RetiredUnitedHealthcarePolicy CS048LA.Q

Genetic Testing for Cardiac Disease (for Louisiana Only)

State-specific UnitedHealthcare medical policy for genetic testing and genetic counseling for inherited cardiac arrhythmias, cardiomyopathies, thoracic aortic disease, and coronary artery disease risk tests, applicable to Louisiana only and addressing multi-gene panels (≥5 genes) and select other tests; includes definitions, clinical indications considered medically necessary, and codes for reference. Document is retired effective April 1, 2026 and covers the period Jan 1, 2026–Mar 31, 2026.

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing for Cardiac Disease (for Louisiana Only)

Policy CodePolicy CS048LA.Q

Change TypeRetired / Revised coverage language

Effective DateJan 1, 2026

Next Review Date

Key ActionDocument genetic counseling before and after all genetic testing and maintain medical records that fully support medical necessity.

SourceLink

POLICY UPDATE CHANGES

Retired policy; Louisiana plan membership disenrolled on Apr. 1, 2026.

Replaced language clarifying that genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease (not listed as medically necessary) is unproven and not medically necessary due to insufficient evidence; exception noted for chromosome microarray analysis for isolated severe congenital heart disease.

Policy is state-specific to Louisiana and reflects LA MCO genetic counseling/testing requirements.

Added language specifying medical records documentation expectations for assessing medical necessity.

Updated Description of Services, Clinical Evidence, FDA, and References sections to reflect current information; archived previous policy version CS048LA.P.

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.

Coverage Summary

This is the Louisiana-specific UnitedHealthcare medical policy (Policy ID CS048LA.Q) covering genetic testing and counseling for inherited cardiac arrhythmias, cardiomyopathies, thoracic aortic disease, and coronary artery disease risk tests. The policy applies to Louisiana only, addresses multi-gene panels (≥5 genes) and selected cardiac genetic tests, and was effective January 1, 2026 – March 31, 2026. The document is noted as Retired effective April 1, 2026 with Louisiana plan membership disenrolled on that date. Coverage stance is mixed: multi-gene panel testing is considered medically necessary for specified inherited arrhythmias, cardiomyopathies, and thoracic aortic disease and for asymptomatic first- or second-degree relatives meeting criteria, while genetic testing for coronary artery disease (CAD) and other cardiac genetic tests not specified as medically necessary are considered unproven / not medically necessary due to insufficient evidence.

Operational thresholds / quick reference

Effective Date2026-01-01

Retired Date2026-04-01

Scope / StateLouisiana only (LA MCO policy)

Policy statusRETIRED

Minimum panel size addressedPanels or microarray profiles with ≥5 genes

LQTS QTc threshold used by policy> 460 ms (exercise/Holter/pharmacologic provocation)

Schwartz Score threshold used by policy>= 1.5 points (policy inclusion criterion)

Family sudden death age threshold<= 45 years (first- or second-degree relative)

Young familial AF age threshold< 60 years (consider testing in familial/young AF)

Medical‑Necessity Criteria (by indication)

Genetic Counseling

Genetic counseling before and after all genetic testing is required. Counseling must consist of at least all of the following and be documented in the medical record:

ALL of the following

Obtaining a structured family genetic history.
Genetic risk assessment.
Counseling of the enrollee and family about diagnosis, prognosis, and treatment.

Inherited Arrhythmias — Multi‑Gene Panel (Medically necessary)

Multi‑Gene Panel testing for the diagnosis of a hereditary arrhythmia syndrome is proven and medically necessary when ANY of the following confirmed or suspected diagnoses are present (preserve nested logic and thresholds):

ANY of the following

Guideline Recommendations & Clinical Evidence Context

CPVT testing recommendations

Guideline/expert consensus recommendations for CPVT testing summarized:

ALL of the following

Definite/strong evidence genes: Genetic testing is recommended for index cases with phenotype-positive CPVT for established CPVT-susceptibility genes: RYR2, CASQ2, CALM1-3, TRDN, and TECRL
Consider in select cases: In phenotype-positive CPVT patients negative for established genes, consider testing for CPVT phenocopies (KCNJ2, SCN5A, PKP2); in modest phenotype (diagnostic score >=2 but <3.5) genetic testing of established genes may be considered
Variant-specific genetic testing is recommended for family members after identification of a disease-causative variant

