DraftmhnPolicy N/A

Concert Genetic Testing: Cardiac Disorders — Coverage Criteria

Policies governing genetic testing for hereditary cardiomyopathies, arrhythmias, congenital heart defects, cholesterol disorders, and post-transplant rejection assessment; affects providers ordering or interpreting cardiac genetic tests and payers processing related claims.

Policy Summary

Payermhn

PolicyConcert Genetic Testing: Cardiac Disorders — Coverage Criteria

Policy CodePolicy N/A

Change TypeCriteria updates, added transplant and FH guidance, coding/table revisions

Effective DateN/A

Next Review DateN/A

Key ActionObtain and document required clinical criteria (diagnostic measurements, family history, and exclusion of reversible causes) and request prior authorization for listed proprietary tests and panel codes when applicable.

SourceLink

POLICY UPDATE CHANGES

Updated multiple clinical criteria across cardiomyopathy and arrhythmia panels (e.g., changed 'sudden unexplained cardiac death' wording, age thresholds, and added autopsy language).

Added Post Heart Transplant Gene Expression Panels for Rejection Risk via Tissue and updated peripheral blood criteria referencing ISHLT 2022 guidance.

Added Familial Hypercholesterolemia (FH) panels with clinical guidance based on ACC/other guideline thresholds for LDL-C and testing genes.

Removed criteria set for Left Ventricular Non-Compaction Cardiomyopathy panels due to rarity.

Updated transplant rejection tools stance to reference American Society of Transplant Surgeons endorsement for dd-cfDNA and ISHLT 2022 recommendations.

Long QT Syndrome (LQTS) Panels: Added 2022 EHRA/HRS/APHRS/LAHRS expert consensus reference and incorporated its recommendation to offer molecular genetic testing for definitive LQTS genes to index patients with high probability diagnoses.

Donor-derived cell-free DNA for heart transplant rejection: Policy reference table updated to include CPT/HCPCS 0493U (Prospera, Natera); default coverage frequency adopted of once every 12 months for routine monitoring absent specific guideline recommendations.

Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.

~10Panel categories covered

2022Guideline year cited

12 moDefault dd-cfDNA frequency

1-1.2%CHD prevalence

15 mmHCM wall thickness

Coverage Criteria for Cardiac Genetic and Transplant Tests

Comprehensive Cardiomyopathy Panels

Covered when ONE of the following is met

Cardiomyopathy diagnosis or relevant family history: A. The member has a diagnosis of cardiomyopathy, OR B. The member has a first-degree relative with sudden cardiac death (SCD) or sudden unexplained death (SUD) AND (1) the relative's autopsy revealed unspecified cardiomyopathy (e.g., cardiomegaly or cardiomyopathy), OR (2) the relative's autopsy revealed an anatomically normal heart AND the autopsy did not reveal a cause of death.panel 81439

Comprehensive cardiomyopathy panels (81439) are investigational for all other indications.

Comprehensive Arrhythmia Panels

Covered when ONE of the following is met

Family history of sudden death or unexplained sudden cardiac arrest: A. The member has a first-degree relative with sudden cardiac death (SCD) or sudden unexplained death (SUD) before age 50, OR a first-degree relative with SCD at age 50 or older AND (a) the deceased had a family history of premature SCD, OR (b) the deceased's death is suspicious for genetic heart disease; OR B. The member has unexplained sudden cardiac arrest AND clinical tests (ECG, cardiac stress tests, echocardiogram, intravenous pharmacologic provocation testing) were non-diagnostic for reversible, ischemic, or structural causes.panels 0237U, 81413, 81414

Comprehensive arrhythmia panels (0237U, 81413, 81414) are investigational for all other indications.

Comprehensive Arrhythmia and Cardiomyopathy Panels

Covered when ALL of the following are met

Combined panel criteria: A. The member meets clinical criteria for Comprehensive Cardiomyopathy Panels (see cardiomyopathy criteria), AND B. The member meets clinical criteria for Comprehensive Arrhythmia Panels (see arrhythmia criteria).panels 81413, 81414, 81439

Comprehensive combined panels investigational for other indications.

Hypertrophic Cardiomyopathy Panels

Covered when ONE of the following is met

HCM diagnosis or family history: A. The member has unexplained left ventricular hypertrophy (LVH) defined as myocardial wall thickness ≥15 mm in adults or a z-score ≥2 in children by echocardiogram or cardiac MRI, OR B. The member has a first-degree relative with sudden cardiac death (SCD) AND autopsy revealed an HCM phenotype.panels 81439, S3865

Genetic testing for HCM via multigene panel is investigational for all other indications; documentation should support imaging-based diagnostic criteria.

Dilated Cardiomyopathy Panels

Covered when ALL of the following are met

DCM diagnostic criteria: A. The member has findings characteristic of dilated cardiomyopathy including: 1) left ventricular enlargement on echocardiogram or cardiac MRI, AND 2) systolic dysfunction (e.g., LVEF <50%) on echocardiogram, cardiac MRI, or left ventricular angiogram, AND 3) non-genetic causes of DCM have been ruled out (for example prior myocardial infarction, valvular or congenital disease, cardiotoxic agents, thyroid disease, inflammatory/infectious conditions, severe long-standing hypertension, radiation). OR B. The member has a first-degree relative with SCD AND autopsy revealed a DCM phenotype.panel 81439

Genetic testing for DCM via multigene panel is investigational for all other indications.

Arrhythmogenic Cardiomyopathy Panels

Covered when criteria consistent with major or minor Task Force–style diagnostic elements are met

Major criteria set (one sufficient): Member has any one major Task Force–style diagnostic criterion for arrhythmogenic cardiomyopathy (examples include specified echocardiographic regional RV akinesia/dyskinesia with defined RVOT measurements or fractional area change, MRI criteria including Rao RVEDV/BSA or RVEF thresholds, RV angiography findings, endomyocardial biopsy with fibrous replacement and specified residual myocyte percentages, ECG features such as inverted T waves or epsilon waves, or family history criteria as detailed in policy).panel 81439

One major criterion is sufficient per policy; genetic testing investigational for other indications.

