About us

The Core Molecular Diagnostic Laboratory serves as a central hub for advanced genetic testing within the McGill University Health Center (MUHC) network, part of the MSSS, encompassing 17 hospitals and health centers. Our laboratory is a leading provider of genetic testing in Quebec, processing over 20,000 samples yearly.

We are a state-of-the-art laboratory, continuously evolving to meet clinical needs and advance genetic testing. We offer a comprehensive range of molecular diagnostic tests, including:

  • Molecular diagnostics for inherited disorders, such as cystic fibrosis, sickle cell, and Huntington disease
  • Genetic screening for hereditary cancer syndromes
  • Tumor profiling to guide personalized targeted therapies

The CMDL is accredited by the SCC (Standards Council of Canada), demonstrating conformance to ISO standard 15189 (Medical laboratories — Requirements for quality and competence). The CMDL successfully participates yearly in External Quality Assurance programs offered by the College of American Pathologists (CAP), the European Molecular Quality Network (EMQN) and Genomics Quality Assessment (GenQA), covering all tests offered by the lab.

Our team consists of highly trained laboratory technologists, genetic counsellors, bioinformaticians, medical geneticists and medical biology specialists complemented by PhD scientists certified by the Canadian College of Medical Genetics (CCMG) and the American board of medical genetics and genomics (ABMGG) in molecular genetics. These experts oversee all laboratory activities, ensuring rigorous quality standards and compliance with best practices. Our laboratory holds the ISO15189 accreditation.

Our laboratory actively contributes to the education of future molecular genetics professionals, including medical residents, genetic counsellors, laboratory technologists, and graduate students. We are also one of only two CCMG‑accredited training center in Quebec, authorized to train PhD candidates pursuing a certification in Clinical Genetics and Genomics Diagnostic.

Our multidisciplinary team collaborate closely with clinicians, geneticists, and pathologists to deliver clinically relevant and precise results that support optimal patient care.