CurrentColorado Rocky Mountain Health PlansPolicy 2026T0552CC

Genetic Testing for Cardiac Disease – Commercial and Individual Exchange Medical Policy

Defines UnitedHealthcare Commercial and Individual Exchange medical policy coverage rationale, medical necessity criteria, applicable codes, definitions, and clinical guidance for multi-gene panel genetic testing for inherited arrhythmias, cardiomyopathies, thoracic aortic disease, and testing based on family history; excludes most genetic testing for coronary artery disease and other non-supported tests.

Policy Summary

PayerColorado Rocky Mountain Health Plans

PolicyGenetic Testing for Cardiac Disease – Commercial and Individual Exchange Medical Policy

Policy CodePolicy 2026T0552CC

Change TypeCode addition / administrative update

Effective DateApr 1, 2026

Next Review Date

Key ActionEnsure genetic testing is driven by documented clinical phenotype and perform pre-test genetic counseling prior to ordering.

SourceLink

POLICY UPDATE CHANGES

Added CPT/proprietary code 0617U to the list of applicable codes.

Archived previous policy version 2026T0552BB.

9Primary covered diagnostic categories listed

≥5Minimum genes for panels addressed

11HTAD genes with confirmed association cited

70%

Proportion of HTAD families without identifiable genetic cause

2026Policy effective date year

Coverage Summary

Scope: This policy (Policy No. 2026T0552CC, effective April 1, 2026) defines UnitedHealthcare Commercial and Individual Exchange coverage rationale, medical necessity criteria, applicable codes, and clinical guidance for genetic testing of cardiac disease. It applies to multi-gene panels and microarray profiles that evaluate five or more genes and to related technologies including chromosome microarray analysis (CMA), next-generation sequencing (NGS), gene expression arrays, and microRNA analysis.

Subject and covered technologies: the policy addresses genetic testing for inherited arrhythmias, cardiomyopathies, and heritable thoracic aortic disease and describes covered test modalities (multi-gene NGS panels, CMA, gene expression profiling, microRNA assays) used to assist diagnosis, prognosis, and clinical management decisions.

Exclusions / high-level limitations: the policy excludes most genetic testing for coronary artery disease (CAD) and genomic risk profiling as unproven and not medically necessary; chromosome microarray analysis remains an exception for isolated severe congenital heart disease. Cardiomyopathies that present primarily as neuromuscular disorders are handled under a separate Genetic Testing for Neurological Disorders policy. The policy lists applicable CPT/PLA codes and was updated on 04/01/2026 to add code 0617U.

Quick facts / thresholds

Minimum genes for panelsPolicy applies to panels with ≥5 genes

Effective dateApril 1, 2026

Primary covered diagnostic categoriesInherited arrhythmias, inherited cardiomyopathies, inherited thoracic aortic disease (HTAD) and testing based on family history

HTAD definitive genes count11 genes typically included on HTAD panels; ClinGen definitive list includes 9 definitive + 2 strong (total 11)

Code added0617U added in 04/01/2026 revision

Coverage Rationale and Medical Necessity Criteria

Multi-gene panel testing is proven and medically necessary when ALL of the following condition-specific criteria are met:

ALL of the following

Inherited Arrhythmias
- Brugada syndrome (BrS).
- Catecholaminergic polymorphic ventricular tachycardia (CPVT).
- - Prolonged QTc (> 460 ms) on exercise or ambulatory electrocardiogram (ECG), Holter monitoring, or during pharmacologic provocation testing.

