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Cardiology / GeneticsHypertrophic Cardiomyopathy (HCM)

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 help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

Roadmap2Rare is a complimentary testing program in Canada that helps evaluate rare diseases using genetic and biochemical tests. It’s offered by Revvity Omics in collaboration with Sanofi Canada and is available through your healthcare provider. Your clinician will decide which test is appropriate for you.

Who this may help

Could this be right for you or your family?

  • You have a diagnosed heart condition (cardiomyopathy or unexplained heart rhythm problem).
  • OR you have a confirmed family history of hypertrophic cardiomyopathy (HCM) without a known cause.
  • Not for carrier testing. Your clinician will confirm if this pathway fits your situation.

What to expect

How the process works

  1. 1

    Choose & order

    Your clinician decides if this test fits your situation and submits the order.

  2. 2

    Collect & ship

    Provide the sample using the kit and instructions; the clinic or lab ships it to Revvity.

  3. 3

    Get results

    Results go to your clinician, who explains what they mean and next steps.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

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

Common questions about this program

What is this program for?

It helps evaluate hypertrophic cardiomyopathy (HCM) using a DNA test that looks at many genes linked to inherited heart muscle disease.

Who is it for?

People with a diagnosed cardiomyopathy or unexplained heart-rhythm problem, or those with a confirmed family history of HCM.

What does the test look for?

Changes (variants) in 60 genes associated with HCM and related conditions, including key sarcomeric genes such as MYH7 and MYBPC3.

How will results help me?

Results can confirm a genetic cause, guide care and surveillance, and help inform testing recommendations for relatives.

How long do results take?

Timing varies by test; your clinician will advise when to expect results and will review them with you.

Will this tell me if I’m a carrier?

This pathway isn’t designed for carrier screening; it’s for evaluating suspected or confirmed HCM. Ask your clinician about targeted family testing if needed.

What happens if my result is “uncertain”?

Some findings are variants of uncertain significance (VUS). Your care team will explain what that means and whether follow-up is recommended.

What if no genetic cause is found?

You may still have HCM from other factors; your clinician will discuss management and whether further testing is appropriate.

Test details

  • Formal test nameHypertrophic Cardiomyopathy (HCM) Panel (60 genes) SAN030
  • ConditionHypertrophic Cardiomyopathy (HCM)
  • Test typeLarge NGS Panel
  • Genes / markers
    60
  • Key genes / markersMYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1, TNNC1, MYH6, FLNC, PRKAG2, LAMP2, GLA, PLN
  • SpecimenWhole blood•Dried blood spot (DBS)•Saliva
  • Turnaround timeNot specified
  • LabRevvity Omics, Inc.
  • Program regionCanada

Next steps

Share this information with your cardiologist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Revvity Omics, Inc..

Other Tests in This Program

Pompe Disease Test

Roadmap2Rare•Sanofi

Fabry Disease Test

Roadmap2Rare•Sanofi

Gaucher Disease and ASMD (Niemann-Pick A/B)

Roadmap2Rare•Sanofi

Mucopolysaccharidosis I (MPS I)

Roadmap2Rare•Sanofi

Muscle Disorders Panel

Roadmap2Rare•Sanofi

Questions to ask your doctor about Hypertrophic Cardiomyopathy (HCM) Panel

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

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