Concert genetic testing for cardiovascular conditions
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This policy governs coverage and medical necessity criteria for genetic testing (multigene panels and targeted testing) for inherited and sporadic cardiovascular conditions for members of Arizona Complete Health (Centene-affiliated plans). It affects ordering clinicians, genetic counselors, and billing staff submitting claims for cardiovascular genetic testing.
Throughout the criteria, wording and age thresholds were updated (e.g., changed younger to 'before age 50 years' for certain arrhythmia criteria) and multiple diagnostic language clarifications were made (e.g., 'sudden unexplained cardiac death' changed to 'sudden cardiac death or sudden unexplained death').
For Short QT Syndrome (SQTS) a diagnostic cutoff of QTc ≤ 330 ms is endorsed and genetic testing is recommended for index patients with diagnostic criteria or SQTS diagnostic score ≥ 4; cascade testing recommended for at-risk family members when a pathogenic variant is identified.
For Brugada syndrome, phenotype and ECG definitions refined (e.g., ECG J-wave elevation ≥ 2 mm) and endorsement that Brugada phenocopies should be excluded before diagnosis; recommendation that only SCN5A has strong gene-disease validity for diagnostic reporting.
Added Brugada, CPVT and Familial Hypercholesterolemia (FH) panels with clinical guidance and updated multiple cardiomyopathy panel criteria and references (EHRA/HRS 2022 consensus added).
Post heart transplant gene expression panels: added peripheral blood and tissue criteria and changed monitoring defaults (routine monitoring frequency default of once every 12 months).
Familial Hypercholesterolemia (FH) criteria updated to align with 2018 ACC guidelines and formatting separated for adults and children; removed prior requirement that testing be offered based solely on strong clinical suspicion of any age.
Long QT Syndrome (LQTS) guidance updated to reference the 2022 EHRA/HRS/APHRS/LAHRS expert consensus and clarified which genes are definitive for testing.
Medical Necessity and Coverage Criteria
Comprehensive Cardiomyopathy Panels
Covered when ANY of the following are met:
Multigene panels targeted to the cardiomyopathy phenotype observed are recommended by professional guidelines.
Comprehensive Arrhythmia Panels
Covered when ANY of the following are met:
Current evidence does not support comprehensive arrhythmia panels for other indications.
Comprehensive Arrhythmia and Cardiomyopathy (Sudden Cardiac or Unexplained Death) Panels
Covered when ALL of the following are met:
Comprehensive panels including genes for both cardiomyopathies and arrhythmias are medically necessary only when both sets of criteria are met.
Hypertrophic Cardiomyopathy Panels
Covered when ALL of the following are met:
If a panel is performed, the appropriate panel code should be used. Current evidence does not support testing for other indications.
Comprehensive Arrhythmia and Cardiomyopathy Panels
Covered when ALL of the following are met
Comprehensive panels that include both cardiomyopathy and arrhythmia genes are only medically necessary when both individual panel criteria are satisfied.
Hypertrophic Cardiomyopathy (HCM) Panels
Covered when ALL of the following are met
Testing not supported for other indications.
Dilated Cardiomyopathy (DCM) Panels
Covered when ALL of the following are met
Testing not supported for other indications.
Arrhythmogenic Cardiomyopathy (ARVC/ACM) Panels
Covered when ANY of the major criteria OR combinations of minor criteria are met as specified
Major criteria detailed in policy chunks 21–23.
Minor criteria ranges detailed in policy chunks 23–24.
Restrictive Cardiomyopathy (RCM) Panels
No covered indications specified.
Long QT Syndrome (LQTS) Panels
Covered when ONE of the following scenarios is met
See alternate symptomatic criteria below.
Non-genetic causes must be excluded (eg, QT-prolonging drugs, electrolyte abnormalities, structural heart disease).
Short QT Syndrome (SQTS) Panels
Covered when ANY of the following are met
Electrocardiogram must be recorded without modifiers that shorten QT; point system and measurement notes provided in policy.
Brugada Syndrome (BrS) - SCN5A Variant Analysis
Covered when ALL of the following are met
Testing genes other than SCN5A or broad multigene Brugada panels is not supported.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panels
Covered when ALL of the following are met
Testing not supported for other indications.
