ModifiedUnitedHealthcarePolicy CS048NM.D

Genetic Testing for Cardiac Disease (for New Mexico Only)

Policy governing coverage of multi-gene and other genetic tests for inherited arrhythmias, cardiomyopathies, and thoracic aortic disease for members in New Mexico; describes medically necessary indications and tests considered not medically necessary.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing for Cardiac Disease (for New Mexico Only)

Policy CodePolicy CS048NM.D

Change TypeCodes updatedmaterial revision

Effective DateMay 01, 2026

Next Review DateN/A

Key ActionDocument clinical phenotype, family history, ECG/diagnostic scores (e.g., Schwartz Score) and offer tiered or variant-specific testing per condition before submitting authorization.

SourceLink

POLICY UPDATE CHANGES

Updated list of applicable CPT codes to reflect quarterly edits; added 0617U.

Archived previous policy version CS048NM.C.

CS048NM.Dpolicy identifier

0617Unew CPT code added

May 01 2026revision date

5+ genespanels addressed

≥3.5

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Schwartz Score threshold

Coverage Criteria and Medical Necessity

Medically necessary indications

Covered when ANY of the following groups apply:

Inherited Arrhythmias: Multi-gene panel testing is medically necessary for individuals with a confirmed or suspected diagnosis of Brugada syndrome; CPVT; congenital long QT syndrome when acquired causes have been ruled out and one of the specified ECG/Schwartz criteria are met (prolonged QTc >460 ms on exercise/ambulatory/Holter or during pharmacologic provocation; T-wave abnormalities suggestive of LQTS; profound congenital bilateral sensorineural hearing loss with prolonged QTc; or Schwartz Score ≥1.5); or Short QT syndrome.See text for QTc/Schwartz thresholds

Inherited Cardiomyopathies: Multi-gene panel testing is medically necessary for individuals with a confirmed or suspected diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); dilated cardiomyopathy (DCM) without an identifiable cause when additional criteria are met (e.g., cardiac conduction disease or sudden cardiac death in a first- or second-degree relative ≤45 years); hypertrophic cardiomyopathy (HCM) without an identifiable cause; or left ventricular noncompaction cardiomyopathy (LVNC).See clinical context

Inherited Thoracic Aortic Disease (HTAD): Multi-gene panel testing is medically necessary when the individual has confirmed thoracic aortic disease or when thoracic aortic disease is suspected based on family history in a first- or second-degree relative.

Asymptomatic testing based on family history: Multi-gene panel testing is medically necessary for asymptomatic individuals who have a first- or second-degree relative with one of the listed inherited arrhythmic disorders or cardiomyopathies, 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).

Not medically necessary

Not medically necessary - general: All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease that does not meet the criteria listed above is considered unproven and not medically necessary due to insufficient evidence of efficacy.

Not medically necessary - coronary artery disease genetic testing: Genetic testing for coronary artery disease (CAD), including gene expression tests, microarray or other genetic profiles for cardiac disease risk (examples include Cardiac DNA Insight, Cardiac Healthy Weight DNA Insight, Cardio IQ gene tests and panels), is unproven and not medically necessary.

Indications and gene-based coverage recommendations

Recommendations from professional societies and gene-curation efforts:

LQTS - index patients: Offer molecular genetic testing for definitive disease-associated genes (currently KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3) to index patients with a high-probability diagnosis of LQTS based on clinical history, family history, ECG (including Holter/exercise) and Schwartz Score ≥ 3.5; acquired causes should be ruled out prior to testing.Schwartz Score >= 3.5

LQTS - gene-specific analysis: Perform targeted analysis of specific genes for syndromic presentations (e.g., KCNQ1 and KCNE1 for Jervell and Lange-Nielsen; CACNA1C for Timothy syndrome; KCNJ2 for Andersen–Tawil syndrome; TRDN for suspected triadin knockout syndrome).

Familial/variant-specific testing: Variant-specific genetic testing is recommended for family members and appropriate relatives after identification of a disease-causing variant in the proband; predictive testing in related children is recommended from birth onward for LQTS per guideline.

Condition-specific coverage criteria

Genetic testing is recommended when phenotype-based diagnostic criteria are met and for cascade testing of relatives when a disease-causative variant is identified.

LQTS: Offer molecular genetic testing for definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1-3) to index patients with high-probability diagnosis (Schwartz Score ≥ 3.5) based on clinical/family history and ECG characteristics; analyze syndrome-specific genes as indicated and perform variant-specific testing in relatives.Schwartz Score >= 3.5

CPVT: Recommend molecular genetic testing for established CPVT-susceptibility genes (RYR2, CASQ2, CALM1-3, TRDN, TECRL) in patients meeting diagnostic criteria (e.g., Class 1 diagnosis or diagnostic score >3.5); consider phenocopy genes if phenotype-positive and negative for established genes; perform variant-specific testing in relatives.

Brugada Syndrome: Sequence SCN5A for index cases with a diagnostic type I ECG (spontaneous or pharmacologically induced with supporting clinical features or family history); do not routinely report variants in genes with disputed/refuted validity; perform targeted family testing when a causative variant is found.

Guideline-based coverage criteria

Covered when ALL of the following apply, per specialty guidelines

Probands and family members: Genetic testing is recommended for probands with a confirmed diagnosis of an inherited cardiomyopathy (HCM, DCM, ACM, LVNC) and for at-risk first-degree relatives for cascade testing when a pathogenic/likely pathogenic (P/LP) variant is identified.

