CurrentUnitedHealthcarePolicy CS048TN.U

Genetic Testing Cardiac Disease Tn Cs

Policy governing medical necessity coverage for multi-gene genetic testing and panels for inherited arrhythmias, cardiomyopathies, and thoracic aortic disease for Tennessee Medicaid and CoverKids; includes definitions, diagnostic criteria (e.g., Schwartz score, QTc thresholds), evidence review, and applicable CPT/PLA codes and limitations (exclusions for CAD genetic tests). This is part 1 of 4.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing Cardiac Disease Tn Cs

Policy CodePolicy CS048TN.U

Change TypeAdded CPT/PLA code

Effective DateMay 1, 2026

Next Review Date

Key ActionDocument phenotype and diagnostic criteria and ensure medical record includes history, exam, and pertinent diagnostic test results to support medical necessity.

SourceLink

POLICY UPDATE CHANGES

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

Archived previous policy version CS048TN.T.

3Major arrhythmia indications listed (BrS, CPVT, LQTS)

4Cardiomyopathy indications listed (ARVD/C, DCM, HCM, LVNC)

1Thoracic aortic disease indication

multiplePLA/CPT codes referenced

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57%Penetrance in non-proband relatives (Topriceanu)

1CPT codes added in this update

Coverage Summary

This policy (Policy No. CS048TN.U, effective 2026-05-01) governs medical necessity coverage for multi-gene genetic testing and panels (≥5 genes) for inherited arrhythmias, cardiomyopathies, and heritable thoracic aortic disease for Tennessee Medicaid and CoverKids. The coverage stance is mixed: multi-gene panel testing is supported and considered medically necessary for specified inherited cardiac indications and for at-risk relatives (cascade/predictive testing) when clinical criteria are met, while other genetic tests (notably CAD risk/expression or broad unproven panels) are considered unproven and not medically necessary. The policy includes diagnostic thresholds (e.g., Schwartz score, QTc criteria), definitions, applicable CPT/PLA codes (updated 05/01/2026), documentation and counseling requirements, and specified exclusions.

Key thresholds & quick facts

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

Schwartz Score interpretation≤ 1.0 = low; 1.5-3.0 = intermediate; ≥ 3.5 = high probability of LQTS

Diagnostic QTc (background)> 470 ms (males) or > 480 ms (females) = diagnostic

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

SQTS diagnostic score threshold> 4 = definite (testing for KCNH2/KCNQ1 recommended)

Familial sudden death age thresholdFirst-/Second-degree relative SCD ≤ 45 years (indication for testing in DCM/arrhythmia contexts)

CPT/PLA code updateNewly added code 0617U included in applicable CPT/PLA list (05/01/2026)

Medical Necessity Criteria

Inherited Arrhythmias - When Multi-Gene Panel Testing is Medically Necessary

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

ANY of the following

Brugada syndrome (BrS)
See BrS-specific criteria for gene recommendations
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
See CPVT-specific criteria for gene recommendations
Familial long QT syndrome (LQTS) requirements
- Prolonged QTc (> 460 ms) on exercise or ambulatory ECG, Holter monitoring, or during pharmacologic provocation testing> 460 ms

Coding

Covered / Recommended Panel and Sequencing CPT CodesCPT|HCPCSCovered

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, and SCN5A
81414	Cardiac ion channelopathies duplication/deletion gene analysis panel, must include analysis of at least 2 genes including KCNH2 and KCNQ1
81410	Aortic dysfunction or dilation 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 duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1
81439	Hereditary 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 RT-PCR of 23 genes, algorithm reported as a risk score (listed under applicable codes but CAD genetic tests are not medically necessary)

PLA / Proprietary (referenced)mixed

0237U	Cardiac ion channelopathies genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A, including small sequence changes, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions
0401U	Cardiology (CHD), 9 genes, targeted variant genotyping, algorithm reported as a genetic risk score for a coronary event (example of CAD-related tests)
0439U	Cardiology (CHD), DNA, analysis of 5 SNPs and 3 DNA methylation markers, algorithm reported as 3-year risk of symptomatic CHD
0440U	Cardiology (CHD), DNA, analysis of 10 SNPs and 6 DNA methylation markers, algorithm reported as detected or not detected for CHD
0466U	Cardiology (CAD), DNA, genome-wide association studies (polygenic risk)
0617U	Cardiovascular (ASCVD), DNA methylation analysis of >20,000 sites, algorithm reported as positive or negative risk