Familial Hypercholesterolemia (FH) Panels
Covered when ALL of the following are met
Testing not supported for other indications; panels should include at minimum LDLR/APOB/PCSK9 and include LDLR deletion/duplication analysis as indicated.
Congenital Heart Malformation Panels
Covered when ALL of the following are met
Testing not supported for simple congenital heart defects.
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panels
Covered when ALL of the following are met
A multigene panel including HTAD genes is the preferred approach; testing not supported for other indications.
Hereditary Hemorrhagic Telangiectasia (HHT) Panels
Covered when ALL of the following are met
Testing not supported for other indications.
HHT multigene panel — medically necessary criteria
Covered when ALL of the following are met:
Cascade genetic testing of at‑risk family members recommended for pathogenic/likely pathogenic variants.
Genetic testing in SCA/SUD and unexplained cardiac arrest
Policy guidance:
Concert note: genetic evaluation of decedents and families should be phenotype‑focused; unfocused testing discouraged for routine patient care.
Hypertrophic cardiomyopathy (HCM) testing guidance
Clinical/testing guidance drawn from ACC/AHA and Concert notes:
ACC/AHA guidance; multigene panels recommended over serial single‑gene testing for genetically heterogeneous cardiomyopathies.
Dilated cardiomyopathy (DCM) testing guidance
Guideline statements on genetic testing in DCM:
EHRA/HRS/APHRS/LAHRS 2022 expert consensus.
Long QT syndrome (LQTS) testing criteria
Testing recommendations based on pretest probability:
EHRA/HRS/APHRS/LAHRS guidance; avoid genes with limited/disputed evidence in intermediate probability cases.
Short QT syndrome (SQTS) testing criteria
Testing recommendations when diagnostic criteria met:
Testing of KCNJ2 and SLC4A3 may be considered in high‑probability index patients.
Short QT Syndrome — Coverage Criteria
Short QT Syndrome (SQTS) — covered when diagnostic criteria are met
Cascade testing for at‑risk family members is recommended when a disease‑causing mutation is identified.
Brugada Syndrome — Coverage Criteria
Brugada Syndrome — covered when phenotype and ECG criteria are met
SCN5A is the gene with strongest diagnostic validity; reporting other genes in diagnostic reports is discouraged due to disputed ClinGen validity.
Familial Hypercholesterolemia — Coverage Criteria
Familial Hypercholesterolemia (FH) — covered when clinical suspicion thresholds met
Cascade testing recommended for at‑risk relatives; testing may include expanded lipid disorder gene panels when phenotype indicates.
TAAD / HTAD — Coverage Criteria
Heritable Thoracic Aortic Disease (HTAD/TAAD) — covered when risk factors present
Gene list provided in policy (eg ACTA2, FBN1, MYH11, SMAD3, TGFBR1/2, etc.).
HHT — Coverage Criteria
Hereditary Hemorrhagic Telangiectasia (HHT) — covered when clinical criteria or family mutation present
Multigene panels including ACVRL1, ENG, SMAD4 may be considered; testing recommended when Curaçao criteria or suggestive findings present.
Summary of revised coverage criteria
Policy updates reorganized panel-specific criteria, added new panels, and moved known familial variant analysis to a general policy.
See individual panel sections in full policy for exact AND/OR logic.
Current evidence does not support use of comprehensive multigene cardiomyopathy panels outside the specific indications enumerated in this policy. The policy limits coverage to members who meet the listed cardiomyopathy criteria (for example, a documented diagnosis of cardiomyopathy or qualifying family history with relevant autopsy findings) and states that panels targeted to the observed cardiomyopathy phenotype are recommended by professional guidelines. Ordering broader, non‑phenotype‑directed cardiomyopathy panels for other indications may be denied.
Comprehensive panels that combine cardiomyopathy and arrhythmia genes are only medically necessary when the member meets both the Comprehensive Cardiomyopathy Panels and Comprehensive Arrhythmia Panels clinical criteria; such combined panels are not supported for other indications.
For each listed cardiovascular condition, the policy explicitly states that genetic testing via multigene panel is not supported for indications beyond those specified. Coverage is limited to the condition‑specific clinical criteria (for example, arrhythmia panels require qualifying family history or unexplained sudden cardiac arrest with non‑diagnostic clinical testing). Requests for panel testing outside these enumerated indications are not supported and may be denied.