Proband testing indications: Proband testing is recommended when disease is confirmed, when presentation is atypical or another genetic condition is suspected, or when there is a family history of DCM/HCM/ACM or premature unexpected sudden death (including postmortem cases to aid cascade testing).

Predictive testing in relatives: Predictive genetic testing is recommended for related children >10–12 years and may be considered in younger children when family history indicates early-onset disease; testing phenotype-negative relatives for VUS reclassification is of uncertain utility.Age >10-12 years for routine predictive testing

Cardiomyopathy testing: Covered with criteria

Covered when guidance-recommended criteria for each cardiomyopathy are met:

Arrhythmogenic Cardiomyopathy (ACM) - coverage criteria: Comprehensive genetic testing is recommended for patients with phenotypic features of ACM (including postmortem cases); test first-tier definitive genes (PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, FLNC, DES, LMNA); test the more severely/earlier affected family member as the genetic proband when multiple affected relatives exist; perform variant-specific testing for relatives and follow pediatric predictive testing recommendations (>10–12 years, consider younger in early-onset families).

Familial Dilated Cardiomyopathy (DCM) - coverage criteria: Genetic testing is recommended for probands with DCM and a family history; initial tier should include definitive/strong genes (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP) with additional moderate-evidence genes as appropriate; testing is indicated in sporadic DCM with severe systolic dysfunction (LVEF <35%), malignant arrhythmia phenotype, or younger age; perform variant-specific testing for relatives and follow pediatric guidance for predictive testing.LVEF <35%

Left Ventricular Noncompaction (LVNC) - coverage criteria:

HTAD testing: Covered with criteria

Covered when ALL of the following are met:

Inherited Thoracic Aortic Disease (HTAD) - coverage criteria: For individuals with aortic root/ascending aortic aneurysms or aortic dissection and risk factors for HTAD, genetic testing to identify pathogenic/likely pathogenic variants should be performed; obtain a multigenerational family history and, when a P/LP variant is identified, provide genetic counseling and cascade testing of at-risk biological relatives. Panels typically include genes with definitive association (e.g., FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, PRKG1) and other overlapping genes as indicated by presentation.

Genetic testing for coronary artery disease (CAD), including gene expression assays and microarray or polygenic risk profiles, is considered not medically necessary because evidence is insufficient to demonstrate clinical benefit. Similarly, any genetic test for cardiomyopathies, arrhythmias, or aortic vascular disease that does not meet the specific phenotype- and gene-based criteria in this policy is considered unproven and not medically necessary.

Recent evidence reappraisals recommend excluding or de-emphasizing genes with limited or disputed evidence from clinical decision-making. Studies using the ClinGen framework reclassified many previously reported LQTS and CPVT genes as limited/disputed and recommend that variants in such genes should not be used for clinical decision-making unless new supporting evidence is available. Systematic, evidence-based gene curation is advised before including genes on diagnostic panels.

Searching for common genetic variants or using polygenic risk information to predict atrial fibrillation (AF) risk is not routinely recommended for clinical management because current data do not demonstrate clear utility in guiding surveillance or treatment. Guideline statements note uncertainty about how consumer-based or targeted genetic testing and PRS should influence clinical care.

When genetic testing of a proband does not identify a pathogenic or likely pathogenic (P/LP) variant, routine cascade genetic testing of relatives and ongoing clinical surveillance of genotype-negative relatives are not recommended because they have not demonstrated benefit; continued follow-up or testing should be considered only if variant reclassification or new clinical findings arise.

Genetic testing should not be performed for isolated or incidental left ventricular noncompaction (LVNC) in individuals with normal left ventricular function, no syndromic features, and no family history of cardiomyopathy, as testing in that setting is unlikely to be informative.

The evidence is insufficient to support use of genomic risk scores, polygenic risk scores (PRS), or gene expression testing for routine evaluation of coronary artery disease (CAD). Systematic reviews and large-cohort analyses show modest incremental predictive gains but insufficient evidence that these tests improve clinical outcomes or justify routine clinical use.

Major guideline and consensus groups have concluded that use of genetic markers for prediction of coronary heart disease lacks sufficient consensus. The Sixth Joint Task Force and related analyses have highlighted inconsistency in markers, calculation methods, and limited clinical applicability, and therefore do not recommend routine use of genetic markers for CHD prediction.

Coverage decisions under this policy must be interpreted in the context of applicable federal, state, or contractual requirements. If those higher-priority requirements conflict with this Medical Policy, the federal, state, or contractual terms govern.

Except where specific criteria in this policy are met, all other genetic testing for cardiomyopathies, inherited arrhythmias, or aortic vascular disease is considered unproven and not medically necessary. Tests that do not follow the phenotype-driven, gene-tiered, or guideline-recommended indications described elsewhere in this policy are not covered.

Hayes clinical utility evaluations found insufficient evidence that genetic testing improves health outcomes for some probands with CPVT or Brugada syndrome, although testing can be useful for identifying familial variants to guide relatives. In CPVT and BrS, the evidence supporting improved proband outcomes after genetic testing is limited, and genetic testing is most informative when a disease-causing familial variant is identified.