Genes Mentioned for Testingmixed

RYR2	CPVT susceptibility gene
CASQ2	CPVT susceptibility gene
CALM1	CPVT susceptibility gene (atypical LQTS/CPVT)
CALM2	CPVT susceptibility gene (atypical LQTS/CPVT)
CALM3	CPVT susceptibility gene (atypical LQTS/CPVT)
TRDN	CPVT susceptibility gene (recessive triadin knockout syndrome)
TECRL	CPVT susceptibility gene (recessive)
KCNJ2	CPVT phenocopy / Andersen-Tawil syndrome gene; optional for SQTS
SCN5A	Brugada syndrome testing; familial AF; CPVT phenocopy consideration; DCM-associated gene
PKP2	CPVT phenocopy / ARVC-associated gene

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Applicable CPT codes (updated)CPT

0617U

Newly added CPT/PLA code (Cardiovascular ASCVD DNA methylation analysis of >20,000 sites) — added to applicable codes effective 2026-05-01

Provider Actions & Requirements

Documentation Required

Medical record documentation required

The patient's medical record must contain documentation that fully supports medical necessity for genetic testing. Required documentation includes the patient's relevant medical history, physical examination findings, and results of pertinent diagnostic tests (e.g., ECG, Holter, imaging, laboratory studies) that demonstrate the phenotype or clinical indication prompting testing. Records should also include family history (see below) and copies or summaries of prior genetic test results when applicable. Documentation must be legible, maintained in the patient's medical record, and made available upon request.

Include detailed medical history, exam findings, and pertinent diagnostic test results (ECG, Holter, imaging, labs).
Document phenotypic features that meet policy criteria for testing.
Provide prior genetic test results and interpretation when available.

Denial Risk

Tests for CAD and unspecified genetic tests are not covered

Background & Evidence Summary

Background: The policy addresses technologies including chromosome microarray analysis (CMA), next-generation sequencing (NGS), and gene expression/methylation assays, and applies to panels of five or more genes. It reviews clinical features and prevalence across inherited cardiac disorders (LQTS, CPVT, BrS, SQTS, AF), summarizes gene–disease relationships, and notes variable diagnostic yield and limitations (e.g., lower yield in BrS, rarity of SQTS, incomplete sensitivity of ECG criteria for LQTS, and variable penetrance). Evidence-based gene curation and guideline statements from ACC/AHA/HRS and EHRA/HRS/APHRS/LAHRS endorse phenotype-driven, targeted testing and variant-specific cascade testing in families while cautioning against routine use of genes with disputed validity and against broad unvalidated CAD genetic testing.

Evidence Item	Key Finding
Detection rates - arrhythmia vs cardiomyopathy panels (Van Lint 2019)	Arrhythmia panels: 34.8% VUS, 4.2% likely, 4.6% pathogenic; cardiomyopathy panels: 40.8% VUS, 7.9% likely, 12% pathogenic; overall variant detection higher with larger panels
Genetic testing PPV for LQTS	70-80% positive predictive value vs ECG/family history; genetic variant identified in ~72-80% of clinical LQTS cases
CPVT prevalence and diagnostic yield	Prevalence 1 in 7,000–10,000; RYR2 accounts for majority; clinical sensitivity for 3-gene card estimated 50–75%
EHRA/HRS/APHRS/LAHRS guidance — LQTS	Offer molecular testing for definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1-3) for high probability cases (Schwartz ≥3.5); variant-specific and predictive testing for relatives from birth recommended
EHRA/HRS/APHRS/LAHRS guidance — CPVT	Recommend testing RYR2, CASQ2, CALM1-3, TRDN, TECRL for diagnostic CPVT (score >3.5); consider phenocopy genes (KCNJ2, SCN5A, PKP2) if negative; predictive testing for children from birth recommended
EHRA/HRS/APHRS/LAHRS guidance — BrS	Recommend SCN5A sequencing for index cases with type I ECG (spontaneous or drug-induced) with supporting features; avoid reporting variants in genes with disputed validity; variant-specific testing for relatives recommended
EHRA/HRS/APHRS/LAHRS guidance — SQTS	For definitive SQTS (score >4) recommend testing KCNH2 and KCNQ1; KCNJ2 and SLC4A3 may be tested in high probability cases; variant-specific family testing recommended
Phenotype-driven testing principle (EHRA/HRS/other consensus)	Genetic testing should be driven by phenotype and diagnostic pre-test probability; diagnostic ECG/score is determinant of testing utility; cascade testing useful when proband mutation identified

