CurrentUnitedHealthcarePolicy CS048.V

Genetic Testing Cardiac Disease Cs

Defines medical necessity criteria for multi-gene panel genetic testing for inherited arrhythmias, cardiomyopathies, thoracic aortic disease, and testing based on family history; excludes certain states and declares other cardiac genetic tests (including many CAD genetic tests) as not medically necessary.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing Cardiac Disease Cs

Policy CodePolicy CS048.V

Change TypeAdded applicable CPT code (0617U)

Effective DateMay 1, 2026

Next Review Date

Key ActionProvide required medical documentation and pre-test genetic counseling and, when appropriate, order variant-specific testing for relatives rather than a large panel.

SourceLink

POLICY UPDATE CHANGES

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

9Covered Indications (listed conditions and family-history scenarios)

1Policy Version (CS048.V)

MultipleApplicable procedure codes listed

11HTAD genes with strong/definitive evidence noted

Proportion of HTAD families without detectable genetic variant

Coverage Summary

Policy CS048.V (Effective May 1, 2026) is CURRENT and addresses medical necessity criteria for multi-gene panel genetic testing for inherited cardiac disease. The subject is genetic testing for cardiac disease (multi-gene panels and related tests) and the policy defines covered indications, required documentation, and tests considered unproven/not medically necessary.

Covered indications include multi-gene panels (generally panels or microarray profiles with five or more genes) for inherited arrhythmias (e.g., Brugada syndrome, CPVT, familial long QT syndrome, short QT syndrome), inherited cardiomyopathies (e.g., HCM, DCM, ARVD/C, LVNC), inherited thoracic aortic disease (HTAD), and testing in asymptomatic individuals with a first- or second-degree relative affected by these conditions (cascade/family-history testing).

High-level exclusions include genetic testing approaches for coronary artery disease (CAD) — including gene expression tests, microarray or other genetic profiles and many genomic risk/PRS assays — which the policy declares unproven and not medically necessary. Chromosome microarray analysis for isolated severe congenital heart disease is noted separately. The policy lists applicable procedure codes and was updated to add CPT/proprietary code 0617U in the revision history.

Quick policy thresholds and representative gene counts

Policy VersionCS048.V

Effective Date2026-05-01

Covered Indications Count9

Proportion HTAD families without detected variant70%

Representative HCM initial-tier gene count8 listed (MYH7, MYBPC3, TNNI3, TPM1, MYL2, MYL3, ACTC1, TNNT2)

Representative DCM initial-tier gene count>=12 listed (e.g., BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP)

Medical-Necessity Criteria (by condition)

Coding (applicable codes and gene lists)

Relevant proprietary/procedure codes listed (reference only)mixed

0237U	Cardiac ion channelopathies genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
0401U	Cardiology (CHD), 9 genes targeted variant genotyping, algorithm reported as genetic risk score for coronary event
0439U	Cardiology (CHD), DNA, analysis of 5 SNPs and 3 DNA methylation markers, algorithm reported as 4-tiered risk score for 3-year symptomatic CHD
0440U	Cardiology (CHD), DNA, analysis of 10 SNPs and 6 DNA methylation markers, algorithm reported as detected/not detected for CHD
0466U	Cardiology (CAD), DNA, GWAS (564,856 SNPs), algorithm reported as polygenic risk to acquired heart disease
81410	Aortic dysfunction/dilation genomic sequence analysis panel, must include sequencing of at least 9 genes (e.g., FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, MYLK)
81411	Aortic dysfunction/dilation duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, COL3A1
81413	Cardiac ion channelopathies genomic sequence analysis panel, must include sequencing of at least 10 genes including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
81414	Cardiac ion channelopathies duplication/deletion gene analysis panel, must include analysis of at least 2 genes including KCNH2 and KCNQ1
81439	Hereditary cardiomyopathy genomic sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-related genes (e.g., DSG2, MYBPC3, MYH7, PKP2, TTN)

