Hypertrophic Cardiomyopathy (HCM) Panel
NGS panel analyzing 60 genes for hypertrophic cardiomyopathy, including key sarcomeric and syndromic genes (e.g., MYH7, MYBPC3, TNNT2, TNNI3).
Accessed through the Roadmap2Rare Sponsored Testing Program•Sponsored by Sanofi•Performed by Revvity Omics, Inc.
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
When to consider this test
Patient selection
- Clinical diagnosis of cardiomyopathy or cardiac arrhythmia of unknown etiology in the patient; and/or
- Documented family history of HCM with no known causal variant.
- Not intended for carrier screening; use targeted familial or carrier workflows as appropriate.
Workflow
How to use this program
- 1
Select & order
Assess clinical fit (e.g., suspected Pompe/NBS flag) and submit the Roadmap2Rare requisition.
- 2
Collect & ship
Collect per kit instructions (e.g., DBS for enzyme; panel as directed) and ship to Revvity.
- 3
Review results
Review the report, counsel the family, and, if enzyme-deficient, note reflex sequencing status.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Revvity Omics, Inc., a CLIA-certified laboratory (CLIA 39D0673919). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
When should I order the HCM panel?
In patients with a clinical diagnosis of cardiomyopathy or unexplained arrhythmia of unknown etiology, and/or with a confirmed family history of HCM lacking a known causal variant.
What genes are covered?
A 60-gene panel spanning core sarcomeric genes (e.g., MYH7, MYBPC3, TNNT2, TNNI3, MYL2/MYL3, ACTC1, TPM1, TNNC1) plus select syndromic/metabolic genes (e.g., PRKAG2, LAMP2, GLA, FLNC, PLN, MYH6).
How should results inform care?
Integrate positive findings with phenotype for risk stratification, cascade testing, and management (e.g., surveillance, lifestyle guidance, device candidacy).
How are VUS handled?
Reported per lab policy; counsel patients on uncertainty and reclassification potential. Consider segregation, phenotypic refinement, and periodic re-review.
Is this appropriate for carrier screening?
No—this program is not intended for carrier screening. For known familial variants, pursue targeted testing pathways.
How should family members be managed?
Use positive findings to guide cascade testing and longitudinal cardiac surveillance per guidelines; if negative/VUS, base screening on clinical risk.
See an issue with this program?