Minor criteria set (two required): Member has any two minor Task Force–style diagnostic criteria (examples include borderline imaging measurements for echo or MRI, specific SAECG or fQRS parameters, nonsustained/sustained VT of RV outflow configuration, Holter ventricular extrasystoles counts, or family history items as detailed in policy).panel 81439

Two minor criteria required; see policy for detailed ranges and definitions.

Restrictive Cardiomyopathy Panels

RCM panels: Genetic testing for restrictive cardiomyopathy (RCM) via a multigene panel (81439) is considered investigational.panel 81439

No medical necessity criteria provided; consider HCM or DCM panels per ACMG guidance when appropriate.

Long QT Syndrome Panels

Covered when ONE of the following is met

Asymptomatic with prolonged QTc or affected relative: A. The member is asymptomatic AND (1) has confirmed prolonged QTc (>460 ms prepuberty; >480 ms adults) on resting ECG and/or provocative testing, OR (2) has a close relative with a clinical diagnosis of LQTS whose genetic status is unknown.panels 81403, 81406, 81407, 81413, 81414, 81479

Also covered when symptomatic with strong clinical suspicion or Schwartz score ≥3.0 and non-genetic causes excluded.

Symptomatic with cardiologist suspicion or Schwartz score: B. The member is symptomatic (e.g., syncope, cardiac arrest, aborted sudden death) AND (a) a cardiologist has established a strong clinical suspicion based on history, family history, and ECG phenotype OR (b) the member has a Schwartz score ≥3.0, AND non-genetic causes of prolonged QTc have been ruled out (e.g., QT-prolonging drugs, hypokalemia, structural heart disease, certain neurologic conditions).Schwartz score ≥3.0

Genetic testing outside these indications is investigational.

Short QT Syndrome Panels

Covered when ANY of the following are met

Short QT objective or family criteria: A. Member has QTc ≤330 ms, OR B. Member has SQTS diagnostic score ≥4, OR C. Member is asymptomatic AND has a first-degree relative with clinical SQTS whose genetic status is unknown.panels 81403, 81406, 81413, 81414, 81479; QTc ≤330 ms; SQTS score ≥4

Electrocardiogram must be recorded in the absence of modifiers known to shorten the QT; genetic testing investigational for other indications.

Long QT Syndrome — Medically Necessary

Covered when ONE of the following groups is met

Asymptomatic with QTc or family history: Member is asymptomatic AND (1) confirmed prolonged QTc (greater than 460 ms prepuberty; greater than 480 ms adults) on resting ECG and/or provocative testing OR (2) close relative with clinical LQTS with unknown genetic status.QTc >460 ms (prepuberty) or >480 ms (adults)

Codes: 81403, 81406, 81407, 81413, 81414, 81479.

Symptomatic with cardiologist suspicion or Schwartz score: Member is symptomatic (eg syncope, cardiac arrest) AND (a) cardiologist-established strong clinical suspicion based on history, family history, and electrographic phenotype OR (b) Schwartz score ≥3.0, AND non-genetic causes of prolonged QTc have been excluded.Schwartz score ≥3.0

Testing of low-evidence genes discouraged in intermediate-probability cases; see policy concert notes.

Short QT Syndrome — Medically Necessary

Covered when ANY of the following are met

Electrocardiographic criteria: Member has a QTc ≤330 ms.QTc ≤330 ms

ECG must be recorded without modifiers that shorten QT.

SQTS diagnostic score: Member has an SQTS diagnostic score ≥4 points based on ECG, clinical history, family history, and genotype components; at least 1 point must be from the ECG section.SQTS score ≥4

Scoring rules and point limits per section apply.

Asymptomatic with affected relative: Member is asymptomatic AND has a first-degree relative with clinical SQTS whose genetic status is unknown.

Codes: 81403, 81406, 81413, 81414, 81479.

Brugada Syndrome — SCN5A Variant Analysis Medically Necessary

Covered when ALL of the following are met

ECG phenotype: Member meets qualifying Brugada ECG criteria (Type 1, Type 2, or Type 3 patterns with type conversions as specified, including response to sodium channel blocker challenge as applicable).ECG pattern definitions per policy

See policy for detailed ECG definitions and conversion rules.

Phenocopies excluded: Conditions causing Brugada phenocopy (for example myocardial ischemia, electrolyte disturbances, drug intoxications) have been ruled out.

Excluding phenocopies is required prior to genetic testing.

Clinical severity or family history: Member has recurrent syncope OR ventricular fibrillation OR self-terminating polymorphic ventricular tachycardia OR cardiac arrest OR a family history of sudden cardiac death.

SCN5A variant analysis codes: 81407, S3861; testing of other genes or broad panels for Brugada is investigational.

Catecholaminergic Polymorphic Ventricular Tachycardia — Medically Necessary

Covered when ALL of the following are met

No structural heart disease and qualifying clinical features: Member has no known structural cardiac abnormalities AND has at least one of the following: exercise- or emotion-triggered syncope; exercise/emotion-related palpitations or dizziness; sudden unexpected cardiac death triggered by stress/exercise; family history of juvenile sudden cardiac death triggered by exercise/emotion; exercise-induced bidirectional or polymorphic ventricular arrhythmias; or ventricular fibrillation in the setting of acute stress.

Codes: 81403, 81405, 81408, 81413, 81414, 81479; genetic testing investigational for other indications.

Familial Hypercholesterolemia Panels — Medically Necessary

Covered when ALL of the following are met

Elevated LDL-C and secondary causes excluded: Member has at least two elevated LDL-C measurements (including assessment after intensive lifestyle modification) AND no apparent secondary cause of hypercholesterolemia (for example hypothyroidism, diabetes, renal disease, nephrotic syndrome, liver disease, medications).

