Hypertrophic Cardiomyopathy Panel

As part of Sanofi Canada’s sponsored Roadmap2Rare Diagnostic Program, a new 60-gene hypertrophic cardiomyopathy (HCM) panel is available at no charge to facilitate differential diagnosis of various hypertrophic cardiomyopathies and their underlying disorders. This testing is made available in collaboration with Revvity Omics (formerly PerkinElmer Genomics).


This 60-gene panel will be available to patients with either:

  • a clinical diagnosis of cardiomyopathy or cardiac arrythmia of unknown etiology, or
  • a confirmed family history of hypertrophic cardiomyopathy of unknown etiology

What is hypertrophic cardiomyopathy (HCM)?

Hypertrophic cardiomyopathy (HCM) is defined by the presence of unexplained left ventricular hypertrophy (LVH) in the absence of other cardiac or systemic causes. It is frequently diagnosed by echocardiography and/or cardiac MRI.1 Differential diagnoses for HCM include secondary LVH and syndromic HCM, as seen in Fabry disease1 and the infantile-onset form of Pompe disease,2 where HCM is part of a constellation of phenotypic features. For individuals with HCM and no other systemic involvement (non-syndromic HCM), pathogenic genetic mutations account for 20-30% of probands without family history of HCM, and 50-60% of probands with family history.

Genetic testing is recommended for individuals who meet the diagnostic criteria for HCM and to confirm diagnosis in individuals with clinical evidence suggestive of HCM (Cirino and Ho, 2008).1

This next-generation sequencing (NGS) testing is offered at no-charge and with complimentary genetic consultation/ results interpretation for clinicians; genetic counselling for patients is also available. Clinicians can collect specimens with complimentary saliva swab kits or have Revvity mail kits directly to patients for self-collection.

For more information about the Roadmap2Rare Diagnostic Program services, and to access the HCM panel, please visit the Revvity Omics Roadmap2Rare landing page. Patient and physician identifying information provided to Revvity remains confidential and is not shared with Sanofi.

The HCM panel includes the following groups of disorders:

  • Hypertrophic cardiomyopathy,
  • Dilated cardiomyopathy,
  • Myopathy,
  • Myofibrillar myopathy,
  • Noonan/CFC/Costello syndromes,
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy,
  • Restrictive cardiomyopathy

Genes included in the HCM Panel


  1. https://www.ncbi.nlm.nih.gov/books/NBK1768/.
  2. Van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. PMID: 18929906."

The Roadmap2Rare Diagnostic Program is not intended to and should not interfere in any way with a clinician’s or patient’s independent judgment and freedom of choice in the testing and treatment options for these diseases. Clinicians and patients should always consider the full range of testing and treatment options and select those most appropriate for the individual patient. The identifying information of patients and clinicians is not shared with Sanofi Canada.