Prevalence & penetrance metrics

Penetrance (non‑proband relatives, pooled)57% (Topriceanu meta-analysis; 95% CI 52–63%)

HCM detection rate — pediatric vs adultPediatric 56% vs Adult 42% (Christian et al. 2022) — adult penetrance ~62%

DCM median genetic prevalence (overall)20.2% median genetic DCM prevalence; TTN-associated 11.4%; MYH7 3.2% (Myers et al. 2024)

Definitions

Definitions:

First-Degree Relative: Parents, siblings, and offspring.

Second-Degree Relative: Half-siblings, aunts/uncles, grandparents, grandchildren, 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 panel).

Schwartz Score: Diagnostic scoring system for LQTS (maximum score 9; interpretation categories provided in policy).

P/LP: Pathogenic or likely pathogenic genetic variant.

VUS: Variant of uncertain significance.

Cascade testing: Testing family members for a known pathogenic variant identified in a proband (variant-specific testing).

PRS (Polygenic Risk Score): A score derived from multiple genetic variants (SNPs) to estimate genetic predisposition to diseases such as CAD.

HTAD: Heritable thoracic aortic disease.

CLIA: Clinical Laboratory Improvement Amendments — federal regulation for laboratories performing genetic tests.

Additional related terms noted in policy: predictive testing (testing at-risk relatives, including guidance on age for certain conditions), and technologies such as CMA, NGS, and gene expression profiling.

Revision History

2026-05-01material_changeLatest

Added CPT code 0617U to the list of applicable CPT/PLA codes; applicable CPT code set updated to reflect quarterly edits.

2026-05-01archival

Archived previous policy version CS048TN.T as part of the May 1, 2026 update.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing Cardiac Disease Tn Cs

Policy CodePolicy CS048TN.U

Change TypeAdded CPT/PLA code

Effective DateMay 1, 2026

Next Review Date

Key ActionDocument phenotype and diagnostic criteria and ensure medical record includes history, exam, and pertinent diagnostic test results to support medical necessity.

SourceLink

On This Page

Policy QTc threshold

T wave abnormalities on ECG suggestive of LQTS (i.e., Torsade 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>= 1.5 points

Schwartz scoring details in definitions

Short QT syndrome (SQTS)

See SQTS-specific criteria for genes

Inherited Cardiomyopathies - When Multi-Gene Panel Testing is Medically Necessary

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

ANY of the following

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
Dilated cardiomyopathy (DCM) without identifiable cause
- Individual has cardiac conduction disease (first-, second-, or third-degree block)
- Sudden cardiac death in a First- or Second-Degree Relative at age 45 or younger<= 45 years
  Family sudden death threshold
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 - When Multi-Gene Panel Testing is Medically Necessary

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

ANY of the following

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 - When Multi-Gene Panel Testing is Medically Necessary (asymptomatic individuals)

Proven and medically necessary in asymptomatic individuals who have a First-Degree or Second-Degree Relative with one of the following conditions:

ANY of the following

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
Brugada syndrome (BrS)
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Congenital long QT syndrome (LQTS)
Familial dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
Left ventricular noncompaction cardiomyopathy (LVNC)
Short QT syndrome (SQTS)
Family sudden death: A First-Degree Relative experienced sudden cardiac death or near sudden death at age 45 or younger<= 45 years
Family sudden death threshold

Not Medically Necessary / Unproven

Genetic testing not covered due to insufficient evidence:

ANY of the following

All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease not specified above (unproven and not medically necessary)
Genetic testing for coronary artery disease (CAD), including gene expression tests, microarray or other genetic profiles for cardiac disease risk (examples listed)
Examples: Cardiac DNA Insight, Cardio IQ tests, CPT/PLA examples (0401U, 0439U, 0440U, 0466U, 0617U, 81493)