Document persistent LDL-C (two or more measurements); testing should include at minimum LDLR, APOB, and PCSK9.

Age- and LDL-C–based criteria: Children: LDL-C ≥190 mg/dL OR LDL-C ≥160 mg/dL with at least one qualifying family-history element. Adults: LDL-C ≥250 mg/dL OR LDL-C ≥190 mg/dL with qualifying family history OR LDL-C ≥160 mg/dL with qualifying family/personal history as specified in guideline-derived criteria.LDL-C thresholds as listed

Codes: 81401, 81405, 81406, 81407, 81479; consider expanded panels for phenocopies when appropriate.

Congenital Heart Malformation Panels — May be Medically Necessary

Covered when ALL of the following are met

Complex congenital malformation without known syndrome: Member has a complex congenital heart malformation (for example hypoplastic left heart, transposition of the great vessels, tetralogy of Fallot) AND the member's clinical features do not fit a known genetic disorder for which targeted testing could be performed (for example 22q11.2 deletion, Trisomy 21, Williams syndrome) AND prenatal teratogen exposure has been considered and ruled out when possible.

Genetic testing for simple congenital heart defects is considered investigational; codes: 81405, 81406, 81407, 81408, 81479.

Post-Heart Transplant Gene Expression (Peripheral Blood) — Medically Necessary

Covered when ALL of the following are met

Low-risk transplant patient within time window: Member has undergone heart transplant AND is at low risk for organ rejection AND transplant was performed at least 2 months ago and less than 5 years ago.>=2 months and <5 years post-transplant

Code: 81595; use for peripheral blood gene expression profiling (AlloMap) per ISHLT 2022 guidance.

Donor-derived Cell-free DNA — Medically Necessary

Covered when ALL of the following are met

Post-transplant testing interval: Member has undergone heart transplant AND peripheral blood donor-derived cell-free DNA testing has not been performed in the past 12 months.Not performed within past 12 months

Codes: 0118U, 0493U, 81479; default routine monitoring frequency adopted as once every 12 months absent specific guideline recommendations.

Society-recommended indications for genetic testing

Society recommendations indicate testing is recommended or may be considered in these specific scenarios:

Hypertrophic Cardiomyopathy (HCM): Genetic testing and family screening recommended for individuals meeting diagnostic criteria (maximal LV wall thickness ≥15 mm in adults) and for first-degree relatives of affected individuals.

ACCF/AHA and guideline references support targeted testing and cascade screening.

Dilated Cardiomyopathy (DCM): Genetic testing is useful in DCM patients and recommended for those with higher yield of pathogenic variants; consider testing even without familial context or associated clinical features.

EHRA/HRS and HFSA statements referenced.

Arrhythmogenic/ARVC criteria: Diagnosis based on Task Force major/minor criteria (imaging, biopsy, ECG, family history); genetic testing is relevant when a pathogenic mutation is identified or when family history exists.

Policy lists detailed imaging and ECG thresholds for major/minor criteria.

Guideline-based covered indications (select items)

Covered when meeting guideline-based clinical thresholds or guideline recommendations

FH testing indications (condensed from guideline text): Offer genetic testing to individuals with strong clinical index of suspicion for FH, including: (1) children with persistent LDL-C ≥160 mg/dL or adults with persistent LDL-C ≥190 mg/dL without secondary cause and with at least one first-degree relative similarly affected or premature CAD (or when family history unavailable); (2) children with persistent LDL-C ≥190 mg/dL or adults with LDL-C ≥250 mg/dL even without positive family history.LDL-C thresholds as stated

Evidence Grade IIa/B-NR; document two or more LDL-C measurements after lifestyle modification.

Consider genetic testing scenarios (FH): May be considered: children with LDL-C ≥160 mg/dL when parent LDL-C ≥190 mg/dL or family history; adults with no pre-treatment LDL-C but personal premature CAD and family history; adults with persistent LDL-C ≥160 mg/dL with family history and personal or family premature CAD.LDL-C thresholds as stated

Evidence Grade IIb/C-EO.

Updated coverage recommendations and criteria highlights

Updates to coverage criteria and background for genetic testing panels address when testing is recommended based on probability and guideline-derived diagnostic features.

LQTS - High probability: Molecular genetic testing should be offered to index patients with a high probability diagnosis of LQTS based on clinical history, family history, and ECG characteristics (per Wilde et al. 2022).Schwartz Score ≥3.5 or equivalent high-probability criteria

Testing of definitive LQTS genes (eg KCNQ1, KCNH2, SCN5A, CALM1-3) recommended; avoid low-evidence genes in intermediate-probability cases.

LQTS - Intermediate probability: For intermediate probability (for example prolonged QTc with Schwartz score 1.5–3.0), testing of genes with limited, disputed, or refuted evidence should not be performed; testing of established genes may be considered after extensive phenotypic investigation.Schwartz Score 1.5-3.0

Clinical phenotyping should precede testing.

Each listed multigene panel category in this policy (for example, comprehensive cardiomyopathy, comprehensive arrhythmia, combined arrhythmia/cardiomyopathy, hypertrophic, dilated, arrhythmogenic, restrictive, LQTS, SQTS, Brugada, CPVT, familial hypercholesterolemia, congenital malformation, and transplant-related assays) is considered investigational for all indications except for the specific clinical scenarios enumerated in the corresponding criteria sections. Examples of covered scenarios include diagnostic cardiomyopathy with supporting imaging or autopsy findings, first-degree relatives of affected individuals with specified sudden death/autopsy features, defined QTc/QT scoring thresholds for LQTS/SQTS, and transplant timing/low-risk status for selected peripheral blood tests. (See the individual criteria sections for the exact, condition-specific requirements.)

Providers should confirm that the member meets the precise, policy-stated clinical criteria (imaging thresholds, ECG/QTc thresholds, clinical scores, documented family-history/autopsy findings, or transplant timing and risk status) before ordering the panel; panels requested for indications outside those enumerated may be denied as investigational.

