National Genotyping Service

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Introduction:
A central, reference mutation testing laboratory was initiated at Queen's University in Kingston in November 2000, with funds from Health Canada. The testing in the laboratory is performed by two technologists: Jayne Leggo and Shawn Tinlin. The laboratory is located on the fourth floor of the Richardson Laboratory building in the Department of Pathology and Molecular Medicine at Queen's University.

Facility Purpose:
The objective of this core AHCDC facility is to provide a national service for genetic analysis of inherited bleeding disorders.

Methodologies:
Samples for analysis are sent to Kingston as genomic DNA or whole blood from which DNA is extracted. DNA is amplified using PCR and the amplified fragments are analyzed by DNA sequence analysis.

Report turnaround time:
When requested (e.g. in instances of prenatal testing) and when the pedigree-specific mutation is known, a result can be reported in 7-10 days. In most instances, results are reported in 1-3 months.

Initially funded by Health Canada, and then Baxter Bioscience, the laboratory is now supported with funds from the AHCDC internal budget.

This facility has become a critical component of the clinical service and research infrastructure that makes the Canadian hemophilia community the envy of many around the world.

Referrals to this laboratory have continued to increase each year. Each year, we present our annual level of activity at the AHCDC Annual Meeting, and in May 2011, we reported the generation of 273 hemophilia A test results, 35 hemophilia B studies and 94 von Willebrand disease tests for the previous calendar year.

As time has moved on, the technology and diagnostic strategy utilized in this laboratory has also changed dramatically. Currently, we use direct sequencing of PCR amplified templates for all of our studies, and the costs and efficiencies of the studies continue to improve. In addition, over time, we have expanded our testing repertoire to include some types of von Willebrand disease, and have occasionally also performed testing for less frequent inherited bleeding disorders such as factor XI and V deficiencies.

The laboratory is preparing to become an accredited facility (through the Institute for Quality Management in Healthcare) in the summer of 2016.

CONTACT
National Genotyping Servicetudy – contact:

Dr Paula James

Dr. David Lillicrap

National Program for Hemophilia Mutation Testing
Richardson Laboratory, Room 201
88 Stuart Street
Department of Pathology, Queen's University
Kingston, ON K7L 3N6
attn: Jayne Leggo nphmt@clinlabs.path.queensu.ca
Tel: 613 533-3187
Fax: 613 533-2907