Coding (reference & fee-schedule notes)

Potentially relevant and listed procedure codes (reference only)CPT|HCPCS|mixed

0237U	Cardiac ion channelopathies genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A; includes small sequence changes, deletions, duplications, mobile element insertions, variants in non-uniquely mappable regions.
0401U	Cardiology (coronary heart disease), 9 genes (12 variants), targeted variant genotyping, algorithm reported as a genetic risk score for a coronary event.
0439U	Cardiology (CHD), DNA, analysis of 5 SNPs and 3 DNA methylation markers, algorithm reported as a 4-tiered risk score for 3-year risk of symptomatic CHD.
0440U	Cardiology (CHD), DNA, analysis of 10 SNPs and 6 DNA methylation markers, algorithm reported as detected/not detected for CHD.
0466U	Cardiology (CAD), DNA, genome-wide association studies (564,856 SNPs), patient lifestyle and clinical data, algorithm reported as polygenic risk.
81410	Aortic dysfunction or dilation; genomic sequence analysis panel, must include sequencing of at least 9 genes (FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, MYLK).
81411	Aortic dysfunction or dilation; duplication/deletion analysis panel, must include TGFBR1, TGFBR2, MYH11, COL3A1.
81413	Cardiac ion channelopathies; genomic sequence analysis panel, must include sequencing of at least 10 genes including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A.
81414	Cardiac ion channelopathies; duplication/deletion gene analysis panel, must include analysis of at least 2 genes including KCNH2 and KCNQ1.
81439	Hereditary cardiomyopathy; genomic sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-related genes (e.g., DSG2, MYBPC3, MYH7, PKP2, TTN).

1–10 of 12

1/2

Codes not on Louisiana Medicaid Fee Schedule (may not be covered)CPT|HCPCS

0237U	See above; marked with asterisk in policy indicating not on State of Louisiana Medicaid Fee Schedule.
0401U	See above; marked with asterisk.
0439U	See above; marked with asterisk.
0440U	See above; marked with asterisk.
0466U	See above; marked with asterisk.
81493	See above; listed with asterisk.

Codes listed in the policy are provided for reference only; inclusion does not imply coverage or reimbursement. Several codes are specifically annotated as not on the State of Louisiana Medicaid Fee Schedule (marked with an asterisk) and therefore may not be covered. Providers should verify billing, coverage, and fee-schedule status against current Louisiana Medicaid and payer-specific formularies and fee schedules before submitting claims.

Provider Actions & Requirements

Documentation Required

Document genetic counseling

Genetic counseling must be documented in the medical record prior to testing and after result disclosure. Documentation must include all of the following elements: structured, multigenerational family history (at minimum first- and second-degree relatives); an individualized genetic risk assessment based on personal and family history; discussion of the indications, possible results (including VUS), limitations, and implications of testing; and counseling about diagnosis, prognosis, treatment options, and cascade testing recommendations for at-risk relatives. Records of counseling must be retained in the patient’s medical record and made available upon request.

Obtain and document a structured multigenerational family history (first- and second‑degree relatives at minimum).
Perform and document disease‑appropriate phenotyping and genetic risk assessment.
Provide pre‑test and post‑test counseling covering indications, possible results (including variant of uncertain significance and reclassification), limitations, and clinical implications.
Document counseling recommendations regarding cascade (variant‑specific) and predictive testing for relatives.

Documentation Required

Medical records to support necessity

Definitions

Term	Definition
First-Degree Relative
Parents, siblings, and offspring (NCCN, 2025).
Second-Degree Relative
Half-brothers/sisters, aunts/uncles, grandparents, grandchildren, and nieces/nephews affected on the same side of the family (NCCN, 2025).
Multi-Gene Panel
Genetic tests using next-generation sequencing to test multiple genes simultaneously; also called multiple gene panel (National Cancer Institute Dictionary, 2025).
Schwartz Score
Set of diagnostic criteria for long QT syndrome (LQTS) with point-based scoring and probability thresholds (low ≤1.0; intermediate 1.5–3.0; high ≥3.5) based on ECG, clinical history, and family history.
Index case (proband)
The first affected individual in a family who brings a genetic disorder to attention and is the first to undergo diagnostic genetic testing.
P/LP
Pathogenic or likely pathogenic variant.
VUS
Variant of Uncertain Significance.
PRS
Polygenic risk score — aggregated genetic risk across many variants; aggregate score derived from multiple SNPs by summing weighted risk alleles to estimate genetic predisposition to coronary heart disease.
HTAD/TAAD
Heritable thoracic aortic disease / thoracic aortic aneurysm and dissection.
CLIA
Clinical Laboratory Improvement Amendments — regulatory framework for laboratories performing genetic tests.