Use of the genetic tests and panel CPT/HCPCS codes listed in this policy is considered investigational for indications that are not explicitly enumerated in each section. Examples include ordering LQTS or SQTS multigene panels when the stated QTc or clinical-score thresholds are not met, using broad panels for Brugada when SCN5A-specific criteria are not satisfied, or using CPVT panels outside the described exercise/emotion–triggered clinical presentations.

The policy references expert-consensus guidance that limits diagnostic reporting and testing to well-established disease genes in many syndromes; testing beyond these enumerated indications or of genes with disputed validity may not be appropriate and could be denied.

Before diagnosing Brugada syndrome and proceeding with genetic testing, Brugada phenocopies must be excluded. Specified reversible causes such as myocardial ischemia, electrolyte disturbances, and drug intoxications should be ruled out per the policy and consensus guidance.

Only after phenocopies are excluded and the required ECG phenotype and clinical severity/family-history criteria are met should SCN5A testing be considered, as described in the Brugada criteria.

The criteria set for Left Ventricular Non-Compaction Cardiomyopathy panels has been retired and is no longer provided in this policy due to the rarity of testing. Requests for LV non-compaction testing should be evaluated under other applicable cardiomyopathy or focused testing guidance where relevant.

Because the dedicated LV non-compaction panel criteria were removed, providers should document the clinical rationale and consider alternative targeted panels when appropriate.

Testing of genes that have limited, disputed, or refuted evidence for association with Long QT Syndrome (LQTS) is discouraged in patients who have only an intermediate probability of LQTS (for example, Schwartz score in the 1.5–3.0 range or borderline QTc prolongation).

Consensus guidance cited in the policy recommends offering molecular testing of the established definitive LQTS genes to index patients with a high probability diagnosis, but avoiding low-evidence genes for intermediate-probability cases unless extensive phenotypic evaluation has been performed to justify such testing.

Genetic testing for restrictive cardiomyopathy using a broad multigene panel (CPT 81439) is considered investigational and therefore not medically necessary under this policy. There are no medical-necessity criteria provided for RCM panels in the policy.

When restrictive physiology overlaps with HCM or DCM phenotypes, clinicians should consider testing focused HCM or DCM gene panels per those established criteria rather than an RCM multigene panel.

For Brugada syndrome, genetic testing is restricted to analysis of SCN5A when the policy's Brugada clinical and ECG criteria are met; testing of other genes or broad multigene panels for Brugada is considered investigational.

Additionally, post-transplant gene expression profiling performed on tissue (CPT/HCPCS 0087U) is considered investigational per the policy and may be denied.

Consistent with expert consensus, the policy states that testing of low-evidence LQTS genes in patients with only intermediate probability of LQTS is not recommended. Such testing is unlikely to be diagnostically helpful and may lead to uncertain or misleading results unless substantial additional phenotypic evidence supports broader testing.

Clinicians should prioritize testing of well-established LQTS genes for high-probability patients and document extensive phenotyping if considering broader gene testing in intermediate-probability cases.

As part of the recent revisions, references to certain CPT code 81404 were removed from multiple panel sections. These code-list updates reflect changes to which CPT references apply to specific panel criteria; providers should use the appropriate, current panel code as directed in each criteria section and verify billing codes prior to submission.

Removal of a CPT reference from a panel section does not itself change the clinical criteria; it alters the code mapping and billing guidance included in the policy.

The policy explicitly describes the use of low-evidence or disputed genes to establish a diagnosis of LQTS in patients with only intermediate clinical probability as inappropriate. Such testing is discouraged and may be deemed not medically necessary if not supported by the documented phenotype and extensive prior evaluation.

Providers should follow the policy's LQTS coverage criteria and the referenced consensus guidance when selecting gene content for testing and clearly document the clinical rationale for any expanded testing beyond established genes.

Coding and Procedure Codes

Comprehensive Cardiomyopathy PanelsCPT

81439

Comprehensive cardiomyopathy panel (example CPT shown in document)

Comprehensive Arrhythmia Panelsmixed

81413	Comprehensive arrhythmia panels (example)
81414	Comprehensive arrhythmia panels (example)
0237U	Genomic Unity Cardiac Ion Channelopathies Analysis (example HCPCS/other)

Long QT Syndrome PanelsCPT

81403	Long QT Syndrome panels (example)
81406	Long QT Syndrome panels (example)
81407	Long QT Syndrome panels (example)
81479	Long QT Syndrome panels (example)

Syndrome-specific Panels (Brugada, CPVT, others)CPT

81404	SCN5A variant analysis / Brugada-associated testing (example)
81405	CPVT panel related code (example)
81408	CPVT panel related code (example)

Example ICD-10 Codes referenced for cardiac panelsICD-10

I42.0	Dilated cardiomyopathy (example ICD-10 listed)
I42.1	Hypertrophic cardiomyopathy (example ICD-10 listed)
I45.81	Long QT and conduction disorder code listed as example
Z13.71	Encounter for genetic counseling (example ICD-10 listed)
Z82.41	Family history of sudden cardiac death (example ICD-10 listed)
Z84.81	Family history of genetic disease (example ICD-10 listed)

Covered CPT/HCPCS codes referencedmixed

81439	Comprehensive cardiomyopathy / multigene panel (as used throughout cardiomyopathy and arrhythmia panels)
0237U	Comprehensive arrhythmia panel (proprietary code referenced)
81413	Arrhythmia panel CPT code (referenced)
81414	Arrhythmia panel CPT code (referenced)
81403	LQTS / SQTS multigene panel CPT code (referenced)
81406	Multigene panel CPT code (referenced)
81407	Multigene panel CPT code (referenced)
81479	Unlisted molecular pathology procedure (used for some panels like AlloSure)
81595	AlloMap (post heart transplant gene expression panel)
0493U	Prospera (dd-cfDNA test) HCPCS code