Genetic testing performed in the absence of a supportive phenotype — for example, ordering testing without a diagnostic ECG or without meeting diagnostic criteria for arrhythmia syndromes — is not recommended. Testing should be phenotype-driven and supported by clinical and diagnostic findings before molecular evaluation is pursued.

Cascade genetic testing and ongoing clinical screening of relatives who are genotype-negative (when the proband has no identified P/LP variant) are generally not indicated because evidence shows no benefit in this setting; testing should be limited to scenarios with an identified pathogenic familial variant or new clinical indications.

Repeated for emphasis: genomic risk scores, polygenic risk scores, and gene expression tests for CAD currently have insufficient evidence of clinical utility and are not supported for routine clinical use to guide surveillance or therapy decisions.

The policy reiterates that genomic risk scores for coronary artery disease have not demonstrated sufficient clinical utility to support routine use; available studies show only modest discrimination gains and uncertain impact on outcomes.

Covered Indications and Eligible Populations

Covered inherited arrhythmias, cardiomyopathies, HTAD and asymptomatic individuals with 1st- or 2nd-degree relative with listed disease or sudden cardiac death ≤45

Covered inherited conditions and family-history indications: Inherited arrhythmias (BrS, CPVT, congenital LQTS meeting criteria, SQTS); inherited cardiomyopathies (ARVD/C, DCM meeting criteria, HCM without identifiable cause, LVNC); inherited thoracic aortic disease (confirmed or suspected based on family history); and asymptomatic individuals with a first- or second-degree relative with any listed disease or a first-degree relative with sudden cardiac death or near death at age ≤45 years.

Index patients with high-probability clinical diagnosis of LQTS (Schwartz Score >= 3.5) for testing of definitive LQTS genes; includes ECG/Holter/exercise in pretest evaluation

Index patients with high-probability LQTS (Schwartz Score >= 3.5): Offer molecular genetic testing for definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1-3) to index patients with a high-probability clinical diagnosis of LQTS (Schwartz Score ≥ 3.5) after phenotype assessment including baseline ECG, Holter, and exercise testing; acquired causes must be excluded prior to testing.Schwartz Score >= 3.5

Eligibility Requirements and Preconditions

Asymptomatic genetic testing is covered for individuals when a first- or second-degree relative has a listed inherited arrhythmic disorder or cardiomyopathy (including ARVD/C, BrS, CPVT, congenital LQTS, familial DCM, HCM, LVNC, SQTS) or when a first-degree relative experienced sudden cardiac death or near death at age ≤45; testing in these family-history–based scenarios follows the policy’s covered indications.

Additional eligibility considerations include phenotype-driven indications and guideline-directed thresholds (for example, high-probability LQTS with Schwartz Score ≥ 3.5, diagnostic ECG criteria, or condition-specific diagnostic scores). Family history, documented clinical evaluation, and specialist assessment inform eligibility for testing; variant-specific testing is recommended for relatives when a familial P/LP variant is known.

For Long QT Syndrome (LQTS), acquired causes of QT prolongation (such as medication effects or electrolyte disturbances) must be ruled out before pursuing genetic testing. When a familial pathogenic variant is known, variant-specific testing is the appropriate approach for family members.

Again for LQTS, ensure acquired causes are excluded prior to testing. Index patients meeting diagnostic criteria (including ECG findings and a Schwartz Score ≥ 3.5) should be prioritized for sequencing of definitive LQTS genes; family members should receive variant-specific testing once a familial P/LP variant is identified.

Before genetic testing for LQTS is ordered, clinicians must exclude acquired causes of QT prolongation. When a disease-causative familial variant is identified, targeted variant testing in relatives is the recommended testing strategy rather than broad panel testing.

Provider Actions, Documentation, and Authorization Notes

Billing Rule

Applicable codes, coding updates, and coverage note

The following highlights actions, documentation expectations, and coding notes relevant to ordering and adjudication of genetic testing for inherited cardiac conditions. Applicable procedure and molecular pathology codes are provided for reference only; inclusion does not guarantee coverage. Benefit coverage is determined by federal, state, or contractual requirements and applicable laws.

Applicable codes listed in the policy are for reference only; inclusion does not guarantee payment or coverage.
Updated code list effective 2026-05-01 includes addition of CPT 0617U; check plan-specific prior authorization processes for new/updated codes.

Note

Clinical prerequisites for genetic testing

Genetic testing should be phenotype-driven. Offer molecular genetic consultation and document the clinical rationale before testing. Testing without a compatible phenotype or diagnostic findings is not recommended.

Applicable Codes and Diagnostic Thresholds

Applicable molecular and procedure codesmixed

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 (SNPs) and 3 DNA methylation markers, qPCR and digital PCR, whole blood, algorithm reported as a 4-tiered risk score for a 3-year risk of symptomatic CHD.
0440U	Cardiology (coronary heart disease [CHD]), DNA, analysis of 10 single-nucleotide polymorphisms (SNPs) and 6 DNA methylation markers, qPCR and digital PCR, whole blood, algorithm reported as detected 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.
0617U	Cardiovascular (atherosclerotic cardiovascular disease [ASCVD]), DNA methylation analysis of more than 20,000 sites, whole blood, algorithm reported as positive or negative risk.
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.
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.