Condition-Specific Coverage Criteria (by Syndrome)

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Covered when criteria below are met:

ALL of the following

Molecular genetic testing for established definite/strong-evidence CPVT-susceptibility genes: RYR2, CASQ2, CALM1, CALM2, CALM3, TRDN, TECRL

Consider in phenotype-positive or modest phenotype

Phenotype-positive CPVT patients negative for established genes: testing may be considered for CPVT phenocopy genes KCNJ2, SCN5A, PKP2
Patients with modest phenotype (CPVT diagnostic score >= 2 but < 3.5): testing may be considered for established genes RYR2, CASQ2, CALM1-3, TRDN, TECRLCPVT diagnostic score >= 2 and < 3.5

Guideline-Based Recommendations & Gene-Tier Guidance

Indications and recommended testing per professional societies (guideline-guided, conditional recommendations): professional society guidance (EHRA/HRS/APHRS/LAHRS, AHA, ACC/AHA, HFSA/ACMG/HRS) is summarized and presented as conditional, phenotype-driven recommendations — testing should be reserved for probands with a confirmed or suspected inherited cardiovascular diagnosis or for cascade testing when a P/LP variant is identified in the family.

EHRA/HRS/APHRS/LAHRS (arrhythmia-focused): for LQTS, offer molecular testing of definitive disease genes (e.g., KCNQ1, KCNH2, SCN5A, CALM1-3) in index patients with high-probability clinical diagnosis (Schwartz Score ≥3.5); variant-specific testing and predictive testing in children from birth are recommended for family members. For CPVT, test established definite/strong genes (RYR2, CASQ2, CALM1-3, TRDN, TECRL) when diagnostic criteria (e.g., CPVT score >3.5) are met; consider phenocopy genes (KCNJ2, SCN5A, PKP2) in selected cases. For BrS, sequencing of SCN5A is recommended for an index case with type I ECG (spontaneous or provoked); do not routinely report variants in genes of disputed validity, and consider targeted family co-segregation analysis for rare SCN5A variants. For SQTS, test definitive genes (KCNH2, KCNQ1) when diagnostic score ≥4 and consider KCNJ2 and SLC4A3 in high-probability cases.

Cardiomyopathies (EHRA/HRS and ACC/AHA/HFSA/ACMG guidance): for HCM, initial testing should include genes with definitive/strong evidence (e.g., MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC1); genetic counseling is recommended, cascade testing offered for P/LP variants, and predictive testing timing in children guided by age/family history (generally >10–12 years recommended). For ACM/ARVC, perform comprehensive testing including first-tier definitive genes (PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, FLNC, DES, LMNA). For DCM, test initial-tier genes with definitive/strong evidence (e.g., BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP) and consider testing even in apparently sporadic severe cases; LMNA findings may influence ICD consideration. For LVNC, consider testing when a clinical diagnosis is established and avoid testing in isolated incidental LVNC with normal function and no family history.

Polygenic Risk Scores (PRS) and Coronary Artery Disease (CAD)

Polygenic Risk Scores (PRS) and genomic risk in Coronary Artery Disease (CAD): background and evidence-based limitations — PRS demonstrate associations with coronary and cardiovascular events in multiple cohort studies, particularly at extreme risk percentiles, but substantial limitations prevent routine clinical implementation.

Limitations and transferability: significant limits include poor capture of rare variants, limited transferability across ancestries (performance substantially lower in non-European groups), lack of standardized marker sets or calculation methods, and potential for unequal benefit and other harms (misinterpretation, access, discrimination).

Evidence statements and AHA stance: the AHA and related statements note that PRS can identify individuals at higher relative risk (extreme scores) but that clinical actionability and impact on outcomes remain undetermined; randomized trials and health economic analyses are needed. Modeling studies suggest modest incremental predictive improvement (e.g., small increases in C-index) and that targeted use in intermediate-risk individuals might prevent additional events, but broad population screening yields limited absolute benefit.

Clinical use: expert statements and guideline reviews conclude that PRS and other genomic risk profiles for CAD are debated and not commonly used clinically; therefore PRS are considered insufficient evidence for routine clinical use in risk stratification at present.