1–10 of 14

1/2

Other panels referencedCPT

81401	Familial hypercholesterolemia panel CPT code (referenced)
81405	Congenital heart malformation / multigene panel CPT code (referenced)
81406	Panel CPT code
81408	Panel CPT code

Panels referenced across arrhythmia indicationsCPT

81403	Tiered multigene panel code (listed for LQTS and other panels)
81406	Tiered multigene panel code
81407	Tiered multigene panel / single gene testing (used for SCN5A in Brugada section)
81413	Large multigene panel
81414	Large multigene panel
81479	Other molecular pathology procedures / unlisted

Short QT Syndrome panel codesCPT

81403	Multigene panel (listed for SQTS)
81406	Multigene panel
81413	Large multigene panel
81414	Large multigene panel
81479	Other molecular pathology procedures

Brugada SCN5A testingmixedCovered

81407	SCN5A variant analysis
S3861	Proprietary code referenced for SCN5A analysis

Cardiomyopathy and FH panel codesCPT

81405	Multigene panel (used in cardiomyopathy and FH sections)
81408	Multigene panel
81401	Familial hypercholesterolemia panel reference

Transplant monitoring codesmixed

81595	Post heart transplant gene expression panel (peripheral blood)
0118U	Donor-derived cell-free DNA (proprietary code)
0493U	Donor-derived cell-free DNA (proprietary code)

Donor-derived cfDNA ancillary codeCPT

81479

Other molecular pathology procedures (used with donor-derived cfDNA)

Panel CPT codes mentioned as removedCPT

81404

CPT code removed from certain panel sections in revisions

Policy reference codes addedHCPCS

0493U

Prospera (Natera) donor-derived cell-free DNA test (listed in Policy Reference Table)

HCM myocardial wall thickness — diagnostic thresholds

HCM myocardial wall thickness (adults)>= 15 mm

HCM myocardial wall thickness (children)z-score >= 2 (BSA‑adjusted)

Imaging modalitiesMeasured by echocardiogram or cardiac MRI

DCM systolic dysfunction — diagnostic threshold

Provider Actions, Prior Authorization, and Documentation

Prior Authorization

Prior Authorization Required

Prior Authorization Required: Prior authorization is required per payer processes for the listed multigene panel and proprietary test codes. Inclusion of codes in this document is informational and does not guarantee coverage — confirm prior authorization and coding guidance before ordering or submitting claims.

Affected codes include panel and procedure codes referenced in criteria (e.g., comprehensive cardiomyopathy and arrhythmia panels, LQTS panels, SCN5A analysis, donor-derived cfDNA codes such as 0118U, 0493U, 81479, and gene expression/tissue codes such as 81595, 0087U).
Proprietary tests (examples: AlloMap, AlloSure, Prospera) imply prior authorization requirement when listed.

Documentation Required

Required Clinical Documentation

Documentation Requirements: Provide clear clinical documentation to support medical necessity per the relevant panel criteria. Documentation should demonstrate diagnostic measurements, family history, and exclusion of non-genetic causes where applicable.

Background and Rationale

Hereditary arrhythmias and cardiomyopathies can present with a wide spectrum of clinical findings, frequently involve multiple genes, and may have implications for prognosis, targeted management, and family cascade testing. Identification of a pathogenic or likely pathogenic variant in an affected individual enables targeted testing of at-risk relatives and can inform clinical care decisions.

The policy aligns testing indications with established diagnostic thresholds (for example, imaging-based HCM wall thickness criteria, DCM definitions including left ventricular enlargement with systolic dysfunction, QTc and SQTS numeric cutoffs, and Task Force–style criteria for arrhythmogenic cardiomyopathy) and references society guidance to prioritize testing of well-validated genes for specific syndromes.

Definitions and Clinical Thresholds

Congenital heart defects — definition and prevalence

Congenital heart defects (prevalence)Structural heart defects present at birth; prevalence ~1–1.2% of live births

EtiologyCaused by genetic and environmental factors

Clinical importanceGenetic diagnosis can aid recurrence risk, extracardiac evaluation, neurodevelopmental risk, and prognosis

Cascade testing — definition and application

Cascade testing definitionTesting of asymptomatic family members for a pathogenic or likely pathogenic variant identified in an affected individual

Use caseEnables identification of at‑risk relatives who may benefit from intervention

Policy Changes and Revision Notes

2024-04revised

Retired Left Ventricular Non-Compaction Cardiomyopathy panel criteria and made minor wording and coding clarifications across transplant and FH sections (Concert Note indicates retirement of LVNC criteria and multiple coding/reference updates).

2023-03revised

Extensive edits to multiple panels: clarified criteria language (e.g., changed 'sudden unexplained cardiac death' wording), adjusted age thresholds, added autopsy language, renamed panels (e.g., ARVC to Arrhythmogenic Cardiomyopathy), and removed select CPT references (e.g., 81404) from some sections.

2022added

Policy Summary

Payermhn

PolicyConcert Genetic Testing: Cardiac Disorders — Coverage Criteria

Policy CodePolicy N/A

Change TypeCriteria updates, added transplant and FH guidance, coding/table revisions

Effective DateN/A

Next Review DateN/A

SourceLink

On This Page

Restrictive Cardiomyopathy (RCM): Consider HCM or DCM gene panels for RCM given overlap; differentiate transthyretin (TTR) amyloidosis clinically because of different management and consider targeted testing accordingly.

ACMG guidance noted; RCM panels themselves considered investigational in policy.

Long QT Syndrome (LQTS): Offer molecular genetic testing for definitive LQTS genes (for example KCNQ1, KCNH2, SCN5A, CALM1-3) to index patients with high probability (Schwartz score ≥3.5) and to asymptomatic patients meeting QTc thresholds (QTc cutoffs cited); testing of limited/disputed genes not recommended for intermediate-probability cases.Schwartz score ≥3.5 or specified QTc cutoffs

Wilde et al. 2022 consensus referenced.