1–10 of 13

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Applicable CPT Codes (updated)CPT

0617U

Cardiovascular (ASCVD), DNA methylation analysis of more than 20,000 sites, whole blood, algorithm reported as positive or negative risk. Added in policy update.

QTc interval diagnostic thresholds and related testing notes.

Resting QTc diagnostic thresholdsQTc > 470 msec (males) or > 480 msec (females) is considered diagnostic for congenital LQTS.

Exercise/Provocation QTc criterionQTc ≥ 480 ms in the fourth minute of recovery from exercise stress testing qualifies as prolonged for Schwartz scoring.

Ambulatory/Holter QTc considerationQTc values of 460–479 ms (or 450–459 ms in males) on ambulatory/Holter or provocation testing contribute points toward diagnosis per Schwartz criteria.

Schwartz Score interpretation — ≤1.0 low; 1.5-3.0 intermediate; ≥3.5 high.

Low probabilitySchwartz Score ≤ 1.0 = low probability of LQTS.

Intermediate probability

Services and Tests Not Covered

Genetic testing for coronary artery disease (including gene expression profiling and polygenic/microarray risk profiles) is explicitly listed as not covered and not medically necessary in this policy.

Restating policy position: genomic risk scores, PRS models, and gene expression panels for CAD lack adequate evidence of clinical utility and are therefore not covered for routine clinical care.

Testing of genes that have been reclassified as having limited or disputed evidence for disease causation (for example, many previously reported LQTS and CPVT genes) is discouraged and not covered for routine clinical decision-making unless subsequent evidence supports clinical validity.

Routine testing for common genetic variants associated with atrial fibrillation (AF) risk or direct-to-consumer SNP-based assessments is not considered clinically useful and is not covered for routine clinical management.

Routine cascade genetic testing or continued clinical surveillance in relatives who are genotype-negative when the proband has no identified P/LP variant is not covered, as evidence does not support benefit from such testing or surveillance in genotype-negative family members.

Direct-to-consumer genetic tests lack standardized methodologies, oversight, and evidence of clinical benefit; therefore, these tests are not covered for routine clinical use and should not substitute for guideline-directed genetic evaluation and counseling.

Definitions and Diagnostic Terms

First-Degree Relative definition — parents, siblings, offspring.

Included relationsFirst-degree relatives include parents, siblings, and offspring.

Use in coverageFirst-degree relationship qualifies a relative for asymptomatic cascade testing when a pathogenic familial variant is identified.

DocumentationA three-generation family history including identification of first-degree relatives is recommended for genetic evaluation of cardiomyopathy and arrhythmia syndromes.

Second-Degree Relative definition — half-siblings, aunts/uncles, grandparents, grandchildren, nieces/nephews.

Included relationsSecond-degree relatives include half-siblings, aunts/uncles, grandparents, grandchildren, and nieces/nephews on the same side of the family.

Coverage relevance

Revision History and Policy Changes

2026-05-01code_updateLatest

Applicable CPT code list updated to reflect quarterly edits; CPT code 0617U was added to the policy's applicable codes.

2026-05-01administrative_archive

Previous policy version CS048NM.C was archived as part of this update.

The list of applicable CPT/HCPCS codes was updated in this revision; a new code, 0617U, was added to the policy’s coding references. Check plan-specific prior authorization processes and benefit terms for application of this and other procedural codes.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing for Cardiac Disease (for New Mexico Only)

Policy CodePolicy CS048NM.D

Change TypeCodes updatedmaterial revision

Effective DateMay 01, 2026

Next Review DateN/A

Key ActionDocument clinical phenotype, family history, ECG/diagnostic scores (e.g., Schwartz Score) and offer tiered or variant-specific testing per condition before submitting authorization.

SourceLink

On This Page

CPVT testing: Genetic testing is recommended for established CPVT-susceptibility genes with definitive-to-moderate evidence (e.g., RYR2, CALM1/2/3 dominant; CASQ2, TRDN, TECRL recessive); testing is most informative when a familial variant is identified in an affected individual and clinical utility for some probands remains limited per evidence reappraisals.

Short QT Syndrome: Recommend molecular genetic testing for definitive SQTS genes (KCNH2, KCNQ1) in patients meeting diagnostic criteria (e.g., diagnostic score ≥4); consider KCNJ2 and SLC4A3 in high-probability cases; perform variant-specific family testing.SQTS diagnostic score >= 4

Inherited Atrial Fibrillation: Consider analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants in index patients with familial early-onset AF (e.g., onset <60 years) when diagnosis is established by clinical and family history and ECG; variant-specific testing for relatives may be considered.Age < 60 years (familial AF) suggested

Hypertrophic Cardiomyopathy (HCM): Genetic testing is supported for individuals with clinical HCM and for cascade testing of relatives when a P/LP variant is identified; initial testing should include sarcomeric genes (e.g., MYH7, MYBPC3, TNNT2, TNNI3, MYL3) per guidelines; genetic counseling recommended.Clinical diagnosis of HCM (wall thickness >=13-15 mm)

Arrhythmogenic Cardiomyopathy (ACM/ARVC): Genetic testing is confirmatory for index cases and facilitates cascade screening; LP/P variant identification is a major diagnostic criterion; test first-tier genes (e.g., PKP2, DSP, DSG2, DSC2, JUP, TMEM43) and perform variant-specific testing in relatives.

