Factor XI Mutation

(This entire article can be read by going to the website for the University of Pennsylvannia: School of Veterinary Medicine – Department of Clinical Studies, Philadelphia.
Please see the specific PDf files below.
This information has been posted with permission from Dr. Urs Giger.)

Description: Several hereditary bleeding disorders have been identified in many different canine breeds and involve clotting (coagulation) factor deficiencies, platelet disorders, and von Willebrand disease. Coagulation factor XI (FXI) deficiency in the Kerry Blue Terrier breed was first described in the 80′s (Knowler C, Giger U, Dodds WJ, Brooks M, JAVMA, 205: 1557, 1994). Since then affected dogs have been recognized on a regular basis, but the distribution and frequency of this bleeding disorder is unknown in Kerry Blue Terriers. The defect is inherited by an autosomal trait with dogs homozygous and possibly heterozygous having an excessive bleeding tendency. Very recently the mutation causing FXI deficiency in Kerry Blue Terriers has been identified at the University of Pennsylvania now offering the opportunity to screen animals in the breed at risk for this mutation.

Submission forms for testing and the full article can be found at the links below. Use the individual PDF files to read the full article. For testing application you must go to the PennGen website.

Please Note: You now must go to the PennGen website link below in order to submit samples for testing. Their change of application submission is further explained.

“In our effort to streamline the process of sample submissions, payments and reporting we have upgraded the PennGen Sample Submission Application. We are no longer accepting hand filled submission forms. The PennGen Sample Testing Application will enable users to request a test, track the status, pay online using a credit card (Visa or MasterCard only) and view the results.”

PennGen Sample Testing Application

Factor XI deficiency in Kerry Blue Terrier dogs causing a mild bleeding disorder (Article in Full)

Instructions for Sample Submission

Last Updated: 03/07/2013, 8:57 am