Short QT Syndrome (SQTS): Genetic testing recommended for patients satisfying diagnostic criteria (QTc ≤330 ms or SQTS diagnostic score ≥4) and for index patients with high probability; cascade testing for relatives when mutation identified.QTc ≤330 ms; SQTS score ≥4

HRS/EHRA/APHRS and Wilde et al. 2022 referenced.

Brugada Syndrome: Suspect Brugada in appropriate clinical presentations with qualifying ECG patterns; exclude phenocopies before diagnosis; report primarily SCN5A results as other genes have disputed validity.

GeneReviews and expert consensus referenced.

CPVT: Consider genetic testing when CPVT is suspected based on exercise- or emotion-triggered syncope or arrhythmias in a structurally normal heart with normal resting ECG and qualifying exercise- or emotion-induced ventricular arrhythmias.

Guidance summarized from society statements.

Familial Hypercholesterolemia (FH): Offer genetic testing to individuals with strong clinical suspicion: children with persistent LDL-C ≥160 mg/dL or adults ≥190 mg/dL without secondary cause and with affected first-degree relative (or higher-threshold scenarios); test at minimum LDLR, APOB, PCSK9 and consider expanded panels for phenocopies.LDL-C thresholds as stated in guideline excerpts

JACC 2018 guidance summarized.

Post-heart transplant peripheral blood GEP: Use peripheral blood gene expression profiling (AlloMap) in appropriate adult heart transplant recipients between 2 months and 5 years post-transplant to identify low-risk patients and reduce biopsy frequency per ISHLT 2022 (Class IIa, Level of Evidence B).2 months to 5 years post-HT

Applies to low-risk adult recipients as defined by ISHLT.

Post-heart transplant tissue GEP (MMDx): Assessment of rejection-associated gene transcripts in allograft tissue (MMDx) can improve discrimination of rejection types, though availability is limited and not widespread outside North America.N/A

Clinical utility recognized; availability limited.

HCM diagnostic criteria:

Clinical diagnosis in adults can be established by imaging showing maximal end-diastolic wall thickness ≥15 mm in the absence of other causes; 13–14 mm may be diagnostic in family members or with a positive genetic test; in children use BSA-adjusted z-score ≥2.

Supports when genetic testing/panel coverage is appropriate.

Post-transplant dd-cfDNA monitoring: Donor-derived cell-free DNA testing (for example Prospera 0493U) is included in the policy reference table; absent specific guideline regimens, a default routine coverage frequency of once every 12 months is adopted for monitoring.1 per 12 months default

May be subject to clinical justification for different frequencies.

Dilated cardiomyopathy systolic dysfunctionEjection fraction (EF) < 50%

Required DCM featuresLeft ventricular enlargement plus systolic dysfunction

Non-genetic causes to excludePrior MI, valvular/congenital disease, toxins, thyroid disease, inflammatory/infectious conditions, severe hypertension, radiation

ARVC imaging thresholds — example measurements

ARVC — Rao RVEDV/BSA (male/female)>110 mL/m2 (male) / >100 mL/m2 (female)

ARVC — RVEFRVEF <40%

ARVC — PLAX RVOTPLAX RVOT >32 mm (PLAX/BSA >19 mm/m2)

Additional imaging/ECG criteriaRegional RV akinesia/dyskinesia, fractional area change thresholds, endomyocardial biopsy findings per Task Force criteria

QTc thresholds — prolonged and short definitions

Prolonged QTc — adults>480 ms

Prolonged QTc — prepuberty (children)>460 ms

Short QTc (SQTS) cutoff<= 330 ms

Long QTc diagnostic thresholds

Long QTc diagnostic threshold — prepubertyQTc >460 ms

Long QTc diagnostic threshold — adultsQTc >480 ms

Supporting guidanceTesting recommended for asymptomatic patients meeting QTc thresholds per society guidance

Short QTc diagnostic thresholds

SQTS QTc diagnostic cutoffQTc ≤ 330 ms (SQTS)

Cascade testingRecommend cascade testing for relatives when a pathogenic variant is identified

Familial hypercholesterolemia — LDL-C thresholds and testing scope

Children — FH LDL-C thresholdsLDL-C >= 190 mg/dL OR >=160 mg/dL with qualifying family history

Adults — FH LDL-C thresholdsLDL-C >= 250 mg/dL OR >=190 mg/dL with qualifying family history OR >=160 mg/dL with specified family/personal history

Minimum genes to includeAt minimum test LDLR, APOB, and PCSK9 (sequencing + deletion/duplication as specified)

Post-transplant timing window for peripheral blood gene expression panels

Post-transplant peripheral blood GEP timing window>= 2 months post-transplant and < 5 years post-transplant

Patient risk statusApplies to low‑risk transplant recipients as defined by ISHLT guidance

Code exampleAlloMap (81595) referenced for peripheral blood GEP

LVEF — systolic dysfunction threshold

LVEF threshold for systolic dysfunctionLeft ventricular ejection fraction (LVEF) < 50%

Measurement methodsEstimated from 2D echocardiogram, cardiac MRI, or left ventricular angiogram

ContextPart of DCM diagnostic criteria requiring LV enlargement plus exclusion of non‑genetic causes

HCM imaging diagnostic wall thickness — details

HCM adult wall thickness threshold>= 15 mm (maximal end-diastolic wall thickness)

Borderline values in familial context13–14 mm may be diagnostic in family members or with a positive genetic test

Pediatric assessmentUse BSA‑adjusted z‑score >= 2 for children

SQTS QTc cutoff and diagnostic notes

SQTS QTc cutoff (policy & consensus)QTc <= 330 ms

SQTS score roleDiagnostic score >=4 supports high‑probability SQTS

ECG recording noteECG must be recorded without modifiers known to shorten the QT when measuring QTc

FH LDL‑C thresholds for testing (children and adults)

FH testing threshold — children (guideline)Children: persistent LDL-C >=160 mg/dL (two or more measurements after lifestyle modification), or >=190 mg/dL