Familial Dilated Cardiomyopathy (DCM): Genetic testing is appropriate where familial DCM is suspected; include definitive/strong evidence genes in initial tier (e.g., BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP); testing is useful in sporadic DCM with severe systolic dysfunction (LVEF <35%), malignant arrhythmia phenotype, or younger age; perform variant-specific testing in relatives.LVEF <35% for consideration in sporadic DCM

DCM-specific: Genetic testing is recommended for probands with DCM and family history or clinical features suggestive of genetic etiology; testing can be useful in apparently sporadic DCM with severe systolic dysfunction (LVEF <35%), malignant arrhythmia phenotype, or younger age.LVEF <35%

Gene-tier testing: Initial genetic testing in probands should include genes with definitive/strong evidence for the specific cardiomyopathy (examples listed in guidelines) with consideration of expanded panels for borderline or syndromic cases.

Genetic testing may be useful when a cardiologist has established a clinical diagnosis of LVNC based on clinical history, family history, and imaging phenotype or when LVNC is syndromic/associated with other cardiac features; genetic testing should not be performed in isolated/incidental LVNC with normal LV function, no syndromic features, and no family history; perform variant-specific testing for relatives after identification of causative variant.

Family members for cascade or predictive testing when a pathogenic familial variant has been identified (predictive testing in children per guideline)

Family members for cascade/predictive testing: Variant-specific genetic testing is recommended for family members and appropriate relatives when a pathogenic or likely pathogenic familial variant has been identified in the proband; for LQTS and certain disorders, predictive testing in related children is recommended from birth onward.

Index patients meeting phenotype-driven diagnostic criteria for inherited arrhythmia syndromes and cardiomyopathies; also indicated for cascade testing when P/LP variant identified

Index patients meeting phenotype-driven criteria: Genetic testing is indicated for index patients who meet phenotype-driven diagnostic criteria for inherited arrhythmia syndromes (LQTS, CPVT, BrS, SQTS, familial AF) and cardiomyopathies (HCM, ACM/ARVC, familial DCM); when a P/LP variant is identified in a proband, cascade testing of relatives is indicated.

Probands with confirmed or suspected inherited cardiomyopathy and individuals with family history of cardiomyopathy or premature unexpected sudden death; includes postmortem testing

Probands with confirmed or suspected inherited cardiomyopathy: Genetic testing is recommended for probands with confirmed or suspected inherited cardiomyopathy (HCM, DCM, ACM, LVNC), for probands with atypical presentations or suspected phenocopies, and for individuals with family history of cardiomyopathy or premature unexpected sudden death; postmortem testing is included to aid cascade testing.

Patients with apparently sporadic DCM who have severe systolic dysfunction (LVEF <35%), malignant arrhythmia phenotype, or younger age — criteria for proband testing

Sporadic DCM with high-risk features: Genetic testing may be useful for patients with apparently sporadic dilated cardiomyopathy who have severe systolic dysfunction (left ventricular ejection fraction <35%), a malignant arrhythmia phenotype, or younger age.LVEF <35%

Genetic testing of probands with clinical diagnosis of ACM, DCM, LVNC, or individuals with thoracic aortic aneurysm/dissection and risk factors for HTAD — testing to inform diagnosis, risk stratification, and cascade testing

Genetic testing for probands with ACM, DCM, LVNC and HTAD risk: Genetic testing of probands with clinical diagnosis of arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), left ventricular noncompaction (LVNC), or individuals with thoracic aortic aneurysm/dissection and risk factors for HTAD is recommended to inform diagnosis, risk stratification, and enable cascade testing of relatives; follow gene-tier recommendations for initial testing and perform variant-specific testing for relatives when a causative variant is identified.

Evaluation of heritable thoracic aortic aneurysms/dissections to identify causal gene(s); testing may be negative in many families

Evaluation of heritable thoracic aortic disease (HTAD): Genetic evaluation of individuals with thoracic aortic aneurysm or dissection is recommended to identify causal gene(s) that inform clinical management and family risk; testing panels should include genes with definitive/strong evidence (e.g., FBN1, LOX, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, ACTA2, MYH11, MYLK, PRKG1) and additional genes as indicated by clinical presentation; note many families without systemic features have negative genetic testing results.

Citation-supported inherited cardiomyopathies and arrhythmia syndromes referenced in literature

Citation-supported inherited cardiac conditions: Inherited cardiomyopathies and arrhythmia syndromes referenced in the literature include hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), and noncompaction cardiomyopathy; these citations provide supporting clinical context and evidence for the coverage statements above.

Additional eligibility nodes include documentation of clinical evaluation, family history, and, when indicated, specialty referral and genetic counseling. Required clinical documentation should include medical and family history, ECG data (including Holter or exercise testing where relevant), and diagnostic scores to support the testing indication.

Recommend molecular genetic counseling prior to testing.
Phenotype-driven testing: choose targeted sequencing, gene panel, or exome/genome based on clinical findings.
Do not routinely offer broad testing for common AF-associated variants for clinical decision-making absent supporting evidence.

Prior Authorization

PA: phenotype and diagnostic score required

For certain channelopathy diagnoses, prior authorization requests (when required by plan) should reference phenotype-based indication and documented diagnostic score thresholds (for example, Schwartz Score ≥ 3.5 for LQTS). Include specific diagnostic criteria used to justify testing.

