The National Inherited Bleeding Disorder Genotyping Laboratory

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

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

The laboratory is now licenced by the Ontario Ministry of Health and Long-term Care, (MOHLTC) to provide molecular diagnostics for hemophilia A, hemophilia B and von Willebrand disease. The facility is also accredited by the Institute for Quality Management in Healthcare (IQMH) to ISO 15189.

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:
The average time for test reporting for affected patients is approximately 2-3 months from the time of sample submission. If the family-specific mutation is known, urgent reporting can be completed within several weeks.

Carrier testing for females with an unknown family history may take 3-6 months; in these cases provisional reports may be issued prior to final confirmation. For some patients, mutations are not immediately identified and in these cases the search for the causative genetic change may take several months.

Reports will only be issued to caregivers listed on the requisition forms.

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.

CONTACT
National Inherited Bleeding Disorder Genotyping Lab
Richardson Laboratory, Room 201
88 Stuart Street
Department of Pathology, Queen's University
Kingston, ON K7L 3N6
attn: Shawn Tinlin/Gina Jones
nphmt@clinlabs.path.queensu.ca
Tel: 613 533-3187
Fax: 613 533-2907