FH testing threshold — adults (guideline)Adults: persistent LDL-C >=190 mg/dL (consider >=250 mg/dL in higher suspicion)

Total cholesterol surrogate guidanceIf LDL-C unavailable, total cholesterol >=320/260/230 mg/dL correspond to LDL-C >=250/190/160 mg/dL respectively

LQTS Schwartz score categories

LQTS Schwartz score — high probabilitySchwartz score >= 3.5 (high probability)

Intermediate probabilitySchwartz score 1.5–3.0

Low probabilitySchwartz score <= 1

LDL‑C thresholds for FH consideration

LDL-C threshold — childrenChildren: >=160 mg/dL (consider testing if >=190 mg/dL in child or parent)

LDL-C threshold — adultsAdults: >=190 mg/dL (consider >=250 mg/dL even without family history for high suspicion)

Minimum documentationTwo or more LDL-C measurements including after intensive lifestyle modification

Total cholesterol surrogates when LDL‑C unavailable

Total cholesterol surrogates for LDL-CTotal cholesterol >=320, 260, and 230 mg/dL correspond to LDL-C >=250, 190, and 160 mg/dL respectively

When to useUse when LDL-C values are unavailable (based on guideline text)

Measurement requirementRequires two or more measurements including after intensive lifestyle modification when possible

HCM imaging diagnostic wall thickness — clinical guidance

HCM adult imaging thresholdMaximal end-diastolic wall thickness >= 15 mm in adults

Lower thresholds in relatives13–14 mm may be diagnostic in family members or with a positive genetic test

Pediatric criterionUse BSA‑adjusted z‑score >=2 for children

Cardiomyopathy panels: imaging-confirmed diagnosis (e.g., for HCM maximal end-diastolic wall thickness ≥15 mm in adults; for DCM LV enlargement and systolic dysfunction with EF <50%), or autopsy findings for affected relatives.
Arrhythmia panels: documentation of family history details (age at SCD/SUD, autopsy findings), and results of clinical testing (ECG, echocardiogram, stress testing, pharmacologic provocation) demonstrating non-diagnostic reversible/structural causes when applicable.
LQTS/SQTS: serial ECG/QTc values, Schwartz score when used, and documentation ruling out reversible causes (medications, electrolyte abnormalities, structural disease).
Familial Hypercholesterolemia (FH): at least two LDL-C measurements including after intensive lifestyle modification (or total cholesterol surrogates if LDL-C unavailable), assessment for secondary causes, and relevant family history.
Post-transplant testing: documentation that donor-derived cfDNA or gene expression testing has not been performed in the past 12 months when qualifying for routine dd-cfDNA.
Include consultation notes when an expert in cardiac genetics is involved in testing decision or interpretation.

Documentation Required

Expert Consultation Recommended

Expert Consultation Recommended: Due to complexity of testing and potential for misinterpretation, the decision to perform genetic testing and the interpretation of results should be made by, or in consultation with, an expert in cardiac genetics.

Document the consulting/examining cardiac genetics expert in the medical record when available.

Denial Risk

Long QT Syndrome — Investigational Uses and Gene Testing Limitations

LQTS Testing Limits and Investigational Uses: Genetic testing for Long QT Syndrome (LQTS) via multigene panels is medically necessary only when criteria are met; testing outside these indications is investigational. In patients with intermediate probability of LQTS (Schwartz score ~1.5–3.0), testing of genes with limited, disputed, or refuted evidence should not be performed; testing may be limited to established LQTS genes (e.g., KCNQ1, KCNH2, SCN5A) to help rule out diagnosis after extensive phenotypic evaluation.

Medically necessary scenarios include asymptomatic members with confirmed prolonged QTc (thresholds per age) or symptomatic members meeting specified clinical criteria and after exclusion of non-genetic causes.
Intermediate-probability patients: restrict to established genes; avoid low-evidence genes.

Denial Risk

Brugada — Gene/Test Restrictions and Phenocopy Exclusion

Brugada Testing Restrictions and Phenocopy Exclusion: SCN5A-only testing is supported when Brugada criteria are met; multigene or other-gene testing for Brugada is investigational. Before testing, Brugada phenocopies (e.g., myocardial ischemia, electrolyte disturbances, drug intoxication) must be excluded.

SCN5A variant analysis (e.g., 81407, S3861) is medically necessary only when ECG and clinical criteria are met and phenocopies are ruled out.
Testing of additional genes or broad panels for Brugada is investigational and may be denied.

Billing Rule

Panel Sequencing and Combined Testing Philosophy

Panel Sequencing / Combined Testing Philosophy: When a member meets criteria for both a phenotypically-focused comprehensive arrhythmia panel and a comprehensive cardiomyopathy panel, the member should meet criteria for the combined test; however, large unfocused panels are discouraged unless clinically justified.

If a combined panel is performed, use the appropriate combined panel code and ensure documentation supports meeting criteria for both component panels.

Documentation Required

FH Minimal Gene Set and Documentation

Familial Hypercholesterolemia (FH) — Minimal Gene Set and Documentation: FH testing should at minimum include LDLR, APOB, and PCSK9 with sequencing and deletion/duplication analysis as specified. Documentation must include persistent LDL-C measurements (two or more, including after lifestyle modification) or acceptable total cholesterol surrogates when LDL unavailable, assessment for secondary causes, and relevant family history.

Consider expanded lipid disorder panels (LDLR, APOB, PCSK9, LDLRAP1, LIPA, ABCG5, ABCG8, APOE) when phenocopy conditions are possible.
Children/adults diagnostic LDL-C thresholds and measurement requirements per criteria must be documented.

Documentation Required

HCM Diagnostic Documentation

Hypertrophic Cardiomyopathy (HCM) Diagnostic Documentation: For HCM, document imaging-based diagnostic criteria (e.g., maximal end-diastolic wall thickness ≥15 mm in adults in the absence of another cause of hypertrophy). For family or borderline cases, document appropriate BSA-adjusted z-scores or concordant genetic findings when applicable.