1–10 of 12

1/2

Genes listed for HCM initial tier (definitive/strong)mixed

MYH7	beta-myosin heavy chain
MYBPC3	myosin binding protein C
TNNI3	troponin I
TPM1	tropomyosin 1
MYL2	myosin light chain 2
MYL3	myosin light chain 3
ACTC1	cardiac actin
TNNT2	cardiac troponin T

HCM moderate-evidence genesmixed

CSRP3	cysteine and glycine-rich protein 3
TNNC1	cardiac troponin C
JPH2	junctophilin 2

ACM first-tier genes (definitive)mixed

PKP2	plakophilin 2
DSP	desmoplakin
DSG2	desmoglein 2
DSC2	desmocollin 2
JUP	junction plakoglobin
TMEM43	transmembrane protein 43
PLN	phospholamban
FLNC	filamin C
DES	desmin
LMNA	lamin A/C

DCM initial-tier genes (definitive/strong)mixed

BAG3	BCL2-associated athanogene 3
DES	desmin
FLNC	filamin C
LMNA	lamin A/C
MYH7	beta-myosin heavy chain
PLN	phospholamban
RBM20	RNA binding motif protein 20
SCN5A	sodium channel, voltage gated, type V alpha subunit
TNNC1	cardiac troponin C
TNNT2	cardiac troponin T

1–10 of 12

1/2

DCM moderate-evidence genesmixed

ACTC1	cardiac actin
ACTN2	alpha-actinin 2
JPH2	junctophilin 2
NEXN	nexilin
TNNI3	troponin I
TPM1	tropomyosin 1
VCL	vinculin

HTAD genes with definitive/strong evidencemixed

ACTA2	actin, alpha 2, smooth muscle
COL3A1	collagen type III alpha 1
FBN1	fibrillin 1
MYH11	myosin heavy chain 11
MYLK	myosin light chain kinase
SMAD3	SMAD family member 3
TGFB2	transforming growth factor beta 2
TGFBR1	transforming growth factor beta receptor 1
TGFBR2	transforming growth factor beta receptor 2
PRKG1	protein kinase, cGMP-dependent, type I

1–10 of 11

1/2

Additional HTAD/related genes notedmixed

EFEMP2	EGF containing fibulin extracellular matrix protein 2
ELN	elastin
FBN2	fibrillin 2
FLNA	filamin A
NOTCH1	notch receptor 1
SLC2A10	solute carrier family 2 member 10
SMAD4	SMAD family member 4
SKI	SKI proto-oncogene
GATA4	GATA binding protein 4
DSCAM	DS cell adhesion molecule

Provider Actions and Operational Requirements

Documentation Required

Medical records documentation may be required

Medical records documentation may be required to substantiate that the member meets clinical criteria for genetic testing coverage. Documentation should include relevant clinical findings, diagnostic test results (e.g., ECG, echocardiogram, Holter monitoring), family history with ages at diagnosis or sudden death, and any prior genetic testing results. Submission of this information may be requested during claims review and does not guarantee coverage.

Include ECG, echocardiogram, Holter or exercise testing results when relevant
Provide detailed pedigree with relationship and ages at diagnosis or sudden/unexplained death
Attach prior genetic test reports if available

Prior Authorization

Pre-test genetic counseling recommended

Background, Evidence Summary, and Definitions

Genetic testing technologies described include chromosome microarray analysis (CMA), next-generation sequencing (NGS), and tests that assess gene products such as gene expression arrays and microRNA analysis. The number of genes evaluated can range from single-gene tests to exome/genome sequencing.

This policy specifically addresses genetic test panels or microarray profiles that evaluate five or more genes for cardiac-related syndromes and for certain coronary artery disease risk or monitoring tests. Laboratories performing cardiac genetic testing must be CLIA-regulated; FDA clearance/approval is informational and not by itself a basis for coverage.

Cardiomyopathies that present primarily as neuromuscular disorders and their related genetic testing are excluded from this policy and are covered under a separate Medical Policy titled Genetic Testing for Neurological Disorders.

