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Molecular Diagnostics

In-house testing

Please see our Molecular Diagnostics Requisition form for a full menu of current in-house somatic (cancer) and germline (hereditary) molecular testing available. To order an in-house molecular test, please fill out this requisition and deliver to room E410 along with the sample. If the test is being requested on a sample that has already been reported or received by the laboratory, please fax the requisition to x4271. For information such as sample requirement and turn-around-time, refer to the department of laboratory medicine and molecular diagnostics Lab Test Information Guide.

Genetic testing of Factor V Leiden, Prothrombin 20210A and hemochromatosis (HFE) gene can be ordered in SunnyCare. For ordering instruction, refer to the SunnyCare Quick Reference after logging in.

Referred out testing

Specimens from Sunnybrook patients requiring molecular testing not currently performed at Sunnybrook require a laboratory requisition to be completed and submitted with the sample. Download the appropriate form on Sunnynet and deliver it to room E410. If the test is being requested on a sample that has already been reported or received by the laboratory, please fill out the appropriate referral laboratory requisition, and fax to our lab at 416-480-4271.

Samples being shipped outside of the GTA must be collected and received in the laboratory by Thursday at noon.

Molecular pathology (somatic cancer testing)

In molecular pathology, our laboratory is focused on DNA diagnostic testing for solid tumors and hematological diseases, including:

  • B-cell and T-cell clonality on blood, bone marrow and tissue specimens
  • JAK2 and CALR mutations in chronic myeloid lymphoma
  • High-risk human papillomavirus types on liquid-based gynecological cytology specimens of patients at-risk for developing cervical cancer
  • Colorectal cancer biomarkers
  • Lung cancer biomarkers
  • Melanoma biomarkers
  • Thyroid cancer biomarkers
  • Uveal melanoma biomarkers
  • Rapid testing of BRAF mutations in melanoma, EGFR in lung cancers, eRAS and MSI in colorectal cancers are also available for STAT samples.

Molecular genetics (germline hereditary testing)

The Molecular Diagnostics laboratory actively support clinical testing and research in human genetics and molecular medicine.

We offer clinical genetics tests including:

  • Factor V Leiden and Prothrombin 20210A
  • common mutations in the hemochromatosis (HFE) gene
  • common mutations in the thiopurine methyltransferase (TPMT) gene
  • HLA-B*5701 genotyping for abacavir hypersensitivity.

For information about genetic testing, visit the Genetic Testing Registry (GTR).

Molecular microbiology

Our laboratory uses PCR-based methods for the detection of Chlamydia trachomatis and Neisseria gonorrhoeae and the confirmation of vancomycin-resistant Enterococcus (VRE) isolated in cultures.

If inquiring about testing services for research, method development or educational purposes, please contact Dr. Weei-Yuarn Huang, the Medical Director at or the laboratory manager at or the laboratory supervisor at