree Relative definition

DefinitionParents, siblings, and offspring.

Coverage relevanceRequired relationship degree for family-history–based coverage and cascade testing decisions

DocumentationThree-generation family history and pedigree recommended to support testing requests

Second-Degree Relative definition

DefinitionHalf-brothers/sisters, aunts/uncles, grandparents, grandchildren, and nieces/nephews affected on the same side of the family.

Coverage relevanceSecond-degree relatives qualify asymptomatic individuals for family-history–based testing when specified conditions are present in the relative

Revision History

2026-02-01revisionLatest

Replaced coverage rationale wording to state that genetic testing not listed as medically necessary is 'unproven and not medically necessary due to insufficient evidence of efficacy' while retaining an exception for chromosome microarray analysis for isolated severe congenital heart disease; added referenced links to several Nebraska-only related medical policies; clarified that medical records documentation may be required to assess clinical criteria but does not guarantee coverage; updated supporting sections (Description of Services, Clinical Evidence, FDA, References); archived prior policy version CS048NE.D.

OpenPayer

Genetic Testing for Cardiac Disease (for Nebraska Only) - Multi-gene panels and related testing for inherited cardiomyopathies, arrhythmias, and thoracic aortic disease