The policy further emphasizes phenotype‑focused testing: hypothesis‑free or unfocused large panels (including routine WES/WGS) are discouraged in the absence of a clinical phenotype and may be considered only in research contexts.
The policy discourages hypothesis‑free or unfocused genetic testing for sudden cardiac arrest/death when a clinical phenotype is not established. Specifically, routine use of large unfocused gene panels, whole‑exome sequencing (WES), or whole‑genome sequencing (WGS) for SCD/SCA without a defined phenotype is not recommended for routine patient care and may not be supported for coverage; such testing may be acceptable only as part of a research effort.
When genetic evaluation is pursued in SCA/SUD, testing should be phenotype‑focused and integrated with multidisciplinary clinical assessment; documentation of phenotype and prior non‑diagnostic evaluations is expected to support testing.
Before diagnosing Brugada syndrome and proceeding with genetic testing, Brugada phenocopies (for example, myocardial ischemia, electrolyte disturbances, or drug intoxications) should be excluded. The policy requires that conditions causing a Brugada phenocopy be ruled out prior to diagnosis and genetic testing.
The coverage criteria for Brugada limit diagnostic genetic testing to situations where ECG phenotype and clinical features are met and phenocopies have been excluded; this operational refinement aligns with recent society guidance.
Left ventricular non‑compaction cardiomyopathy panel criteria were retired in the revisions and are now listed as investigational/removed due to the rarity and limited evidence supporting routine panel testing for this indication. The policy summary notes that some cardiomyopathy panel criteria were reworded or retired (including LV non‑compaction).
As with other retired/removed panel indications, the policy states that current evidence does not support multigene panel testing for these removed indications.
Where state Medicaid coverage provisions conflict with this clinical policy, the state Medicaid provisions take precedence. For Medicare members, applicable National Coverage Determinations (NCDs) and Local Coverage Determinations (LCDs) should be reviewed prior to applying these criteria. Coverage determinations remain subject to the plan's administrative policies and the terms and limitations of the member's coverage documents.
Providers should follow the applicable state and federal requirements and Health Plan administrative procedures when seeking prior authorization or coverage determination for genetic testing.
Use of comprehensive cardiomyopathy, comprehensive arrhythmia, combined cardiomyopathy/arrhythmia, or hypertrophic cardiomyopathy (HCM) multigene panels is considered not medically necessary for indications other than those explicitly listed in the policy. Each panel type has specific clinical inclusion criteria (e.g., documented cardiomyopathy or qualifying family history for cardiomyopathy panels; qualifying family history or unexplained sudden cardiac arrest for arrhythmia panels) and panels ordered outside those criteria may be denied.
When both cardiomyopathy and arrhythmia features are present, combined panels are medically necessary only if the member meets the full set of clinical criteria for both panel types.
Current evidence does not support genetic testing for restrictive cardiomyopathy (RCM) via multigene panel for any indications; no covered indications are specified in this policy. Requests for multigene panel testing for RCM are therefore not supported.
Genetic testing for Brugada syndrome is limited to SCN5A variant analysis when the strict phenotype and ECG criteria are met. The policy states that genetic testing for Brugada via genes other than SCN5A, including multigene panel analysis, is not supported because the gene‑disease validity for most other implicated genes is disputed and reporting them in the diagnostic setting is discouraged.
Providers should ensure Brugada phenocopies are excluded and that ECG/clinical criteria are satisfied before ordering SCN5A testing; broad panels that include genes with disputed ClinGen validity are discouraged for diagnostic reporting.
Multigene panel analysis to establish or confirm Hereditary Hemorrhagic Telangiectasia (HHT) is supported only when the member meets the listed clinical features and the panel includes at minimum ACVRL1 and ENG. The policy explicitly states that multigene panel testing for HHT is not supported for indications outside the listed clinical features.
Similarly, unfocused broad genetic testing without a defined phenotype (for example in sudden cardiac death cases) is not recommended for routine clinical care and is not supported by the policy outside research contexts.