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) testing

Recommendations based on phenotype/diagnostic score

ALL of the following

Definite CPVT: If patient satisfies diagnostic criteria for CPVT (e.g., Class 1 clinical diagnosis or CPVT diagnostic score > 3.5), molecular genetic testing is recommended for RYR2, CASQ2, CALM1, CALM2, CALM3, TRDN, and TECRL.> 3.5
Genes listed per expert consensus
Phenocopies: In phenotype-positive CPVT patients negative for established genes, genetic testing may be considered for CPVT phenocopies in KCNJ2, SCN5A, and PKP2.
Modest phenotype: In patients with modest phenotype (CPVT diagnostic score ≥ 2 but < 3.5), genetic testing may be considered for RYR2, CASQ2, CALM1-3, TRDN, and TECRL.>= 2 and < 3.5
Cascade testing: Variant-specific genetic testing is recommended for family members/appropriate relatives after identification of the disease-causative variant.
Predictive testing in children recommended from birth onward
Predictive testing: Predictive genetic testing in related children at risk of inheriting a P/LP variant is recommended from birth onward (any age).

Brugada Syndrome (BrS) testing

Phenotype-driven testing and reporting guidance

ALL of the following

Index case SCN5A: Genetic testing with sequencing of SCN5A is recommended for an index case diagnosed with BrS with a type I ECG occurring spontaneously or induced by sodium-channel blockade with supporting clinical features or family history.
Reporting guidance: Rare variants in genes with disputed or refuted gene-disease clinical validity should not be reported routinely for BrS genetic testing in a diagnostic setting.
Targeted VUS sequencing in family: Targeted sequencing of VUS in SCN5A with population allele frequency < 1 x 10^-5 identified in an index case can be considered concurrently with phenotyping for family members following genetic counseling to assess pathogenicity via co-segregation analysis.< 1 x 10^-5
Cascade testing: Variant-specific genetic testing is recommended for family members/appropriate relatives after identification of the disease-causative variant.
Predictive testing in children from birth onward
Predictive testing children: Predictive genetic testing (of pathogenic SCN5A variants) in related children is recommended from birth onward (any age).

Short QT Syndrome (SQTS) testing

Diagnostic criteria-driven testing

ALL of the following

Definite SQTS: If patient satisfies diagnostic criteria for SQTS (e.g., Class 1 clinical diagnosis or SQTS diagnostic score > 4), molecular genetic testing is recommended for KCNH2 and KCNQ1.> 4
Conditional genes: Testing of KCNJ2 and SLC4A3 may be performed in index patients where cardiologist establishes high probability diagnosis (SQTS diagnostic score ≥ 4).>= 4
Cascade testing: Variant-specific genetic testing is recommended for family members/appropriate relatives after identification of the disease-causative variant.
Predictive testing children: Predictive genetic testing in related children may be considered in specific settings.

Inherited Atrial Fibrillation (AF) testing

Testing for familial (young) AF

ALL of the following

Analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants may be performed in index patients with familial (young, age < 60) AF based on clinical history, family history, and ECG characteristics.< 60 years
Variant-specific genetic testing may be recommended for family members/appropriate relatives after identification of the disease-causative variant.
Predictive genetic testing in related children may be considered in specific settings.

Hypertrophic Cardiomyopathy (HCM) testing

Guideline recommendations and evidence on prevalence, penetrance, and testing utility

ALL of the following

Family history and counseling: Evaluation of familial inheritance including a three-generation family history is recommended for individuals with HCM as part of the initial assessment.
Genetic counseling recommended for all individuals with HCM
Utility of testing: Genetic testing of individuals with HCM is helpful to determine genetic basis and aid identification of at-risk family members (cascade testing).
Atypical presentation: When HCM presents atypically or another genetic condition is suspected, genetic testing for HCM and other causes of unexplained cardiac hypertrophy is recommended.
Counseling: Genetic counseling by qualified experts is recommended for all individuals with HCM.
Initial gene list: Initial gene testing in proband should include genes with strong evidence at time of guideline publication: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1.
Cascade guidance: Both clinical screening and cascade testing should be offered to relatives when a P/LP variant has been identified in the proband.
Postmortem testing: Postmortem genetic testing is helpful after sudden unexplained death with postmortem HCM diagnosis to assist cascade testing and screening of first-degree relatives.
Variant re-evaluation: Serial re-evaluation of variant clinical significance is recommended in individuals who have undergone genetic testing to evaluate for variant reclassification.
Reproductive counseling: Preconception and prenatal reproductive and genetic counseling should be offered in affected families.
Limits of utility: Genetic testing utility for assessing SCD risk in HCM is uncertain; testing for variant reclassification in phenotype-negative relatives with only VUS is uncertain.