Evidence Highlights

Evidence themes (summary): published studies and meta-analyses show variable detection rates and yields across conditions, with substantial variation in penetrance among relatives; arrhythmia and cardiomyopathy panels report mixed rates of VUS and pathogenic findings, and sarcomeric variant yields and penetrance for HCM vary by gene and study design. CPVT yields center on RYR2 and related genes; DCM shows notable contribution from TTN truncating variants; TAAD panels include a subset of definitive genes but many families remain test-negative. Polygenic risk scores (PRS) for CAD have shown associations with events but limited clinical actionability, variable discrimination gains, and ancestry-dependent performance. Overall, uncertainties remain about clinical actionability, generalizability across ancestries, and long-term outcomes; consult the policy's Clinical Evidence section for full citations and detailed metrics.

Additional evidence metrics

CPVT clinical sensitivity (3‑gene card)Estimated 50–75% clinical sensitivity

RYR2 penetrance in CPVTRYR2 variants common; RYR2 penetrance reported ~83% in some series

Pooled phenotypic conversion (HCM carriers)~15% develop clinical HCM over ~8 years

PRE-DETERMINE GPSCAD absolute SD risk (top decile)

Revision History

2026-04-01retirementLatest

Retired policy; Louisiana plan membership disenrolled on Apr. 1, 2026.

2026-01-01summary_of_changes

Summary of Changes: updated Coverage Rationale and Non State-Specific Criteria language; replaced prior wording clarifying that genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease (not listed as medically necessary) is unproven and not medically necessary due to insufficient evidence; noted exception for chromosome microarray analysis for isolated severe congenital heart disease.

2026-01-01

Policy Summary

PayerUnitedHealthcare

PolicyGenetic Testing for Cardiac Disease (for Louisiana Only)

Policy CodePolicy CS048LA.Q

Change TypeRetired / Revised coverage language

Effective DateJan 1, 2026

Next Review Date

Key ActionDocument genetic counseling before and after all genetic testing and maintain medical records that fully support medical necessity.

SourceLink

On This Page

Brugada syndrome (BrS).
Catecholaminergic polymorphic ventricular tachycardia (CPVT).
Familial long QT syndrome (LQTS)
- Acquired causes of prolonged QT have been ruled out.
- AND one of the following
  - Prolonged QTc (> 460 ms) on exercise or ambulatory electrocardiogram (ECG), Holter monitoring, or during pharmacologic provocation testing.> 460 ms
  - T wave abnormalities on ECG suggestive of LQTS (e.g., Torsade de pointes, T wave alternans, or notched T wave in 3 leads).
  - Profound congenital bilateral sensorineural hearing loss and prolonged QTc.
  - Schwartz Score ≥ 1.5 points.>= 1.5
Short QT syndrome (SQTS).

Inherited Cardiomyopathies — Multi‑Gene Panel (Medically necessary)

Multi‑Gene Panel testing for the diagnosis of a hereditary cardiomyopathy is proven and medically necessary when ANY of the following confirmed or suspected diagnoses are present (including specified nested requirements):

ANY of the following

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
Dilated cardiomyopathy (DCM) — without an identifiable cause
- Dilated cardiomyopathy (DCM) without an identifiable cause (e.g., ischemia, valvular disease, hypertension, toxin exposure).
- AND one of the following
  - Individual has cardiac conduction disease (first-, second-, or third-degree atrioventricular block).
  - Sudden cardiac death in a First‑ or Second‑Degree Relative at age 45 years or younger.
Hypertrophic cardiomyopathy (HCM) without an identifiable cause (e.g., valvular disease, hypertension, infiltrative or neuromuscular disorder).
Left ventricular noncompaction cardiomyopathy (LVNC).

