From May 1st 2021 the NIBDGL will no longer use legacy numbering when reporting variants. Variants will be reported using HGVS nomenclature only.
Please note that the NIBDGL will close on December 23rd 2020 for the holiday period and will reopen on January 4th 2021. The NIBDGL team wish you and yours a very happy holiday season, and a happy and healthy New Year!
Starting in January 2021the NIBDGL will begin reporting via CBDR. Please make sure to include patients CBDR # on test requisitions.
Our updated consent forms and requisition forms are now available in English and in French. To access these forms please select the "Forms" tab above.
Our 2019 Annual Report is available here.
A message from our Lab Director regarding NIBDGL activities during the COVID-19 pandemic.
Welcome to Christine Brown and Aomei Mo, who join the NIBDGL as Laboratory Assistants.
Please note that the lab will be closed from December 16th to January 6th to facilitate staff holidays.
We are pleased to confirm the renewal of our lab licence by the Ministry of Health and Long-term Care (MOHLTC). View our renewed licence here.
Welcome to Dr. Mackenzie Bowman, who joins the lab as a Senior Clinical Scientist.
Our 2018 Annual Report is now available.
Congratulations to Dr. Orla Rawley who will be presenting our abstract "Co-dominant mixed phenotype von Willebrand disease caused by a novel cysteine variant that results in both qualitative and quantitative von Willebrand factor defects" at the AHCDC AGM in Montreal on Saturday May 25th. We hope to see you there!
Please note that the lab will be closed from December 21 2018 through January 3 2019 for staff holidays.
We are pleased to confirm that we are now licenced by the Ministry of Health and Long-term Care (MOHLTC) to provide molecular diagnostics for hemophilia A, hemophilia B and von Willebrand disease.
We are also now accredited by the Institute for Quality Management in Healthcare (IQMH) to ISO 15189.
This new information will be reflected on all outgoing patient reports.
The NIBDGL welcomes Dr. Orla Rawley to the lab, who joins us as a Senior Clinical Scientist. Dr. Rawley will be assisting in the lab with assay development and
sample testing. Dr. Rawley will also research unique hemophilia B variants that have been identified in the Canadian population.
Dr. Julie Gauthier will be presenting our abstract "Whole F8 and VWF gene sequencing using Next-Generation Sequencing for mutation-negative French and Canadian hemophilia A patients" at the AHCDC AGM in Quebec City on Saturday June 2nd. We hope to see you there!
French Requisitions, Consent Forms, and Sample Collection Instructions are now available. Thank you (merci!) to Dr. Stéphanie Cloutier for the translation.
We also have updated our English Requisition and Consent Forms.
You can access all of our forms here:
Our 2017 Annual Report is now available.
We have received our provisional licence from the Ontario Ministry of Health and Long-Term Care for F8, F9, and VWD molecular diagnostics. Our regular licence will be issued upon completion of a laboratory inspection
Please see the attached letter for an update from our Lab Director regarding our licencing and accreditation progress, turnaround times, incomplete requisitions, and carrier testing. Please be advised that TATs may be extended for the foreseeable future.
Our 2016 Activity Report is now available:
Dr. Fanny Lassalle and Dr. Laura Swystun will be presenting research abstracts at the upcoming AHCDC annual general meeting. You can view our abstracts in advance below:
Fanny Lassalle - The Application of Next-Generation Sequencing for Hemophilia A and B Genotyping
Laura Swystun - Common single nucleotide variants in the stabilin-2
(STAB2) gene influence von Willebrand Factor levels in type 1
von Willebrand disease patients
We are pleased to announce a new research initiative involving F8 whole gene sequencing for "mutation negative" hemophilia A patients. Dr. Fanny Lassalle, a vising MSc candidate from Lille, France will be spearheading this study. Please contact Dr. Lassalle at if you have any questions about this project.
We would like to welcome Gina Jones to the lab, who has been recently hired for our Medical Laboratory Technician position.
Turnaround times may be affected over the next several months. Please clearly indicate STAT samples on the requisition form.
Jayne Leggo has now retired. Please direct inquiries and packages to Shawn Tinlin. Our telephone number, email, and mailing address remain the same.
View our AHCDC abstract here:
Our 2015 annual activity report is now available
Interested in our new reporting format?
View our poster at the AHCDC AGM in Vancouver, BC on April 30th:
Assessment of unclassified genetic variants in the Canadian inherited bleeding
disorder population using pathogenicity interpretation software
The formatting of issued reports will change slightly.
Please note that all variants will be issued in HGVS nomenclature first with legacy nomenclature (for F8 and F9 variants) also provided.
Interpretation of variant pathogenicity may also be provided when appropriate.
New requisition forms are available in the "Forms" tab.
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A message from the Lab Directors
Providing molecular diagnostic services to the Canadian inherited bleeding disorder community.