Arrhythmogenic Cardiomyopathy (ACM) / ARVC testing

Role of genetic testing in diagnosis and family screening

ALL of the following

Diagnostic criterion: Identification of a LP/P variant is a major diagnostic criterion for ACM phenotypes and can be required for ALVC diagnosis.
Clinical utility: Genetic testing is useful for confirmatory testing of index cases to facilitate interpretation of borderline investigations and cascade screening of families.

Familial Dilated Cardiomyopathy (DCM) testing

Recommendations and gene-specific prevalence findings

ALL of the following

Class I indication: Genetic testing is recommended as a Class I indication in probands with confirmed cardiomyopathies and channelopathies; recommended in at-risk family members and presymptomatic individuals with strong family history.
No family history: Testing is recommended even in diagnosed patients with no family history because of incomplete penetrance or de novo mutations.
Cascade testing and screening: Cascade testing is recommended for first-degree relatives; first-line cascade screening should include ECG and echocardiography.
Predictive testing and gene-specific actions: Predictive genetic testing appropriate for asymptomatic at-risk individuals with a first- or second-degree relative in whom a mutation has been identified; close monitoring indicated though early treatment not indicated unless gene-specific (e.g., LMNA may prompt ICD consideration).
Gene prevalence findings: Large cohort analyses identified key DCM genes with strong associations including TTN and DSP truncating variants and others (MYH7, LMNA, BAG3, TNNT2, TNNC1, PLN, ACTC1, NEXN, TPM1, VCL).

Left Ventricular Noncompaction (LVNC) testing

Genotype-phenotype correlations and implications

ALL of the following

Clinical utility: Genetic testing may help predict outcomes in LVNC; common implicated genes include MYH7, MYBPC3, TTN, ACTC1.
Genotype-phenotype correlations indicate MYH7 and ACTC1 associated with lower MACE risk than MYBPC3 and TTN; management should be modified according to age at presentation.

Genetic tests and panels specifically intended to assess risk for coronary artery disease (CAD) or unspecified/unsupported genetic tests for cardiac disease are considered unproven and are not covered. Tests that do not have demonstrated clinical utility for diagnosis, management, or family cascade testing will be denied.

Affected codes (not covered for CAD/genetic risk profiling): 0401U, 0439U, 0440U, 0466U, 0617U, 81493

Prior Authorization

Pre-test genetic counseling

Pre-test genetic counseling is strongly recommended and may be required by contract or state rules prior to testing. Counseling should review the benefits, limitations, possible results (positive, negative, VUS), implications for management, and implications for relatives.

Document that pre-test genetic counseling occurred or rationale if counseling was not feasible.
Counseling may be provided by a qualified genetics professional or a clinician with appropriate expertise.

Prior Authorization

Phenotype-driven testing

Testing should be phenotype-driven: order gene or panel tests targeted to the suspected clinical diagnosis, guided by clinical findings, family history, and specialty society recommendations. Broad, untargeted testing without a compatible phenotype is discouraged.

Select tests based on disease-appropriate phenotyping and current clinical guidelines.
Avoid large panels or exome/genome testing unless phenotype is unclear and results would change management.

Documentation Required

Variant re-evaluation

Clinicians should reassess previously identified variants periodically. Variant re-evaluation may be necessary when new evidence becomes available or when family segregation/phenotype information changes the interpretation.

Document any re-evaluation of variants and the date of review.
Reclassification that affects management should be communicated to the patient and care team.

Prior Authorization

Cascade and predictive testing for relatives

Cascade and predictive testing for at-risk relatives is medically appropriate when a pathogenic or likely pathogenic variant has been identified in a proband and the relative's testing would inform management. Variant-specific (targeted) testing for family members is preferred over broad panels.

Cascade testing (variant-specific) for relatives is covered when a known pathogenic/likely pathogenic familial variant is identified.
Predictive testing for asymptomatic relatives is acceptable when results would alter surveillance or treatment.
Document the familial variant and relationship to the proband in the medical record.