The policy discourages reporting or broad diagnostic use of genes with disputed ClinGen gene‑disease validity in routine diagnostic panels. For Brugada syndrome, SCN5A is noted as the gene with the strongest diagnostic validity; reporting of other genes with disputed ClinGen status is discouraged and may be considered not medically necessary for routine diagnostic testing.
Tests may therefore be limited or modified when gene‑disease validity is disputed; ordering broad panels that include such genes without a clear phenotype can lead to coverage denial or non‑coverage.
Certain panel testing notes were removed and relabeled investigational where current evidence does not support clinical use. Examples include retired criteria for left ventricular non‑compaction and restrictions applied to panels where evidence is limited.
The policy revisions reorganized and clarified many panel‑specific rules; when evidence is insufficient for routine clinical application, the policy marks those panel indications as not supported or investigational.
Billing and Code References
| 81439 | Comprehensive cardiomyopathy panels (example billing code listed) |
| I42.0 | Dilated cardiomyopathy (example ICD-10 listed) |
| I42.1 | Obstructive hypertrophic cardiomyopathy (example ICD-10 listed) |
| I42.2 | Other hypertrophic cardiomyopathy (example ICD-10 listed) |
| I42.5 | Other restrictive cardiomyopathy (example ICD-10 listed) |
| I42.8 | Other cardiomyopathies (example ICD-10 listed) |
| I42.9 | Cardiomyopathy, unspecified (example ICD-10 listed) |
| Z13.71 | Encounter for screening for genetic disease (example ICD-10 listed) |
| Z82.41 | Family history of sudden cardiac death (example ICD-10 listed) |
| Z82.49 | Family history of other diseases of the circulatory system (example ICD-10 listed) |
| 81413 | Comprehensive arrhythmia panel sequencing (example CPT listed) |
| 81414 | Comprehensive arrhythmia panel with more genes (example CPT listed) |
| 0237U | Proprietary molecular test code listed for arrhythmia panels |
| I45.81 | Long QT syndrome (example ICD-10 listed) |
| I49.8 | Other cardiac arrhythmias (example ICD-10 listed) |
| 81403 | Targeted sequence analysis (examples for LQTS, SQTS, CPVT) |
| 81406 | Sequence analysis of multiple genes (example) |
| 81407 | Sequence analysis of multiple genes, larger panel (example) |
| 81479 | Unlisted molecular pathology procedure (example) |
| 81404 | Sequence analysis for specific gene (example: SCN5A) |
| 81401 | Targeted familial variant/exon analysis (example for FH panels) |
| 81405 | Targeted deletion/duplication analysis or multigene sequencing (used across several panels) |
| 81408 | Panel sequencing (example used for congenital heart malformation/TAAD) |
| 81410 | Panel with higher complexity (example for TAAD) |
| 81411 | Panel with additional testing (example for TAAD) |
| E78 | Disorders of lipoprotein metabolism and other lipidemias (ICD-10 group example for FH) |
| E78.01 | Familial hypercholesterolemia (example ICD-10 listed) |
| Q20 | Congenital malformations of cardiac chambers and connections (example ICD-10 listed) |
| Q21 | Congenital malformations of cardiac septa (example ICD-10 listed) |
| Q22 | Congenital malformations of pulmonary and tricuspid valves (example ICD-10 listed) |
| R04.0 | Epistaxis (example ICD-10 listed for HHT panels) |
| Q27.30-Q27.39 | Other congenital malformations of peripheral vascular system (example ICD-10 range listed) |
| 81479 | Unlisted molecular pathology procedure (appears in HHT panel group as well) |
| SCN5A | Gene referenced for Brugada syndrome (gene-level; not a billing code) |
| 0493U | Prospera (Natera) — donor-derived cell-free DNA (listed in policy reference table) |
Ordering, Documentation, and Prior Authorization
Use listed CPT/HCPCS codes for authorization and billing
Reference the policy's listed molecular/CPT codes when requesting coverage or prior authorization for cardiovascular multigene panels; example CPT and ICD codes include 81439, 81413, 81414, 81403, 81406, 81407, 81401, 81405, 81404, 81408, 81410, 81411, 0237U, 0493U and associated ICD-10 examples (e.g., I42.x, I45.81, E78.01, Z13.71, Z82.41). Use the appropriate panel code when a panel is performed.
