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GTR Home > Laboratories > CHEO Genetics Diagnostic Laboratory

CHEO Genetics Diagnostic Laboratory

GTR Lab ID: 1050, Last updated:2022-07-19

Personnel

  • Director: Jean McGowan-Jordan, PhD, Lab Director
    Phone: 613-737-7600
    Fax: 613-738-4814
    Email: jordan@cheo.on.ca
  • Gabrielle Mettler, MS, CGC, Administrator
    Phone: 613-737-7600
    Fax: 613-738-4822
    Email: gmettler@cheo.on.ca
  • Melanie Beaulieu Bergeron, Lab Associate Director
    Phone: 613 737 7600 x2979
    Fax: 613 738 4814
    Email: mbeaulieu@cheo.on.ca
  • Lucas Bronicki, Lab Associate Director
    Phone: 613-737-7600 ext 3873
    Email: lbronicki@cheo.on.ca
  • Lijia Huang, PhD, Lab Associate Director
    Phone: 613-737-7600 ext 3874
    Fax: 613-738-4814
    Email: lhuang@cheo.on.ca
  • Olga Jarinova, PhD, Lab Associate Director
    Phone: 613-737-7600 ext 3794
    Fax: 613-738-4814
    Email: ojarinova@cheo.on.ca
  • Liz Sinclair-Bourque, MS, Administrator
    Phone: 613-737-7600
    Fax: 613-738-4814
    Email: lsinclair@cheo.on.ca
  • Amanda Smith, Lab Associate Director
    Phone: 613 737 7600 x3282
    Fax: 613 738 4814
    Email: amsmith@cheo.on.ca

Conditions and tests

  • Angelman syndrome1 test
  • Arrhythmogenic right ventricular cardiomyopathy2 tests
  • Arterial tortuosity syndrome2 tests
  • Breast-ovarian cancer, familial, susceptibility to, 13 tests
  • Breast-ovarian cancer, familial, susceptibility to, 23 tests
  • Cardiomyopathy1 test
  • Facioscapulohumeral muscular dystrophy 11 test
  • Familial pancreatic carcinoma1 test
  • Fragile X syndrome1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary hemochromatosis1 test
  • Hypertrophic cardiomyopathy2 tests
  • Loeys-Dietz syndrome2 tests
  • Marfan syndrome2 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
  • Myotonic dystrophy type 21 test
  • Oculopharyngeal muscular dystrophy1 test
  • Prader-Willi syndrome1 test
  • Spinal muscular atrophy1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Thrombophilia due to thrombin defect1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Carrier testing
  • Result interpretation
  • Uniparental Disomy (UPD) Testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.