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 offers complimentary genetic testing for hypertrophic cardiomyopathy, sponsored by Sanofi and performed by Revvity Omics, Inc. The program is designed to address unmet diagnostic testing needs at no charge to the patient or clinician. Test selection and all treatment decisions remain entirely at the ordering clinician's discretion, and patient and clinician identifying information is not shared with Sanofi.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- For diagnostic testing only — not appropriate for carrier testing
- Ordered by a licensed medical professional authorized to order genetic testing, who confirms informed consent and medical necessity
- Meets the program eligibility for at least one test option:
- Hypertrophic Cardiomyopathy (HCM) Panel — one or more of the following:
- Cardiomyopathy of unknown etiology
- Cardiac arrhythmia of unknown etiology
- Confirmed family history of Hypertrophic Cardiomyopathy (HCM) of unknown etiology
- Fabry disease enzyme assay / sequencing — clinical suspicion of Fabry disease
- GLA known familial variant testing — family history of Fabry disease, familial variant known
- Pompe enzyme assay with reflex to GAA sequencing — clinical suspicion of Pompe disease
- STAT expedited Pompe testing — suspected infantile-onset Pompe disease (IOPD) and newborn screening confirmation only
- Standalone acid alpha-glucosidase enzyme assay — confirmatory Pompe testing (if sequencing done elsewhere), or reflex from the HCM Panel
- GAA known familial variant testing — family history of Pompe disease, familial variant known
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
Which patients with hypertrophic cardiomyopathy are appropriate for Roadmap2Rare testing?
Roadmap2Rare provides sponsored diagnostic testing for patients with suspected or confirmed hypertrophic cardiomyopathy who meet the program's criteria. The ordering clinician determines which test is appropriate based on the individual patient's clinical presentation. Detailed eligibility information is available through the Roadmap2Rare program.
Who performs and sponsors the Roadmap2Rare HCM genetic testing?
Testing through the Roadmap2Rare program is performed by Revvity Omics, Inc. and fully sponsored by Sanofi, meaning there is no cost to the patient or ordering clinician. The program was established to help address unmet diagnostic testing needs for rare diseases including hypertrophic cardiomyopathy.
Does ordering Roadmap2Rare testing for HCM create any prescribing or purchase obligation?
No. The Roadmap2Rare program, sponsored by Sanofi, is not intended to interfere with independent clinical judgment or freedom of choice regarding testing and treatment. Ordering through Roadmap2Rare carries no obligation to prescribe any specific therapy. Test selection and all subsequent care decisions remain at the clinician's discretion.
Is patient identifying information shared with Sanofi when ordering through Roadmap2Rare?
No. Patient and clinician identifying information is not shared with Sanofi through the Roadmap2Rare program. The program is designed to support diagnostic evaluation while maintaining patient and clinician privacy. Testing is coordinated through Revvity Omics, Inc.
How do I order Roadmap2Rare genetic testing for a patient with hypertrophic cardiomyopathy?
Clinicians can access Roadmap2Rare testing through Revvity Omics. The program covers the cost of diagnostic testing at no charge, and the ordering process is managed through the Revvity Omics platform. For questions or to initiate testing, clinicians can contact the Roadmap2Rare program directly.
Which patients are eligible for Roadmap2Rare Hypertrophic Cardiomyopathy genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- 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.
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