National Inherited Bleeding Disorder Genotyping Laboratory
Visit the National Inherited Bleeding Disorder Genotyping Laboratory (NIBDGL) Service website:
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 molecular diagnostic testing laboratory was initiated at Queen's University in Kingston in November 2000, with funds from Health Canada. The testing in the laboratory is currently performed by two technologists: Gina Jones and Samira Kheitan. 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 licenced by the Ontario Ministry of Health and Long-term Care, (MOHLTC) to provide molecular diagnostic testing for hemophilia A, hemophilia B and von Willebrand disease (VWD). The facility is also accredited by Accreditation Canada Diagnostics (ACD).
Methodologies
Samples for analysis are sent to Kingston as genomic DNA or whole blood from which DNA is extracted. Genetic analysis is performed by Sanger sequencing of the coding region of the gene of interest. For severe hemophilia A, F8 intron 22 inversion analysis is performed by inverse shifting PCR. F8 intron 1 inversion testing is also performed.
Test requisitions and sample collection and shipping information can be found at: https://www.nibdgl.ca/forms
Report turnaround time
The average time for test reporting for affected patients (Hemophilia A/B, VWD) is approximately 2-3 months from the time of sample submission. If the family-specific variant is known, urgent reporting can be completed within several weeks.
Hemophilia A/B 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, variants are not immediately identified and in these cases the search for the causative genetic change may take several months.
Testing for rare bleeding disorders may take 3-6 months.
Reports will only be issued to health care providers 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: Gina Jones/Samira Kheitan
Email: NIBDGL@queensu.ca
Tel: 613 533-3187
Fax: 343-344-2733