PRS / genomic risk score metrics

C-index improvement with PRSC-index increased by 0.012 (95% CI 0.009–0.015) when PRS added to conventional risk model (Sun et al. 2021)

Applicable Codes

Relevant CPT/PLA/HCPCS and molecular codes referencedmixed

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.
0439U	Cardiology (coronary heart disease [CHD]), DNA, analysis of 5 single-nucleotide polymorphisms 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 SNPs and 6 DNA methylation markers, 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 (564,856 SNPs), targeted variant genotyping, patient lifestyle and clinical data, buccal swab, algorithm reported as polygenic risk to acquired heart disease.
0617U	Cardiovascular (atherosclerotic cardiovascular disease [ASCVD]), DNA methylation analysis of more than 20,000 sites. (Note: 0617U added per 04/01/2026 revision.)

Genes referenced in policymixed

ANK2	Ankyrin 2 — associated with cardiac arrhythmia syndromes.
CASQ2	Calsequestrin 2 — associated with catecholaminergic polymorphic ventricular tachycardia (CPVT).
CAV3	Caveolin 3 — associated with cardiac ion channel function and cardiomyopathy risk.
KCNE1	Potassium voltage-gated channel subfamily E member 1 — long QT syndrome related.
KCNE2	Potassium voltage-gated channel subfamily E member 2 — arrhythmia-associated.
KCNH2	Potassium voltage-gated channel subfamily H member 2 — LQTS2 gene.
KCNJ2	Potassium inwardly-rectifying channel subfamily J member 2 — associated with Andersen-Tawil syndrome and arrhythmia.
KCNQ1	Potassium voltage-gated channel subfamily Q member 1 — LQTS1 gene.
RYR2	Ryanodine receptor 2 — associated with CPVT and arrhythmogenic pathology.
SCN5A	Sodium voltage-gated channel alpha subunit 5 — Brugada syndrome and other arrhythmias.

Genes recommended / cited as definitive/strong for testingmixedCovered

KCNQ1	Definitive/strong evidence for testing in congenital long QT syndrome.
KCNH2	Definitive/strong evidence for testing in congenital long QT syndrome.
SCN5A	Definitive/strong evidence for testing in Brugada syndrome and related arrhythmias.
RYR2	Definitive/strong evidence for testing in catecholaminergic polymorphic ventricular tachycardia (CPVT).
CASQ2	Strong evidence for testing in CPVT when clinical features suggestive.

Updated Applicable CPT / Proprietary Codesmixed

0617U

Cardiovascular (atherosclerotic cardiovascular disease [ASCVD]), DNA methylation analysis of more than 20,000 sites. Added per 04/01/2026 revision.

Provider Actions and Documentation Requirements

Required documentation / prior authorization callouts

Denial-risk / billing rules and policy application notes

Evidence Highlights and Definitions

Evidence summary supporting coverage stance and utility: the evidence base includes diagnostic yields, detection rates, prevalence estimates, and curated gene-validity assessments that inform where multi-gene testing is medically necessary versus unproven.

Diagnostic yields and detection rates: for LQTS, genetic variants are identified in approximately 72%–80% of clinically diagnosed individuals; arrhythmia panel studies report overall variant detection with substantial VUS rates (arrhythmia panels: ~34.8% VUS, 4.2% likely, 4.6% pathogenic in Van Lint et al.). HCM detection varies by cohort and age: meta-analyses report sarcomere variant prevalence ~34% in HCM cohorts, higher detection in pediatric cohorts (56%) versus adults (42%), and pooled penetrance estimates in relatives around 57% (family studies) with ~15% phenotypic conversion over ~8 years. In broad referral HCM testing (Hathaway et al.) diagnostic yield was ~26.8% with sarcomeric genes comprising ~85% of diagnostic variants.

Prevalence and gene-specific findings: DCM has a median genetic prevalence ~20.2% overall; TTN truncating variants account for ~11.4% of DCM cases (Myers 2024). ClinGen aortopathy curation identified 9 definitive HTAAD genes and additional strong/moderate evidence genes, informing HTAD panel composition and clinical actionability. Detection rates in targeted aortopathy panels vary (e.g., 37% P/LP in a Chinese aortopathy panel, Yang et al.).