Inherited Thoracic Aortic Disease — Multi‑Gene Panel (Medically necessary)

Multi‑Gene Panel testing for inherited thoracic aortic disease is proven and medically necessary when ANY of the following are met:

ANY of the following

Individual has confirmed thoracic aortic disease (e.g., thoracic aortic aneurysm, dissection).
Thoracic aortic disease is suspected based on family history of thoracic aortic disease in a First‑ or Second‑Degree Relative.

Testing Based Only On Family History — Multi‑Gene Panel (Medically necessary)

Multi‑Gene Panel testing based only on family history is proven and medically necessary in asymptomatic individuals who have a First‑Degree or Second‑Degree Relative with ANY of the following conditions:

ANY of the following

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

Not Medically Necessary / Unproven

All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease is considered unproven and not medically necessary due to insufficient evidence of efficacy. Genetic testing for coronary artery disease (CAD) is also unproven and not medically necessary. Examples include but are not limited to:

ALL of the following

All other genetic testing for cardiomyopathies, arrhythmias, or aortic vascular disease not specified as medically necessary in this policy.
Genetic testing for coronary artery disease (CAD), including gene expression tests and genetic risk/profile panels.
Examples: gene expression tests; microarray or other genetic profiles for cardiac disease risk (e.g., Cardiac DNA Insight®, Cardiac Healthy Weight DNA Insight®, Cardio IQ® gene tests and panels).
This determination does not apply to chromosome microarray analysis when indicated for isolated severe congenital heart disease.

Medical records and documentation requirements (operational criteria)

Medical records and documentation must support the clinical indications and be available to assess medical necessity. The following documentation is required and should be legible and maintained in the patient’s medical record:

ALL of the following

Relevant medical history, including symptoms, prior cardiac testing, and rationale for genetic testing.
Detailed family history (structured pedigree) documenting First‑ and Second‑Degree relatives, ages at diagnosis or death, and diagnoses where applicable.
Physical examination findings relevant to the cardiac condition under evaluation.
Results of pertinent diagnostic tests or procedures (e.g., ECG with QTc values, Holter/ambulatory ECG, exercise stress testing, imaging such as echocardiogram or cardiac MRI).
Documentation that acquired causes of findings (e.g., medication effects, electrolyte abnormalities) have been assessed and ruled out when relevant (e.g., LQTS evaluation).
Clear indication of the relationship of the tested individual to affected relative when testing is based on family history (degree of relation, age at event).
Records must be legible and made available upon request to support medical necessity determinations.

Brugada Syndrome (BrS) testing recommendations

Guideline/expert consensus recommendations for Brugada syndrome testing summarized:

ALL of the following

Genetic testing with sequencing of SCN5A is recommended for an index case diagnosed with BrS with a type I ECG (spontaneous or induced with sodium-channel blockade) in presence of supporting clinical features or family history
Rare variants in genes with disputed or refuted gene-disease validity should not be reported routinely for BrS diagnostic testing
Targeted sequencing of VUS in SCN5A with population allele frequency < 1e-5 identified in an index case can be considered concurrently with phenotyping for family members to assess pathogenicity via co-segregation
Variant-specific genetic testing is recommended for family members after identification of the disease-causative variant
Predictive genetic testing of pathogenic SCN5A variants in related children is recommended from birth onward (any age)

Short QT Syndrome (SQTS) testing recommendations

Guideline/expert consensus recommendations for Short QT Syndrome testing summarized:

ALL of the following

In any patient satisfying diagnostic criteria for SQTS (e.g., Class 1 or SQTS diagnostic score > 4), molecular genetic testing is recommended for definitive disease-associated genes: KCNH2 and KCNQ1
Testing of KCNJ2 and SLC4A3 may be performed in index patients with high-probability diagnosis (SQTS diagnostic score >= 4) as determined by a cardiologist
Variant-specific genetic testing is recommended for family members after identification of disease-causative variant
Predictive genetic testing in related children may be considered in specific settings

Inherited Atrial Fibrillation (AF) testing recommendations

Guideline/expert consensus recommendations for inherited atrial fibrillation (familial AF) testing summarized:

ALL of the following

Analysis of SCN5A, KCNQ1, MYL4 and truncating TTN variants may be performed in index patients with familial (young, age < 60) AF when diagnosis established by clinical history, family history, and ECG characteristics
Variant-specific genetic testing may be recommended for family members after identification of a disease-causative variant
Predictive genetic testing in related children may be considered in specific settings

HCM testing and family screening

Guideline recommendations and evidence statements for HCM testing and family screening summarized:

ALL of the following

Obtain a three-generation family history as part of initial HCM assessment (COR 1/Strong)
Genetic testing of individuals with HCM is recommended to determine genetic basis and aid identification of at-risk family members (cascade testing) (COR 1/Strong)
When HCM presents atypically or another genetic condition is suspected, include genetic testing for HCM along with other causes of unexplained cardiac hypertrophy (COR 1/Strong)
Genetic counseling by qualified experts is recommended for all individuals with HCM (COR 1/Strong)
Initial gene testing in probands should include genes with strong evidence for HCM: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC1 (COR 1/Strong)
Offer both clinical screening and cascade testing to relatives when a P/LP variant has been identified in the proband (COR 1/Strong)
Recommendations/limitations: Utility of genetic testing for assessing SCD risk in HCM is uncertain (COR 2b/Weak); utility for variant reclassification in phenotype-negative relatives when proband only has VUS is uncertain (COR 2b/Weak); if proband has no P variants, cascade testing is not useful (COR 3/No benefit)

Arrhythmogenic Cardiomyopathy (ACM/ARVC) testing recommendations

Guideline and evidence statements for Arrhythmogenic Cardiomyopathy (ACM/ARVC) testing summarized:

ALL of the following

Identification of a LP/P variant is a major diagnostic criterion for ARVC/ACM and can be required for diagnosis of ALVC
Genetic testing is useful for confirmatory testing of index cases to facilitate interpretation of borderline investigations and cascade screening of families
Multiple desmosomal genes commonly associated with ARVC/D include DSC2, DSG2, DSP, JUP, PKP2, TMEM43; other implicated genes: CTNNA3, DES, LMNA, PLN, RYR2, TGFB3, TTN
Cascade screening and family member risk stratification is advised given variable penetrance and family risk differences

Familial Dilated Cardiomyopathy (DCM) testing and cascade screening

Guideline and evidence statements for Familial Dilated Cardiomyopathy (DCM) testing and cascade screening summarized:

ALL of the following

Genetic testing is recommended as Class I in probands with confirmed cardiomyopathy; initial tier should include genes with definitive/strong evidence: TTN, MYH7, LMNA, BAG3, DES, PLN, TNNT2, TNNC1, ACTC1, NEXN, TPM1, VCL, DSP (selected lists vary by guideline)
Genetic testing is recommended in at-risk family members and presymptomatic individuals with strong family history; predictive testing appropriate for asymptomatic at-risk individuals when familial P/LP identified
Genetic testing may be useful even in diagnosed patients with no family history, and gene-specific management (e.g., LMNA — consider ICD) may be indicated
Large cohort studies identify key DCM genes and relative prevalence (e.g., TTN truncating ~20%, MYH7, LMNA, BAG3)

LVNC/NCCM testing recommendations

Evidence- and guideline-based points for Left Ventricular Noncompaction (LVNC/NCCM) testing summarized:

ALL of the following

Genetic testing may identify sarcomere gene mutations in LVNC; common causal genes include MYH7 and MYBPC3 (up to ~30%)
Genotype-phenotype correlations influence prognosis: genetic NCCM associated with higher risk of LV systolic dysfunction and MACE; MYH7/ACTC1 associated with lower MACE risk than MYBPC3/TTN
Pediatric considerations: children have higher mutation frequency and higher MACE risk; testing and management should be age-tailored
Genetic diagnosis may help predict outcomes and guide management for individuals and families

Clinical evidence and guideline context for CAD/polygenic risk

Summary points on clinical evidence and guideline context for coronary artery disease (CAD) polygenic risk and related testing:

ALL of the following

Polygenic genomic risk scores (up to ~50 SNPs in cited studies) have been shown in cohort studies to be predictive of CHD events and can identify individuals with substantially increased risk compared with average population risk
A favorable lifestyle reduces CHD risk across genomic risk groups (approx. 45-47% lower risk)
European Sixth Joint Task Force concluded no consensus on markers, calculation, or use of genomic risk scores and does not recommend their routine use
ACC/ AHA statements note PRS and gene expression profiling are not currently established as clinically actionable for routine management; clinical actionability remains uncertain
FDA/CLIA informational note: laboratories performing genetic tests are regulated under CLIA; FDA-cleared/approved nucleic acid-based tests referenced for informational purposes

Selected evidence metrics (contextual)

Arrhythmia panel variant detection (Van Lint et al.)Overall arrhythmia panel variants detected in 44% subjects; LP 4.2%, P 4.6%, VUS 34.8%

Pooled penetrance in non-proband relatives (Topriceanu et al.)57% (95% CI 52–63%)

Pooled phenotypic conversion (Topriceanu et al.)15% over ~8 years follow-up

Median genetic DCM prevalence (Myers et al.)20.2% overall; TTN 11.4%; MYH7 3.2%

HCM detection / family yieldsSarcomere variant prevalence in HCM cohorts ~34%; pediatric detection higher (~56%)

Diagnostic yield in multcenter HCM testing (Blueprint/Hathaway)26.8% P/LP diagnostic yield (369/1,376)

PRE-DETERMINE GPSCAD top decile (Boccanelli & Scardovi)Absolute sudden death risk 8.0% vs 4.8%; relative SD risk 29% vs 16%

Prior Authorization

Index case genetic testing

Index case (proband) diagnostic testing may affect prior authorization and coverage for subsequent family testing. Verify whether prior authorization is required for index testing and whether coverage for cascade or targeted testing depends on identified pathogenic/likely pathogenic variant in the proband.

Obtain testing on the index case when indicated to establish a variant for cascade (variant‑specific) testing of relatives.
Prior authorization may be required for multigene panel or other genetic tests — check payer/provider portal before ordering.
If no pathogenic/likely pathogenic variant is identified in the index case, coverage for targeted family member testing may be limited; document clinical rationale for alternative approaches.

Prior Authorization

Coverage determined by federal/state/contract

Coverage and benefit determination are governed by federal, state, and contractual requirements and applicable laws. For Louisiana members, this policy was retired effective 2026‑04‑01; verify current LA coverage rules and any state‑mandated requirements prior to ordering.

Benefit coverage is determined by federal, state, and contractual requirements and may vary by plan.
State mandates (e.g., LA MCO rules) may require genetic counseling and specific documentation.
Because this policy is retired for Louisiana as of 2026‑04‑01, providers must confirm the current Louisiana coverage rules, MCO guidance, and contract terms before ordering genetic testing.

Documentation Required

Cascade, predictive, targeted sequencing, variant reclassification, and family management

Cascade and predictive testing of at‑risk relatives should be guided by the presence of a known pathogenic/likely pathogenic variant in the proband. Documentation should specify whether testing is variant‑specific (targeted) or broader panel testing, and the clinical rationale for the selected approach.

When a pathogenic/likely pathogenic variant is identified in the proband, offer variant‑specific cascade testing to at‑risk first‑ and second‑degree relatives.
Targeted (variant‑specific) sequencing for relatives is a distinct billing scenario and may have different coding and coverage rules than multigene or reflex testing — follow payer billing guidance.
Predictive testing in asymptomatic minors is generally limited to conditions where childhood onset or surveillance would alter management; document justification for pediatric predictive testing per professional guidelines.
Re‑evaluation and follow‑up are recommended for variant reclassification; document counseling and any recommended clinical screening for relatives after reclassification.

Billing Rule

Targeted sequencing and billing rules

Targeted sequencing and other technical/billing choices have specific coding and reimbursement implications. Select the appropriate test type (targeted variant testing vs multigene panel) based on the clinical question and document the rationale to support billing.

Use targeted variant/genotype testing codes when testing for a known familial variant in a family member.
Use multigene panel codes for diagnostic testing in an index case or when phenotype supports broader testing.
Document test strategy and clinical justification to support appropriate code selection and payment.
Ensure that laboratory reports and requisitions clearly state whether testing is variant‑specific or a full gene/panel analysis, as this affects billing classification.