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Molecular Diagnostics

Requisitions

In-house testing

To order an in-house somatic or germline molecular test, please fill out the appropriate requisition and follow the instructions for sample delivery. 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 on Monday to Wednesday.

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 V617F and CALR mutations
  • BCR::ABL1 p210 (monitoring)
  • PML::RARA (diagnostic)
  • FLT3 and NPM1 (diagnostic)
  • Myeloid NGS (chronic and acute myeloid malignancies)
  • High-risk human papillomavirus types on liquid-based gynecological cytology specimens of patients at-risk for developing cervical cancer
  • Bladder cancer biomarkers
  • Breast cancer biomarkers
  • Colorectal cancer biomarkers
  • Endometrial cancer biomarkers
  • Glioma biomarkers
  • Lung cancer biomarkers
  • Melanoma biomarkers
  • Prostate 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.
  • Methylation of MGMT promoter
  • Methylation of MLH1 promoter

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 variants in the hemochromatosis (HFE) gene
  • common variants in the thiopurine methyltransferase (TPMT) gene
  • common variants in the Dihydropyrimidine dehydrogenase (DPYD) 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 in urine or cervical swab.

If inquiring about testing services for research, method development or educational purposes, please contact Dr. Weei-Yuarn Huang, the Medical Director at weeiyuarn.huang@sunnybrook.ca or the laboratory manager at samuel.matsumura@sunnybrook.ca or the laboratory supervisor at betty.wong@sunnybrook.ca