Key literature and examples informing policy: high-impact studies and reviews referenced include Khera et al. demonstrating lifestyle can attenuate high genomic risk for CHD, AHA scientific statements and guideline documents cautioning limited PRS clinical utility, the PRE-DETERMINE GPSCAD example showing top-decile PRS associated with higher absolute sudden death risk, and ClinGen/Renard et al. aortopathy gene curation guiding HTAD gene lists; these inform the policy distinction between well-supported panels for specific inherited diseases and unproven CAD genomic profiling.

Term	Definition
First-Degree Relative	Parents, siblings, and offspring (NCCN, 2025).
Second-Degree Relative	Half-brothers/sisters, aunts/uncles, grandparents, grandchildren, and nieces/nephews affected on the same side of the family (NCCN, 2025).
Multi-Gene Panel	Genetic tests that use next-generation sequencing to test multiple genes simultaneously; also called multiple gene panel (NCI Dictionary, 2025).
Schwartz Score	Diagnostic criteria for LQTS divided into three categories with max score 9; scoring thresholds: ≤1.0 low, 1.5-3.0 intermediate, ≥3.5 high probability.
P/LP	Pathogenic / Likely Pathogenic variant
VUS	Variant of Uncertain Significance
Index case / proband	The first affected family member who seeks medical attention for a genetic disorder
LP/P	Likely pathogenic / pathogenic genetic variant
VUS	Variant of uncertain significance
PRS	Polygenic risk score — composite genomic risk score derived from multiple SNPs.
HTAD / HTAAD / TAAD	Heritable thoracic aortic disease / heritable thoracic aortic aneurysm and dissection / thoracic aortic aneurysm and dissection

Not Medically Necessary / Experimental Tests

Not Medically Necessary / Exclusions

Not Medically Necessary / Exclusions (ONE of): All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease is unproven and not medically necessary due to insufficient evidence of efficacy

Except chromosome microarray analysis for isolated severe congenital heart disease

Genetic testing for coronary artery disease (CAD) is unproven and not medically necessary

Includes gene expression tests, microarray or other genetic profiles for cardiac disease risk (e.g., Cardiac DNA Insight, Cardiac Healthy Weight DNA Insight, Cardio IQ gene tests and panels)

Revision History

04/01/2026material changeLatest

Updated applicable CPT/proprietary codes: added 0617U; archived previous policy version 2026T0552BB as part of the 04/01/2026 revision.

04/01/2026detailLatest

Added CPT/proprietary code 0617U (Cardiovascular (ASCVD) DNA methylation analysis of more than 20,000 sites, whole blood, algorithm reported as positive or negative risk) to the list of applicable codes.

04/01/2026archival

Policy Summary

PayerColorado Rocky Mountain Health Plans

PolicyGenetic Testing for Cardiac Disease – Commercial and Individual Exchange Medical Policy

Policy CodePolicy 2026T0552CC

Change TypeCode addition / administrative update

Effective DateApr 1, 2026

Next Review Date

Key ActionEnsure genetic testing is driven by documented clinical phenotype and perform pre-test genetic counseling prior to ordering.

SourceLink

On This Page

T wave abnormalities on ECG suggestive of LQTS (e.g., torsades de pointes, T wave alternans, or notched T wave in 3 leads).

Profound congenital bilateral sensorineural hearing loss and prolonged QTc.

Schwartz Score ≥ 1.5 points.

Short QT syndrome (SQTS).

Inherited Cardiomyopathies

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
- Individual has cardiac conduction disease (first-, second-, or third-degree atrioventricular block).
- Sudden cardiac death in a first- or second-degree relative at age 45 years or younger.
Hypertrophic cardiomyopathy (HCM) without an identifiable cause (e.g., valvular disease, hypertension, infiltrative or neuromuscular disorder).
Left ventricular noncompaction cardiomyopathy (LVNC).