When requesting authorization, document the phenotype and diagnostic score (e.g., Schwartz Score, CPVT diagnostic score, SQTS diagnostic score) used to support testing.
If plan requires prior authorization, reference the specific phenotype-driven indication and applicable diagnostic thresholds.

Documentation Required

Gene-tiered testing and variant-specific testing for relatives

Use a tiered testing approach for probands and perform variant-specific (predictive) testing in relatives only after a pathogenic/likely pathogenic (P/LP) variant is identified in the proband. Clinical screening of relatives (ECG, echocardiography) is first-line when appropriate.

Proband testing: begin with first-tier/definitive genes for the clinical diagnosis (examples: HCM definitive genes MYH7, MYBPC3, etc.; ACM first-tier PKP2, DSP, DSG2, etc.; DCM definitive genes BAG3, DES, FLNC, LMNA, MYH7, TTN, etc.).
If no P/LP variant is found in the proband, cascade genetic testing of relatives is not recommended.
Variant-specific (predictive) testing of relatives is appropriate only after identification of a disease-causative P/LP variant in the proband.

Prior Authorization

Prior authorization and authorization status

Prior authorization instructions are not specified in this section of the policy. Plans may have separate prior authorization requirements; check plan-specific processes. The policy provides clinical and laboratory context but does not replace plan authorization rules.

UnitedHealthcare: Verify plan-specific prior authorization requirements before ordering tests, particularly for new/updated CPT codes (e.g., 0617U).
Absence of authorization guidance in this policy does not imply that authorization is not required by the member's benefit plan.

Documentation Required

Cascade testing approach and limitations

Clinical screening is the first-line approach for at-risk relatives; cascade predictive genetic testing is appropriate when a familial P/LP variant is known. Do not perform cascade testing when proband testing is negative for a P/LP variant.

Perform clinical screening (ECG, echocardiography) for at-risk relatives prior to or in conjunction with genetic counseling.
Offer predictive genetic testing to relatives only if a P/LP familial variant has been identified in the proband.
If proband testing reveals only VUS or no P/LP variants, cascade genetic testing of relatives is not indicated.

Documentation Required

Medical record requirements

Medical records must document the clinical justification for testing. Lack of adequate documentation that supports medical necessity may result in denial of coverage. Documentation should be legible, maintained in the medical record, and available on request.

Include relevant medical history, physical examination findings, and results of diagnostic testing (ECG, Holter, exercise testing, imaging) that support the suspected diagnosis.
Provide objective documentation of family history, pedigree, and any prior genetic testing results when available.
Maintain records and make available upon request for review to substantiate medical necessity.

Documentation Required

Required clinical documentation for testing decision

Required clinical documentation to support a testing decision should include detailed clinical history, family history (three-generation pedigree when feasible), baseline ECG (and Holter/exercise ECG when indicated), and diagnostic scores where applicable.

Document the phenotype with pertinent positive and negative findings relevant to the suspected inherited cardiac condition.
Attach baseline ECG tracings and summaries of Holter or exercise testing when used to support the diagnosis.
Include diagnostic score calculations (e.g., Schwartz Score) or clinical classification used to justify testing.

Documentation Required

Family history and counseling documentation

Obtain and document a detailed family history and provide genetic counseling. For primary cardiomyopathy patients, a three-generation family history and pedigree are recommended. Genetic counseling should be offered to affected individuals and at-risk relatives.

Record a three-generation family history and pedigree, noting ages and diagnoses of affected relatives and any history of sudden unexpected death.
Document that pre- and post-test genetic counseling was offered or provided, and summarize counseling topics (risks, benefits, limitations, implications for relatives).
Refer to specialized centers when appropriate for complex cases or variant interpretation.

Step Therapy

Step approach for Brugada testing and step therapy note

Step approach recommendations: For Brugada syndrome, initial focused sequencing of SCN5A is recommended for index cases with a diagnostic type I ECG; extended panel testing may follow per clinical guidance. No step therapy or sequencing requirements are specified in this policy.

Brugada: order SCN5A sequencing first when index case meets diagnostic ECG criteria; expand testing if clinically indicated.
Policy contains no mandated step therapy or testing sequence beyond recommended phenotype-driven, tiered approaches.

Note

References and informational resources

This section contains bibliographic citations and references used to support the clinical recommendations. The references do not prescribe authorization rules and are provided for clinical context.

References are included in the policy (see References and FDA sections) to support clinical guidance.
Reference lists do not replace plan-specific coverage determinations or prior authorization requirements.

Note

Reference to higher-priority coverage terms

Coverage determinations must reference federal, state, or contractual requirements when applicable. In case of conflict between this policy and higher-priority coverage terms, the federal, state, or contractual requirements govern.

Always verify the member's benefit plan and applicable regulatory requirements prior to ordering testing.
This policy is informational and may be superseded by contractual or statutory mandates.

Schwartz Score 1.5–3.0 = intermediate probability of LQTS.

High probabilitySchwartz Score ≥ 3.5 = high probability of LQTS.

QTc diagnostic thresholds — >470 msec (males); >480 msec (females).

Male thresholdQTc > 470 msec (males) is diagnostic for congenital LQTS.

Female thresholdQTc > 480 msec (females) is diagnostic for congenital LQTS.

Contextual useThese QTc thresholds are used alongside clinical history, family history, and Schwartz Score to establish diagnosis.