Postmortem testing: documentation that autopsy samples and findings are available when postmortem genetic testing is used to aid diagnosis in families without living affected members.

Step Therapy

Step Therapy / Sequencing

Step Therapy / Sequencing: No specific step therapy requirements are stated in this policy excerpt. However, clinical sequencing expectations are articulated (e.g., prefer phenotype-targeted panels, restrict testing of low-evidence genes in intermediate LQTS).

Follow policy criteria hierarchy: targeted/phenotype-driven testing preferred; reserve broad panels only when clinical criteria justify combined coverage.

Denial Risk

No Explicit Procedural Denial Triggers — Policy Notes

No Explicit Procedural Denial Triggers Listed: The policy does not enumerate specific procedural denial triggers in this section; however, tests performed outside stated indications, tests of low-evidence genes in intermediate-probability LQTS, post-transplant tissue expression panels, and non-supported multigene Brugada testing may be denied.

Post heart transplant gene expression panels via tissue (e.g., 0087U) are considered investigational and may be denied.
Donor-derived cfDNA and peripheral gene expression tests require adherence to frequency (e.g., dd-cfDNA not performed in past 12 months) and indication criteria to qualify for coverage.

Relation to panelsPerformed when a pathogenic/likely pathogenic variant is identified in an index case

Left ventricular hypertrophy (LVH) — diagnostic thresholds

Left ventricular hypertrophy (LVH) threshold — adultsMyocardial wall thickness >= 15 mm by echocardiogram or MRI

LVH threshold — childrenz-score >= 2 (BSA‑adjusted) for pediatric assessments

Measurement modalitiesEchocardiogram or cardiac MRI

Prolonged QTc and Short QTc thresholds — definitions

Prolonged QTc definitionProlonged QTc >480 ms in adults; >460 ms prepuberty (children)

Short QTc (SQTS) definitionQTc <= 330 ms

Scoring/diagnostic supportSQTS diagnostic score >=4 supports high‑probability diagnosis

Close relative — family relationship definitions

Close relative — definitionFirst-, second-, and third-degree blood relatives (first-degree: parents, siblings, children)

Second-degree examplesGrandparents, aunts/uncles, nieces/nephews, grandchildren, half‑siblings

Third-degree examplesGreat grandparents, great aunts/uncles, great grandchildren, first cousins

Phenocopy — definition and implications

Phenocopy — definitionA trait resembling a genotype-driven trait that occurs in an individual who is not a carrier of that genotype

Clinical implicationExclude phenocopies (eg drug effects, ischemia) before genetic interpretation in conditions like Brugada

Example genesSome phenocopy genes overlap with FH phenotypes (see FH panel guidance)

Sudden cardiac death (SCD) — definition

Sudden cardiac death (SCD) — definitionDeath due to a cardiovascular cause that occurs within one hour of symptom onset

Clinical relevanceUsed in family history and autopsy‑based criteria for panel coverage

Related termSudden unexplained death (SUDS) refers to autopsy‑negative SCD in an otherwise healthy individual

Hypertrophic cardiomyopathy (HCM) — clinical recognition

HCM clinical recognitionMaximal left ventricular wall thickness >=15 mm in adults

Family/relatives note13–14 mm may be diagnostic in family members or with positive genetic test

Pediatric considerationUse size‑adjusted z‑score >=2 in children

Dilated cardiomyopathy (DCM) — definition and thresholds

Dilated cardiomyopathy (DCM) criteriaEstablished with left ventricular enlargement and systolic dysfunction; systolic dysfunction often defined as LVEF <50%

Typical measurementsLV enlargement by echo or MRI; EF from echo, MRI, or LV angiogram

Non-genetic exclusionRule out ischemic, valvular, toxic, inflammatory, endocrine causes

Brugada syndrome (BrS) — diagnostic considerations

Brugada syndrome — clinical suspicionSuspect with syncope, ventricular fibrillation, family history of SCD, or characteristic ECG patterns

Exclude phenocopiesExclude myocardial ischemia, electrolyte disturbances, and drug intoxications before diagnosis

ECG typesType 1–3 ECG patterns with specified criteria; sodium channel blocker challenge may be used

Persistent LDL‑C and FH testing criteria

Persistent LDL-C — definitionTwo or more measurements, including assessment after intensive lifestyle modification

FH testing thresholdsChildren >=160 mg/dL; Adults >=190 mg/dL (higher thresholds for stronger suspicion)

Minimum gene set for FH panelsLDLR, APOB, PCSK9 (include sequencing and deletion/duplication analysis)

Phenocopy genes — FH panel considerations

Phenocopy genes — FH panelsExpanded panel genes with phenotypic overlap (eg LDLRAP1, LIPA, ABCG5, ABCG8, APOE)

When to consider expanded panelsTo improve diagnosis of conditions that mimic FH and may require different therapies

Minimum testingAt minimum test LDLR, APOB, PCSK9; include deletion/duplication analysis for LDLR and PCSK9

Sudden unexplained death (SUDS) — terminology update

Sudden unexplained death (SUDS) terminology updatePolicy updated to use 'unexplained sudden cardiac arrest' and title SUDS as 'Sudden unexplained death (SUDS)'

Definition inclusionSpecific definitions for sudden cardiac arrest and SUDS added to Definitions section

ImpactUsed to refine family‑history and postmortem coverage criteria

Added Post-Heart Transplant Gene Expression Panels for Rejection Risk via Tissue and updated peripheral blood GEP guidance to align with ISHLT 2022 recommendations; also added donor-derived cfDNA (Prospera 0493U) to the policy reference table and adopted a default routine monitoring frequency of once every 12 months.

2025-01revisedLatest

Semi-annual review updates: formatted coverage criteria to separate children and adults for FH panels, replaced older guideline citations with Wilde et al. 2022 expert consensus for LQTS and other panels, and removed outdated references; clarified investigational status for restrictive cardiomyopathy panels.