- Examples of comprehensive cardiomyopathy panel billing codes include 81439 and related ICD-10 codes (I42.0, I42.1, I42.2, I42.5, I42.8, I42.9).
- Arrhythmia panels examples include 81413, 81414, 0237U and relevant ICD-10 codes (I45.81, I49.8).
- FH and other panels list CPTs such as 81401, 81405, 81408, 81410, 81411 and ICD group examples (E78 / E78.01).
- Reference-table additions include Prospera (0493U) for donor-derived cell-free DNA in transplant contexts.
Prior authorization required for multigene panels unless criteria documented
Obtain prior authorization when ordering multigene panels unless the patient's medical record already documents that the specific medical necessity criteria for the relevant panel are met (e.g., criteria for HCM, DCM, ACM, LQTS, Brugada, FH).
- Prior authorization applies to comprehensive cardiomyopathy and arrhythmia panels and to condition-specific panels unless chart documentation satisfies the panel-specific criteria.
- If a panel is performed, ensure the appropriate panel code is used on the authorization request.
HHT panel: require clinical features and ACVRL1/ENG on panel
Order HHT multigene panel testing only when the member has clinical features of HHT and the panel includes at minimum ACVRL1 and ENG; document the qualifying clinical features.
- Clinical features qualifying for HHT testing include spontaneous recurrent epistaxis, mucocutaneous telangiectases at characteristic sites, or visceral AVMs (pulmonary, cerebral, spinal, gastrointestinal, pancreatic).
- Panel must include at least ACVRL1 and ENG to meet medical necessity.
Include required clinical findings and family history with prior authorization
Supply panel-specific clinical documentation with prior authorization requests — ordering clinicians must demonstrate the diagnostic findings and family history specified for the requested panel (e.g., LV wall thickness ≥15 mm or pediatric z-score ≥2 for HCM; EF <50% for DCM; QTc thresholds or Schwartz score for LQTS).
- HCM: document myocardial wall thickness ≥15 mm in adults or z-score ≥2 in children on echo or cardiac MRI.
- DCM: document LV enlargement/biventricular dilatation plus systolic dysfunction (EF <50%) and exclusion of non-genetic causes.
- LQTS/SQTS: document QTc thresholds or Schwartz/SQTS diagnostic scores as applicable.
Prior authorization for transplant-related tests (e.g., Prospera 0493U)
Obtain prior authorization for transplant-related molecular tests per policy reference table — donor-derived cell-free DNA (e.g., Prospera 0493U) and post-transplant gene expression panels have specific coverage notes and may require prior authorization.
- Prospera (0493U) is listed in the policy reference table for donor-derived cell-free DNA.
- Post–heart-transplant gene expression panels (blood or tissue) have distinct coverage notes and default monitoring frequency guidance.
Prior authorization decisions follow Health Plan and regulatory policies
Recognize that final prior authorization and coverage decisions are governed by the Health Plan's administrative policies and may require review of applicable Medicare NCDs/LCDs; follow plan-level procedures when submitting authorization requests.
- This clinical policy guides medical necessity determinations but does not guarantee payment; coverage is subject to plan terms and state/federal requirements.
- Medicare members may require review of applicable NCDs/LCDs prior to coverage determination.
Route known familial variant testing per the general genetic testing policy
When a known familial variant is suspected, follow the consolidated General Criteria for Known Familial Variant Analysis in the organization's general genetic testing policy rather than requesting familial variant testing under this cardiac panels policy.
- Known familial variant analysis criteria were moved to the General Approach to Genetic and Molecular Testing policy; requests not following that consolidated policy may be denied.
Prefer multigene panels over serial single-gene testing; follow combined-panel rules
Prefer multigene panels over serial single-gene testing for genetically heterogeneous cardiomyopathies and, when both individual panel and combined panel criteria apply, ensure the member meets criteria for the combined test per policy.
- Guidelines recommend testing the most clearly affected family member first and cascade testing of pathogenic/likely pathogenic variants.
- If member meets criteria for both cardiomyopathy and arrhythmia panels, the combined comprehensive panel is medically necessary only when both criteria sets are met.
