CHEO Genetics Diagnostic Laboratory

CHEO Genetics Diagnostic Laboratory
Children's Hospital of Eastern Ontario (CHEO)
401 Smyth Road
Ottawa, Ontario, Canada K1H 8L1
Phone: 613-737-7600
Fax: 613-738-4814
Email: lsinclair@cheo.on.ca
Online Contact: https://www.cheo.on.ca/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx
Website: https://www.cheo.on.ca/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx

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GTR Lab ID: 1050, Last updated:2024-07-04

Personnel

Director: Jean McGowan-Jordan, PhD, Lab Director
Phone: 613-737-7600
Fax: 613-738-4814
Email: jordan@cheo.on.ca
Liz Sinclair-Bourque, MS, Administrator
Phone: 613-737-7600
Fax: 613-738-4814
Email: lsinclair@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
Amanda Smith, Lab Associate Director
Phone: 613 737 7600 x3282
Fax: 613 738 4814
Email: amsmith@cheo.on.ca

Conditions and tests

21 conditions/phenotypes with 27 tests
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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 dystrophy1 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.