Documentation Required

Genetic counseling for cascade testing

Genetic counseling for relatives undergoing cascade testing is recommended to explain implications, inheritance, and recommended follow-up.

Provide or refer for counseling when offering predictive or cascade testing.
Document counseling in the medical record.

Prior Authorization

Cascade (variant-specific) testing for relatives

When a familial variant is known, targeted variant testing (single-variant or limited variant panel) is preferred. Avoid ordering broad multi-gene panels for family members when a specific pathogenic variant is already identified.

Use variant-specific CPT coding for targeted family member testing where available.
Documentation should reference the proband's report and the specific variant to be tested.

Denial Risk

Avoid testing without diagnostic evidence

Do not perform genetic testing in the absence of diagnostic evidence or a compatible phenotype unless part of an approved research program or explicit coverage criteria allowing such testing. Tests performed solely for screening the general population for cardiac genetic risk scores are not supported by this policy.

Testing without diagnostic or family-based indications risks claim denial.
Document clinical rationale if testing is pursued outside standard indications.

Documentation Required

Obtain multigenerational family history

Obtain a multigenerational family history (minimum three generations when feasible) documenting affected relatives, ages at diagnosis or sudden death, and relationship to the proband. This history should be used to guide testing strategy and to identify at-risk relatives.

Include dates/ages of diagnosis or death and relevant cardiac events in the family history.
Document degree of relationship (first-, second-degree) and side of family.

Documentation Required

Disease-appropriate phenotyping

Perform disease-appropriate phenotyping prior to genetic testing. For arrhythmia and cardiomyopathy evaluations this may include ECG, exercise testing, Holter monitoring, echocardiography, cardiac MRI, and other relevant tests depending on suspected disorder.

Document test results that support the clinical diagnosis or suspicion prompting genetic testing.
Phenotyping should align with specialty society guidance for the suspected condition.

Prior Authorization

Referral to expert centers and genetic counseling

Refer patients to specialized centers or genetics professionals when cases are complex, when variants of uncertain significance require interpretation, or when management decisions depend on nuanced genetic information.

Referral and consult notes should be included in the medical record.
Use expert resources for variant interpretation and family risk assessment when needed.

Documentation Required

Ongoing clinical screening guidance

Ongoing clinical screening for at-risk individuals (with a known pathogenic/likely pathogenic variant or strong clinical suspicion) should follow disease-specific surveillance protocols. Testing decisions for asymptomatic relatives should be integrated with recommended clinical surveillance and preventive strategies.

Document the recommended surveillance schedule and who is responsible for follow-up.
Coordinate genetic results with cardiology and primary care for longitudinal management.

Documentation Required

Use clinical judgment and external tools

Use clinical judgment and available external tools (e.g., variant databases, guideline resources, family segregation analysis tools) to interpret test results and to determine the most appropriate testing strategy. When using external algorithms or risk scores, document the rationale and how results will impact management.

Record sources used for variant interpretation (ClinVar, expert panels, published literature).
Document how external tools informed testing choices or interpretation.

Billing Rule

CPT code list maintenance

Maintain and use the current CPT and AMA code set when submitting claims. New and revised codes effective with this policy should be applied as appropriate. Note the addition of CPT code 0617U which becomes effective 2026-05-01 and is considered under the policy's coding guidance.

Codes to note added effective 2026-05-01: 0617U

Arrhythmia vs cardiomyopathy panel detection (Van Lint 2019)

Arrhythmia panels: unknown 34.8%, likely 4.2%, certain 4.6%; Cardiomyopathy panels: unknown 40.8%, likely 7.9%, certain 12%

CPVT prevalence & clinical sensitivityPrevalence 1 in 7,000–10,000; 3-gene card clinical sensitivity ~50–75%; RYR2 accounts for majority

HCM pooled diagnostic yield (broad referral)Hathaway et al. 2021: 369/1,376 (26.8%) diagnostic yield in heterogeneous HCM cohort

TAAD/aortopathy panel detection rangeDetection rates vary: Yang et al. (15-gene) 37% P/LP (mostly FBN1); Overwater et al. (TAAD) 8% P/LP (66/810) with 6 CNVs detected only by non-NGS methods)

Variants in general population / gene validity cautionsClinGen/reevaluations show many previously reported disease genes have limited evidence — use evidence-based gene inclusion