Preferred initial approach: phenotype-focused multigene panels (FH, HTAD/TAAD)
Use a multigene panel as the preferred initial testing approach for certain conditions (e.g., FH panels should include LDLR, APOB, PCSK9; HTAD/TAAD evaluation should use a multigene HTAD panel) rather than incremental single-gene testing.
- FH panels should at minimum include LDLR, APOB, and PCSK9 and include LDLR deletion/duplication analysis.
- TAAD/HTAD evaluation: a multigene panel that includes known HTAD genes is recommended as first-line testing.
Document provision of genetic counseling and expert consultation
Ensure pre-test and post-test genetic counseling and involvement of or consultation with a cardiac genetics expert for testing decisions and interpretation; document counseling and rationale in the medical record.
- Genetic counseling is strongly advised to facilitate informed decision-making and address incidental findings.
- Testing decisions and interpretation should be performed by or in consultation with a cardiac genetics expert.
Document required diagnostic findings and thresholds to support testing
Document the specific required clinical findings in the medical record to support medical necessity for the requested panel (examples: LV wall thickness ≥15 mm or pediatric z-score ≥2 for HCM; EF <50% for DCM; specific ECG/Schwartz or QTc thresholds for LQTS/SQTS; LDL-C thresholds for FH).
- HCM: myocardial wall thickness ≥15 mm in adults or z-score ≥2 in children (echo or cardiac MRI).
- DCM: LV enlargement/biventricular dilatation plus systolic dysfunction (EF <50%) and exclusion of secondary causes.
- LQTS: QTc >460 ms (prepuberty) or >480 ms (adults) or Schwartz score ≥3.0 for symptomatic patients.
- SQTS: QTc ≤330 ms or SQTS diagnostic score ≥4 when applicable.
- FH: at least two elevated LDL-C measurements and specified LDL-C thresholds per age and family history.
Document multidisciplinary review and sample collection for SCA/SUD cases
For SCA/SUD evaluations, document multidisciplinary team involvement, detailed phenotype, and that samples suitable for future DNA testing were collected and stored; when phenotype is known, document the targeted candidate genes considered.
- A comprehensive autopsy and storage of tissue suitable for genetic analysis should be documented when relevant.
- Genetic investigation should focus on likely candidate genes consistent with the suspected phenotype and be performed in a multidisciplinary center when possible.
Provide comprehensive clinical documentation and prior test results with orders
Include clinical diagnostic criteria, diagnostic scores, ECG findings, family history, and records of prior non-diagnostic evaluations (e.g., exclusion of reversible, ischemic, or structural causes) when submitting testing requests to support medical necessity.
- Provide ECG recordings free of modifiers that shorten QT when applicable and document measurement method for intervals.
- Document prior cardiac testing (ECG, stress tests, echocardiogram, imaging) and exclusion of reversible causes when ordering arrhythmia panels.
Document transplant status; default routine monitoring coverage = once per 12 months
For routine post‑transplant molecular monitoring, adhere to policy guidance that absent specific guideline regimens the default covered frequency is once every 12 months; document transplant status and indication for surveillance testing.
- Post-heart-transplant gene expression panels for rejection risk (blood or tissue) have specific criteria; document transplant history when requesting surveillance testing.
- Default coverage frequency for routine monitoring is once every 12 months unless guideline-based regimens specify otherwise.
Denial risk: failure to meet panel-specific medical necessity criteria
Be aware that testing may be denied if the member does not meet the specific medical necessity criteria listed for comprehensive cardiomyopathy, arrhythmia, combined, or other condition‑specific panels; do not order comprehensive or combined panels outside the enumerated indications.
- Comprehensive cardiomyopathy/arrhythmia/combined panels are medically necessary only when the policy's explicit criteria are met; otherwise testing may be denied.
- Review the panel-specific criteria before ordering to avoid noncoverage.
Denial risk: combined comprehensive panels limited to dual-criteria cases
Order comprehensive combined cardiomyopathy+arrhythmia panels only when the member meets both the Comprehensive Cardiomyopathy Panels and Comprehensive Arrhythmia Panels clinical criteria; otherwise the combined panel is not supported.
- Combined panels that include genes for both conditions are medically necessary only when both sets of criteria are satisfied.