Evidence item	Summary / value
Genetic testing yield for LQTS
Approximately 72%–80% identification of a genetic variant in clinically diagnosed individuals; PPV ~70%–80%
Panel detection rates (Van Lint et al.)
Arrhythmia panels: VUS/likely/certain 34.8% / 4.2% / 4.6%; cardiomyopathy panels: 40.8% / 7.9% / 12%; overall variant detection: arrhythmia 44%, cardiomyopathy 61%
HCM detection/penetrance (Topriceanu et al. 2024)
Non-proband relative penetrance ~57% (95% CI 52–63%); pooled phenotypic conversion ~15% over ~8 years
HCM detection rate (Christian et al. 2022)
Higher detection in pediatric cohorts (56%) vs adults (42%); adult penetrance ~62%
HCM diagnostic yield (Hathaway et al. 2021)
Diagnostic variants 26.8% (369/1,376); sarcomeric genes 85% of diagnostic variants
DCM genetic prevalence (Myers et al. 2024)
Median genetic DCM prevalence 20.2%; TTN-associated 11.4%; MYH7-associated 3.2%
ClinGen HTAAD curation
ClinGen: 9 of 53 genes definitive for HTAAD; 2 strong; 4 moderate; 15 limited; 23 no evidence
TAAD panel detection rates (Overwater et al.; Yang et al.)
Overwater: P/LP in 66/810 (8%), six CNVs not detectable by NGS; Yang et al. Chinese panel: P/LP in 92/248 (37%), majority FBN1
PRE-DETERMINE GPSCAD top decile
Top decile absolute sudden death risk 8.0% vs 4.8%
UK Biobank PRS incremental C-index
Addition of PRS to conventional predictors improved C-index by +0.012
AHA / PRS and CAD statements
AHA: insufficient evidence for routine use of direct-to-consumer genetic tests; PRS show promise but have limitations (lack rare variants, poor transferability); recommend trials and standards development

First-Degree Relative: Parents, siblings, and offspring (as defined by NCCN).

Second-Degree Relative: Half-brothers/sisters, aunts/uncles, grandparents, grandchildren, and nieces/nephews on the same side of the family.

Multi-Gene Panel: Genetic tests using next-generation sequencing to test multiple genes simultaneously (also called multiple gene panels).

Schwartz Score: Diagnostic scoring system for long QT syndrome; scoring thresholds: ≤ 1.0 = low probability, 1.5–3.0 = intermediate probability, and ≥ 3.5 = high probability; component criteria and point assignments are specified in the policy.

P/LP: Pathogenic or likely pathogenic variant.

VUS: Variant of uncertain significance.

Clinical Thresholds and Testing Parameters

Clinical thresholds and testing triggers

Prolonged QTc (LQTS) threshold> 460 ms (on exercise/ambulatory ECG, Holter, or pharmacologic provocation)

Schwartz Score diagnostic ranges≤1.0 low; 1.5-3.0 intermediate; ≥3.5 high (Schwartz score ≥1.5 listed as criterion)

Diagnostic QTc by sex> 470 ms (males) or > 480 ms (females)

CPVT diagnostic score (definite)> 3.5 (definite); score ≥2 but <3.5 = modest phenotype (testing may be considered)

Brugada Syndrome ECG criterionType I ECG (spontaneous or induced by sodium-channel blockade)

Short QT Syndrome (SQTS) diagnostic score> 4 (definite); ≥4 indicates high probability

Revision History

2026-05-01Policy updateLatest

Added CPT code 0617U to the list of applicable CPT codes (Applicable Codes section updated to reflect quarterly edits; 0617U described as: Cardiovascular (ASCVD), DNA methylation analysis of >20,000 sites, algorithm reported as positive/negative risk). This change was recorded in the Policy History/Revision Information (05/01/2026).

