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Molecular Services

Molecular Genetics

The molecular genetics laboratories actively support clinical testing and research in human genetics and molecular medicine.

The clinical genetics laboratory conducts diagnostic 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 on how to order a test, or collect and submit a specimen for testing, refer to the Division of Laboratories Specimen Collection Manual. The specimen must be accompanied by the appropriate requisition with complete and accurate contact information for the ordering physician.

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

Molecular Microbiology

The Microbiology department is increasingly using state-of-the-art molecular techniques to aid in the diagnosis and management of a variety of infectious diseases. These methods include nucleic acid amplification assays such as the polymerase chain reaction (PCR), and molecular typing methods such as pulsed-field gel electrophoresis (PFGE).

In our laboratory, PCR-based methods allow for the rapid and accurate diagnosis of emerging infectious diseases, and infections caused by fastidious microorganisms, including Chlamydia trachomatis, viral agents such as Herpes simplex, Influenza virus (avian influenza), SARS-associated coronavirus, and the pathogens responsible for bacterial meningitis (Streptococcus pneumoniae, Neisseria meningitidis). Assays have also been developed to identify group A Streptococcus from tissues of patients with necrotizing fasciitis (so-called 'flesh-eating disease'), and the toxins of Escherichia coli causing gastroenteritis. Finally, PCR assays to detect antibiotic resistance determinants in methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant Enterococcus (VRE) have also aided in the management of serious infections caused by these organisms. More recently, real-time PCR assays have been introduced, allowing for accurate detection of infectious agents or antimicrobial resistance markers directly from patient specimens within hours.

Molecular typing by PFGE is an essential component of the hospital's Infection Prevention & Control program, in order to help track the transmission of infections within the hospital.

The hospital's Microbiology laboratory conducts research in the application of these molecular tools to clinical medicine, and has become a regional and national referral centre for molecular testing. Our laboratory is recognized internationally, nationally and provincially for our expertise in molecular diagnostic techniques as well as molecular epidemiology.

Molecular Pathology

The molecular pathology laboratory is located at the Sunnybrook campus in the department of Anatomic Pathology. Our service is focused on DNA diagnostic testing for oncologic diseases, including:

  • B-cell and T-cell receptor studies on blood, bone marrow and tissue specimens
  • Colon cancer studies using microsatellite instability techniques on tissue specimens
  • Human papillomavirus studies on liquid-based gynae cytology specimens of patients at-risk for developing cervical cancer

Research studies involving DNA microarray technology for gene expression analysis,protein expression by tumour tissue arrays, and high throughput DNA sequencing are actively used. 

For guidance on collecting and submitting specimens to us please refer to our Specimen Collection Instructions Manual. Please consult with the pathologist if requesting molecular studies for diagnostic purposes.

If inquiring about testing services for research, method development or educational purposes please contact Dr. Arun Seth, the Director of Molecular Diagnostics, at or the laboratory manager at