Denial risk: unfocused/hypothesis-free genetic testing discouraged for SCD/SCA without phenotype
Do not order large unfocused gene panels, WES, or WGS for sudden cardiac death cases without a definable clinical phenotype — hypothesis-free testing in that setting is discouraged and may not be supported for routine care.
- Hypothesis-free genetic testing should be considered only in research contexts; routine patient care requires phenotype-focused testing.
Denial risk: gene selection limited when gene‑disease validity is disputed
Expect tests to be limited or modified when gene-disease validity is disputed (for example, reporting genes other than SCN5A for Brugada is discouraged); ordering inappropriate gene sets may result in denial or noncoverage.
- For Brugada syndrome, SCN5A is identified as the gene with strongest diagnostic validity; other genes with disputed ClinGen status are discouraged for diagnostic reporting.
- Testing panels that include genes with disputed validity may be limited or considered not medically necessary.
Denial risk: known familial variant testing must follow consolidated general policy
Follow the general policy for known familial variant analysis — requests that do not follow the consolidated general criteria for familial variant testing may be denied.
- Known familial variant testing criteria were moved to the General Approach to Genetic and Molecular Testing; use that policy's process for familial variant analysis.
Coverage decision dependencies: follow plan documents and regulatory requirements
Recognize coverage decisions depend on plan terms, exclusions, state/federal requirements, and Health Plan administrative policies; review applicable coverage documents when planning testing and prior authorization.
- This policy guides medical necessity determinations but coverage and payment remain subject to plan documents and legal/regulatory requirements.
- When state Medicaid provisions conflict with this policy, state Medicaid rules take precedence.
Scope and Policy Rationale
This policy governs genetic testing for inherited and sporadic cardiovascular conditions, including structural cardiomyopathies, channelopathies/arrhythmia syndromes, thoracic aortic disease, familial hypercholesterolemia, and related vascular and lipid disorders. It is intended to guide medical necessity determinations and coverage decisions for multigene panels and targeted genetic testing.
Because genetic testing for cardiomyopathies and arrhythmias is complex and prone to misinterpretation, the policy emphasizes that testing decisions and interpretation should involve a cardiac genetics expert and that pre‑test and post‑test genetic counseling is strongly advised. The policy prefers phenotype‑targeted multigene panels recommended by professional guidelines over unfocused testing.
Key Definitions and Diagnostic Thresholds
Policy Updates and Material Changes
Added post–heart transplant gene expression panels and reference-table updates; moved known familial variant analysis for cardiac disorders to the General Genetic Testing policy; retired LV non-compaction panel criteria; FH criteria modified to remove requirement for definitive genetic diagnosis before medication eligibility (Revision Date = 04/24).
Operational and content revisions including replacement/updates of society references (added EHRA/HRS/AP), renamed Arrhythmogenic Right Ventricular Panel to Arrhythmogenic Cardiomyopathy Panels with updated major/minor criteria, and multiple cardiomyopathy criteria reworded (Revision Date = 03/23).
Annual review with policy title updated to 'Concert Genetic Testing: Cardiovascular'; removed certain HCM/DCM familial testing points, retired LV non-compaction criteria, clarified LQTS/SQTS footnote referencing general known familial variant criteria, and updated coding/references (Revision Date = 11/25).
Material changes in this revision include highlighting specific genes and operational clarifications: the policy endorses a SQTS diagnostic QTc cutoff of ≤330 ms and clarifies Brugada ECG/phenotype definitions (including a J‑wave elevation threshold of ≥2 mm) and the requirement to exclude Brugada phenocopies before diagnosis. The revisions also refined Brugada testing to emphasize SCN5A as the principal diagnostic gene and discouraged reporting of genes with disputed validity.
Operational revisions also include wording and age threshold updates across several arrhythmia criteria (for example, changing younger age thresholds to 'before age 50 years'), CPT code table updates, and other clarifications to diagnostic non‑diagnostic language.
The policy reference table was updated to add certain procedures, including the donor‑derived cell‑free DNA test Prospera (0493U), which appears in the policy reference table for transplant‑related testing and monitoring.
Providers should reference the updated policy coding tables and the added reference entries when seeking prior authorization or billing for related tests.
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