2026-05-01Policy updateLatest

Effective date for policy version CS048.V: May 1, 2026 (document header indicates Policy Number CS048.V, Effective Date: May 1, 2026).

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing Cardiac Disease Cs

Policy CodePolicy CS048.V

Change TypeAdded applicable CPT code (0617U)

Effective DateMay 1, 2026

Next Review Date

Key ActionProvide required medical documentation and pre-test genetic counseling and, when appropriate, order variant-specific testing for relatives rather than a large panel.

SourceLink

On This Page

Pre-test genetic counseling is strongly recommended to ensure individuals understand the potential benefits, limitations, and implications of genetic testing for inherited arrhythmias, cardiomyopathies, and thoracic aortic disease. Counseling should cover possible outcomes (positive, negative, VUS), implications for relatives, reproductive considerations, and potential psychosocial or insurance implications.

Document that pre-test counseling occurred and was provided by a qualified professional (e.g., genetic counselor, clinical geneticist, or other trained provider)
Counseling note should include informed consent discussion and summary of topics covered

Documentation Required

Establish diagnostic probability prior to testing

Establish diagnostic probability prior to testing by documenting clinical criteria or probability scores (e.g., Schwartz Score for LQTS) and excluding acquired causes when appropriate. Testing decisions should be based on phenotype and pre-test probability to guide appropriate panel selection and interpretation.

Record pre-test probability assessments (e.g., Schwartz Score, QTc measurements)
Document exclusion of reversible or acquired causes of the phenotype when applicable

Prior Authorization

Variant-specific testing for relatives after proband result

Variant-specific cascade testing for at-risk relatives is preferred after a pathogenic or likely pathogenic variant is identified in a proband. Targeted testing of the known familial variant is clinically appropriate and generally less costly than broad panel testing for relatives.

Provide the proband’s test report with the identified pathogenic/likely pathogenic variant when requesting family member testing
Use variant-specific testing CPT codes when applicable

Documentation Required

Genetic counseling requirement

Genetic counseling is required to accompany testing and to interpret results for clinical management and familial risk assessment. Counseling should be documented in the medical record both before testing (pre-test) and after results are returned (post-test) to ensure appropriate follow-up and cascade testing recommendations.

Document post-test counseling that explains result interpretation, management implications, and recommendations for relatives
Reference to specialist referral when complex results or uncertain findings (VUS) are encountered

Documentation Required

Phenotype-driven testing

Phenotype-driven testing should be used to select the most appropriate genetic test (e.g., targeted gene panels specific to HCM, DCM, ARVD/C, LQTS, Brugada, CPVT, or HTAD) rather than broad or non-specific testing when a clear clinical diagnosis or strong phenotype exists.

Select panels that match the clinical phenotype to maximize diagnostic yield and minimize incidental findings
Document the rationale for panel selection in the medical record

Billing Rule

Use targeted gene lists for initial HCM proband testing

Use targeted gene lists for initial HCM proband testing: when testing a proband with hypertrophic cardiomyopathy, initial testing should focus on established HCM-associated genes to maximize diagnostic utility. Broader or reflex testing may be considered if initial targeted testing is non-diagnostic and clinical suspicion remains high.

Order HCM panels that include core sarcomeric genes (e.g., MYH7, MYBPC3, TNNT2, TNNI3, TPM1, etc.)
Document clinical indication and phenotype supporting HCM-focused testing

Documentation Required

Family history/pedigree

Provide a detailed family history/pedigree that includes at least three generations when available. A pedigree helps assess inheritance patterns and informs testing strategy for probands and at-risk relatives.

Include ages at diagnosis or death and cause of death when known
Note presence of sudden cardiac death, pacemaker/ICD placement, or early-onset conduction disease

Prior Authorization

Genetic testing for HTAD and cardiomyopathies

Genetic testing for HTAD and cardiomyopathies should be performed when clinical criteria are met (e.g., confirmed or suspected disease in the individual, or appropriate family history). Testing should be tailored to the presentation (thoracic aortic disease vs specific cardiomyopathy) to optimize yield.

