Laboratory Services and Affiliates

The Molecular Genetics, Biochemical Genetics, and Cytogenetics laboratories perform various highly specialized diagnostic tests.


Molecular Genetics Laboratory

The molecular genetics laboratory at the Montreal Children’s Hospital is committed to developing state-of-the-art DNA tests for genetic disease diagnostics. In addition to performing routine DNA tests for genetic disease, it is  involved in the application of new technology for the development of novel and improved tests for genetic disease and cancer.

Director, Montreal Children's Hospital: Dr. Andrea Ruchon
Associate Director, Montreal Children's Hospital:Dr. Isabelle De Bie
Director, Royal Victoria Hospital: Dr. David Rosenblatt

For more information about the molecular genetics laboratory, visit their dedicated website here.

Biochemical Genetics (BCG) Laboratory 

Inborn errors of metabolism (IEM) constitute a large group of rare disorders requiring first to identify the patient’s disease and second to monitor its course after instituting treatment. IEM are diagnosed by detecting pathological metabolites or abnormal levels of normal metabolites in body cells or fluids, mostly plasma, urine and cerebrospinal fluid. Defective enzymes, cofactors or transport systems are often the cause of IMD. 

The mandate of the BCG laboratory includes:

  • Laboratory workup of patients suspected of IEM 
  • Monitoring the management of patients with IEM
  • Handling skin fibroblasts cultures for diagnostic purposes 

These goals are accomplished through a broad range of qualitative and quantitative screening tools. We collaborate with other BCG laboratories across Québec (Sainte-Justine University Hospital Center, Sherbrooke University Health Centre, and Quebec University Health Centre) to offer a comprehensive directory of tests to the clinicians. The tests currently done at the Montreal Children’s Hospital BCG laboratory are:

  • Plasma, urine and CSF amino acid profiling (method: Ion-exchange chromatography)
  • Leukocyte and fibroblasts cystine analysis for Cystinosis (method: Ion-exchange chromatography)
  • Serum and leukocyte β-Hexosaminidase A and B activity for Tay-Sachs and Sandhoff diseases (method: Fluorometric assay)
  • Carbohydrate Deficient Transferrin for detection of Congenital Disorders of N-Glycosylation (method: Capillary Zone Electrophoresis) 

Associate Directors: Dr. Daniela Buhas, Fabienne Parente

For detailed information about handling fibroblast cultures, click here

Research and Development focus

The laboratory continues to be involved in the development and application of new methodologies for the diagnosis and monitoring of inherited metabolic diseases. We are currently developing a new point of care targeted metabolic screening approach using Nuclear Magnetic Resonance Spectroscopy (NMRS).

Contact us: 514-412-4400 extension  22071

Cytogenetics Laboratory (Affiliate laboratory)

The cytogenetics laboratory of the department of pathology is an affiliate-laboratory that offers chromosome analysis by standard cytogenetic techniques as well as metaphase and interphase fluorescence in situ hybridization for locus-targeted analyses. Services are available to healthcare providers and institutions both within and outside the McGill University Health Centre.

Director: Dr. Alessandra Duncan
Associate Directors: Dr. Miriam Blumenkrantz, Dr. Josée Lavoie

Contact:  514 412-4432.