Schwartz Score threshold for high probability LQTS — Schwartz Score >= 3.5.

Schwartz high-probability cutoffSchwartz Score ≥ 3.5 defines high probability LQTS and indicates offering molecular genetic testing for definitive LQTS genes.

Role in testing decisionA Schwartz Score ≥ 3.5 supports sequencing of definitive LQTS genes (KCNQ1, KCNH2, SCN5A, CALM1-3) in index patients.

Integration with ECG and family historySchwartz Score is applied together with baseline ECG, Holter and exercise testing results when evaluating for LQTS prior to genetic testing.

Genetic testing for isolated/incidental LVNC without abnormal LV function, syndromic features, or family history is not covered. Similarly, genomic risk scores and gene expression testing for CAD are not supported by sufficient evidence and are not covered.

The routine clinical use of polygenic risk scores (PRS) or other genomic risk algorithms for coronary artery disease is not supported by current evidence and is therefore not covered by this policy.

Asymptomatic testing may be covered for second-degree relatives when a first- or second-degree relative has a listed inherited disorder or a pathogenic familial variant is known.

Family history documentationDocumentation of affected second-degree relatives is part of the multigenerational pedigree recommended for testing decisions.

Schwartz Score definition and interpretation — scoring components and category interpretation.

What it isThe Schwartz Score is a diagnostic scoring system for long QT syndrome that combines ECG findings (QTc durations, T-wave abnormalities, torsades, heart rate) with clinical history and family history components.

Scoring componentsKey components include QTc thresholds (points assigned for QTc ≥480 ms, 460–479 ms, 450–459 ms in males), T-wave alternans, notched T waves, torsades, syncope with/without stress, congenital deafness, and family history elements.

Interpretation categoriesTotal score interpreted as ≤1.0 low probability, 1.5–3.0 intermediate probability, and ≥3.5 high probability of LQTS.

LQTS definition — channelopathy with QTc diagnostic thresholds.

DefinitionLong QT Syndrome (LQTS) is a cardiac channelopathy characterized by QTc prolongation on ECG and predisposition to syncope, ventricular arrhythmia, and sudden cardiac death.

Diagnostic QTc thresholdsAn ECG QTc > 470 msec (males) or > 480 msec (females) is diagnostic; prolonged QTc on exercise/ambulatory/Holter or provocation testing is also considered in diagnostic criteria.

Testing implicationClinical diagnosis of LQTS using QTc and Schwartz Score guides offering molecular genetic testing of definitive LQTS genes.

CPVT definition — inherited channelopathy often presenting in childhood/adolescence.

DefinitionCatecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited channelopathy that typically presents in childhood or adolescence with exercise- or stress-induced syncope or ventricular arrhythmia; resting ECG often normal but arrhythmia inducible on exercise testing.

Inheritance and genesCPVT can be autosomal dominant (e.g., RYR2, CALM1-3) or recessive (e.g., CASQ2, TRDN, TECRL); RYR2 accounts for the majority of cases.

Evaluation methodsEvaluation includes exercise stress testing, Holter monitoring, and genetic screening; genetic testing recommended when diagnostic criteria are met.

Brugada Syndrome definition — inherited channelopathy with characteristic ECG and SCD risk.

DefinitionBrugada Syndrome (BrS) is an inherited channelopathy characterized by a diagnostic ECG pattern and increased risk of ventricular arrhythmia and sudden cardiac death, typically in a structurally normal heart.

Genetic yield and major geneGenetic testing yield is modest (≈25–35%); SCN5A is the major gene (15–30% of cases), with other genes (e.g., SCN10A) of minor significance.

Testing recommendationSequence SCN5A for index cases with a diagnostic type I ECG; targeted family testing may be useful when a pathogenic variant is identified.

HCM diagnostic criteria — LV wall thickness thresholds on echo or MRI.

Diagnostic criterionHypertrophic cardiomyopathy (HCM) is clinically diagnosed by imaging showing a non-dilated left ventricle with wall thickness ≥13–15 mm in adults measured by echocardiogram or cardiac MRI.

Clinical relevanceHCM is associated with variable symptoms from asymptomatic to heart failure and sudden cardiac death; genetic testing assists diagnosis and family screening.

Testing sensitivityAnalytic sensitivity for HCM mutation detection is high across sequencing technologies (NGS, Sanger), with NGS showing high SNV sensitivity and higher VUS yield.

ARVC diagnostic approach — ITF criteria combining ECG, imaging, arrhythmia monitoring, genetic testing and family history.

Diagnostic approachArrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) diagnosis uses International Task Force (ITF) criteria combining ECG, imaging (echo, cardiac MRI, RV angiography), arrhythmia monitoring, genetic testing, and family history.

Role of geneticsIdentification of a LP/P variant is a major diagnostic criterion and genetic testing aids confirmatory diagnosis, interpretation of borderline investigations, and cascade screening.

Family screening impactFirst-degree relatives have substantial diagnostic yield on screening (example: te Riele study found 35% of first-degree relatives diagnosed), supporting use of genetic and clinical family evaluation.

DCM definition — familial dilated cardiomyopathy context.

DefinitionDilated cardiomyopathy (DCM) refers to familial dilated cardiomyopathy when hereditary causes are suspected; it involves ventricular dilation and systolic dysfunction.