Inherited Thoracic Aortic Disease

Individual has confirmed thoracic aortic disease.
Thoracic aortic disease is suspected based on family history of thoracic aortic disease in a first- or second-degree relative.

Testing Based Only On Family History

Asymptomatic individual who has a first-degree or second-degree relative with one of the following conditions: ARVD/C; Brugada syndrome; CPVT; congenital LQTS; familial DCM; HCM; LVNC; or SQTS.
A first-degree relative experienced sudden cardiac death or near sudden death at age 45 years or younger.

Not Medically Necessary / Exclusions

All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease is unproven and not medically necessary due to insufficient evidence of efficacy (this does not apply to chromosome microarray analysis for isolated severe congenital heart disease).
Genetic testing for coronary artery disease (CAD), including gene expression tests, microarray or other genetic profiles for cardiac disease risk (e.g., Cardiac DNA Insight®, Cardiac Healthy Weight DNA Insight®, Cardio IQ® gene tests and panels), is unproven and not medically necessary.

Family/relatives

Variant-specific genetic testing is recommended for family members and appropriate relatives following identification of a disease-causative variant
Predictive genetic testing in related children at risk of inheriting a P/LP variant is recommended from birth onward (any age)

Brugada syndrome (BrS)

Covered when criteria below are met:

Index case diagnosed with BrS with a type I ECG in standard or high precordial leads occurring either spontaneously or induced by sodium-channel blockade with supporting clinical features or family historytype I ECG

Genetic testing with sequencing of SCN5A is recommended

Family/relatives

Variant-specific testing recommended for family members and appropriate relatives following identification of a disease-causative variant
Predictive genetic testing of pathogenic SCN5A variants in related children is recommended from birth onward (any age)

Rare variants in genes with disputed or refuted gene-disease validity should not be reported routinely for BrS genetic testing in a diagnostic setting

Targeted sequencing of VUS in SCN5A with population allele frequency < 1 x 10^-5 may be considered concurrently with phenotyping for family members (after genetic counseling) to assess co-segregationallele frequency < 1 x 10^-5

Short QT syndrome (SQTS)

Covered when criteria below are met:

Index patient satisfying diagnostic criteria for SQTS (such as Class 1 clinical diagnosis or SQTS diagnostic score > 4)SQTS diagnostic score > 4

Molecular genetic testing recommended for definitive disease-associated genes KCNH2 and KCNQ1

Testing of KCNJ2 and SLC4A3 may be performed in index patients in whom a cardiologist has established with high probability a diagnosis of SQTS (based on clinical history, family history, ECG, Holter, exercise stress test; SQTS diagnostic score >= 4)SQTS diagnostic score >= 4

Family/relatives

Variant-specific genetic testing recommended for family members and appropriate relatives following identification of a disease-causative variant
Predictive genetic testing in related children may be considered in specific settings

Inherited atrial fibrillation (Inherited AF)

Covered when criteria below are met:

Index patients with familial (young = age < 60) AF established by clinical history, family history, and ECG characteristicsage < 60 for familial AF

Analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants may be performed

Family/relatives

Variant-specific genetic testing may be recommended for family members and appropriate relatives following identification of a disease-causative variant
Predictive genetic testing in related children may be considered in specific settings

Hypertrophic cardiomyopathy (HCM)

Covered when criteria below are met:

Clinical diagnosis of HCM (non-dilated left ventricle with wall thickness of 13-15 mm or more in adults) or other diagnostic criteria per cardiology evaluationwall thickness >= 13-15 mm

Genetic testing of probands is helpful to determine genetic basis and aid cascade testing; initial gene testing should include genes with strong evidence: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC1

Genetic counseling by qualified experts is recommended for all individuals with HCM

When HCM presents atypically or another genetic condition is suspected, genetic testing for HCM along with other causes of unexplained hypertrophy is recommended

Both clinical screening and cascade testing should be offered to relatives when a P/LP variant is identified in the proband

Postmortem genetic testing is helpful when sudden unexplained death has a postmortem diagnosis of HCM