HTAD testing indicated for individuals with confirmed thoracic aortic disease or family history of thoracic aortic disease in a first- or second-degree relative
Cardiomyopathy testing indicated for individuals meeting phenotype-based criteria outlined in this policy (e.g., unexplained DCM with conduction disease, HCM without alternate cause, ARVD/C, LVNC when clinically indicated)

Documentation Required

Variant-specific cascade testing

Variant-specific cascade testing: when a proband’s pathogenic or likely pathogenic variant is identified, cascade testing of relatives should target that specific variant. This focused approach reduces uncertainty and cost compared with repeating broad panel testing in relatives.

Attach the proband report noting the variant nomenclature (HGVS or equivalent) with the family member test request
Use targeted testing methodology appropriate to the known variant (sequencing or genotyping)

Documentation Required

Genetic counseling

Genetic counseling must be provided and documented for individuals undergoing testing and for family members receiving cascade testing. Counseling aids result interpretation, risk communication, and decisions about surveillance or interventions.

Document who provided counseling and summaries of recommendations for surveillance or family testing
Include discussion of limitations of testing and possible need for reclassification over time

Denial Risk

Avoid testing in isolated/incidental LVNC

Avoid testing in isolated or incidental left ventricular noncompaction (LVNC) without supporting clinical features or family history, as isolated/incidental LVNC often lacks clear genotype–phenotype correlation and testing may lead to uncertain results.

Refrain from routine genetic testing for LVNC observed incidentally without symptoms, family history, or other cardiomyopathic features
Document clinical justification when testing is pursued for LVNC (e.g., family history of cardiomyopathy, arrhythmia, or sudden death)

Documentation Required

Specialized infant evaluation

Specialized infant evaluation: genetic testing in infants with congenital or early-onset cardiac disease should be guided by a pediatric cardiologist and genetic specialist. Early evaluation may require different testing strategies and consideration of urgent management implications.

Document urgent clinical findings and the rationale for expedited testing when infant presentation is severe
Coordinate testing with pediatric genetics/cardiology for variant interpretation and family counseling

Documentation Required

Refer to federal/state/contractual benefit requirements

Refer to federal, state, or contractual benefit requirements: coverage decisions are determined by applicable laws and contract terms which may mandate coverage for certain services. Providers should verify member-specific benefits and document any state- or contract-mandated coverage that applies.

Check state-specific policies and contractual benefit language prior to testing
Document any mandate or exception that supports coverage

Documentation Required

Laboratory regulatory compliance

Laboratory regulatory compliance: genetic testing must be performed in laboratories that meet applicable regulatory requirements (e.g., CLIA certification). Providers should ensure the laboratory follows validated methods, appropriate quality controls, and reports using standardized nomenclature.

Use CLIA-certified laboratories and document laboratory name and certification when available
Ensure reports include test methodology, genes/gene content, detection limits, and variant classification with interpretation

Proband: The affected individual who is first evaluated in a family for genetic testing.

CLIA: Clinical Laboratory Improvement Amendments — regulation that governs laboratories performing genetic tests.

HCM wall thickness diagnostic threshold

>= 13-15 mm in adults (non-dilated LV)

Predictive genetic testing age threshold (HCM/ACM/DCM/LVNC)> 10-12 years recommended; may consider <10-12 in early-onset families

DCM special consideration (when testing useful)Severe systolic dysfunction: LVEF < 35% (supports genetic testing utility and may affect management)

ICD consideration in cardiomyopathyICD may be considered before LVEF < 35% in certain high-risk arrhythmia scenarios

Aortic diameter surgical consideration (LDS / TGFBR1/TGFBR2)>= 4.2 cm by ultrasound — consider surgical repair; yearly MRI from cerebrovascular circulation to pelvis recommended

Schwartz Score entry criterionSchwartz score ≥1.5 listed as an LQTS criterion for testing (with other ECG findings)