Genetic yield and genesGenetic mutations are identified in ~22–50% of familial DCM cases; over 30 genes implicated including DES, LMNA, SCN5A and TTN (≈20% contribution).

Indications for testingGenetic testing is recommended for probands with DCM and family history, and may be useful in sporadic DCM with LVEF <35%, malignant arrhythmia phenotype, or young age.

LVNC definition — left ventricular noncompaction and variable manifestations.

DefinitionLeft ventricular noncompaction (LVNC) is characterized by a spongy appearance of the left ventricular myocardium due to arrested myocardial compaction; clinical manifestations range from asymptomatic to heart failure and sudden cardiac death.

Genetic contributorsVariants in genes such as MYH7 and MYBPC3 account for an estimated ~30% of cases; genotype may help predict outcomes as some genes carry different risks.

Testing considerationsGenetic testing may be useful when LVNC diagnosis is established or syndromic features are present; testing is not recommended for isolated incidental LVNC with normal LV function and no family history.

ACM / ARVC/D definition — arrhythmogenic cardiomyopathy for familial risk assessment and cascade testing.

Definition and scopeArrhythmogenic cardiomyopathy (ACM), including ARVC/D and ALVC, is a heritable arrhythmogenic disorder used for familial risk assessment and cascade testing.

Diagnostic role of geneticsIdentification of LP/P variants is a major diagnostic criterion and supports cascade testing; gene-tiered testing of definitive genes is recommended for probands.

Testing strategyTest the most clearly affected family member (genetic proband) first; perform variant-specific testing for relatives after identification of a disease-causative variant.

HTAD definition — heritable thoracic aortic disease overview.

DefinitionHeritable thoracic aortic disease (HTAD) refers to genetically-mediated thoracic aortic aneurysm and dissection syndromes, frequently autosomal dominant with high penetrance.

Clinical importanceIdentification of causal genes informs management, surgical thresholds, and family cascade testing despite many families remaining genetically unsolved (~70% negative in non-syndromic cases).

Genes implicatedTesting is often targeted by clinical features (e.g., FBN1 for Marfan) or performed via multi-gene panels that include high-confidence HTAD genes.

Genetic proband definition — the affected family member prioritized for genetic testing.

DefinitionGenetic proband: the most clearly affected family member prioritized for genetic testing to identify a causative variant that will guide cascade testing.

RationaleTesting the proband maximizes the likelihood of identifying a disease-causing variant for targeted family testing and avoids unnecessary broader testing in relatives.

ApplicationIn families with multiple affected members, the individual with a more severe or earlier phenotype may be chosen as the genetic proband for testing first.

HTAD gene list — genes with strong/definitive evidence for penetrant heritable thoracic aortic aneurysms/dissections.

High-confidence HTAD genesGenes with strong/definitive evidence for penetrant HTAD include ACTA2, COL3A1, FBN1, MYH11, SMAD3, TGFB2, TGFBR1, TGFBR2, MYLK, LOX, PRKG1.

Panel composition guidanceWhen Marfan features are present test FBN1 specifically; otherwise consider multi-gene panels (15–16 genes) for broader HTAD presentations.

Negative testing noteGenetic testing is often negative (~70%) in families with HTAD who lack systemic features, highlighting limits of current gene discovery.

Major CAD genes — APOB, LDLR, PCSK9 referenced per guidance.

Major CAD genesAPOB, LDLR, and PCSK9 are major genes associated with monogenic forms of coronary artery disease and hyperlipidemia-related risk.

Clinical utility caveatAlthough these genes are associated with monogenic CAD risk, polygenic contributions and PRS remain debated and are not routinely used for clinical decision-making per policy.

Policy stanceGenetic testing for CAD risk prediction (including gene expression and polygenic/microarray profiles) is considered unproven and not medically necessary.

Multigene Test definition referenced via NCI Dictionary of Genetics Terms.

Definition sourceMultigene Test: defined per the National Cancer Institute Dictionary of Genetics Terms as genetic tests that assess multiple genes simultaneously (e.g., by NGS panels).

RelevancePolicy applies this definition when addressing hereditary cardiomyopathy, arrhythmia, and aortopathy panels (typically ≥5 genes).

Testing modalitiesIncludes targeted multi-gene NGS panels, single-gene testing, and variant-specific familial testing under the multigene testing umbrella.

GeneReviews definition — curated disease-specific genetic summaries used as clinical reference sources.

What GeneReviews areGeneReviews are curated, disease-specific genetic summaries maintained as clinical reference sources (University of Washington/NCBI).

Use in policyGeneReviews are cited as authoritative sources for condition-specific testing recommendations (e.g., LQTS, CPVT, Brugada, HCM).

ContentGeneReviews provide diagnostic criteria, gene lists, inheritance, and management considerations often referenced in guideline development.

Inherited cardiac conditions — arrhythmogenic right ventricular dysplasia/cardiomyopathy and other inherited cardiomyopathies discussed in citations.

ScopeInherited cardiac conditions referenced include arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D) and other inherited cardiomyopathies such as HCM, DCM, LVNC, and channelopathies (LQTS, BrS, CPVT).

Purpose of citationsThese literature references support clinical context, diagnostic approaches, gene validity assessments, and family screening strategies used in the policy.

Clinical implicationGuidance synthesized from these sources informs which genes/panels are considered definitive/strong for testing and when testing is medically necessary.