Serial re-evaluation of variant clinical significance (variant reclassification) is recommended

Cascade testing is not useful when proband testing revealed no pathogenic variants (COR 3/No benefit); ongoing clinical screening in genotype-negative relatives is not indicated unless variant downgraded

Arrhythmogenic cardiomyopathy (ACM)/ARVC

Covered when criteria below are met:

Clinical evaluation using ITF/2010 modified diagnostic criteria (ECG, imaging, arrhythmia documentation, family history) to establish ARVC/D

Genetic testing to identify LP/P variant is a major diagnostic criterion and may be required in ALVC

Genetic testing useful for confirmatory testing of index cases to facilitate interpretation of borderline investigations and cascade screening of families

Consider testing of common ARVC genes: DSC2, DSG2, DSP, JUP, PKP2, TMEM43; other implicated genes include CTNNA3, DES, LMNA, PLN, RYR2, TGFB3, TTN

Familial dilated cardiomyopathy (DCM)

Covered when criteria below are met:

Clinical diagnosis of DCM (enlarged, weakened heart muscle) or familial DCM suspicion

Genetic testing is recommended as Class I for probands with confirmed cardiomyopathies/channelopathies and in at-risk family members

Genetic testing is recommended even in diagnosed patients with no family history (to detect de novo mutations, incomplete penetrance, or incomplete family information)

Predictive genetic testing appropriate for asymptomatic at-risk individuals with a first- or second-degree relative harboring an identified mutation (to guide surveillance)

Specific genes with notable prevalence: TTN truncating variants (~20% familial DCM), DES, LMNA, SCN5A, MYH7; panels may include the 12 strong-association genes identified by Mazzarotto et al.

In LMNA mutation carriers, consideration of ICD placement may be indicated

Left ventricular noncompaction (LVNC)/NCCM

Covered when criteria below are met:

Clinical diagnosis of LVNC/NCCM by imaging and clinical assessment

Genetic testing may aid in diagnosis and prognosis; common genes include MYH7, MYBPC3, TTN, ACTC1

Genetic diagnosis may help predict outcomes; MYH7 and ACTC1 mutations associated with lower risk of MACE than MYBPC3 and TTN

Testing utility and management should be modified according to age at presentation (children have higher rates of severe outcomes and different genetic causes)

Implementation notes and recommendation levels: these society statements emphasize phenotype-driven testing, family history and three-generation pedigree collection prior to testing, selection of an appropriate testing modality (targeted single-gene, panel, exome/genome), and use of variant-specific testing for cascade screening; recommendation classes/levels (e.g., ACC/AHA COR/LOE) are cited where provided.

Inherited Thoracic Aortic Disease (HTAD) testing recommendations

Guideline-based recommendations summarized; treat as conditional clinical guidance (recommendation levels reported where present).

HTAD - guideline summary: Obtain multigenerational family history for individuals with aortic root/ascending aortic aneurysms or aortic dissection, unexplained sudden deaths, and peripheral/intracranial aneurysms.

For individuals with aortic root/ascending aneurysms or dissection and risk factors for HTAD, genetic testing to identify P/LP variants should be performed (ACC/AHA 2022).

For individuals with established P/LP variant in HTAD gene, provide genetic counseling and manage clinical care guided by specific gene/variant; cascade testing of at-risk biological relatives should be performed.

Definitive/Strong HTAD genes: ClinGen Aortopathy Working Group identified genes with definitive causation for HTAAD: ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2. Additional genes categorized as strong: PRKG1, LOX.

PRE-DETERMINE GPSCAD top-decile exampleTop decile GPSCAD absolute sudden death risk 8.0% vs 4.8% for remainder (PRE-DETERMINE)

PRS clinical evidence summaryMultiple studies show PRS association with CHD but limited incremental predictive value and transferability; clinical utility remains insufficient for routine use

Previous policy version 2026T0552BB archived as supporting information for the 04/01/2026 revision.