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Peer-reviewed veterinary case report

Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.

Journal:
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
Year:
2019
Authors:
Ramirez, Christina J et al.
Affiliation:
Genetic Veterinary Sciences Inc.
Species:
dog

Abstract

Canine inherited factor VII deficiency is a mild-to-moderate, inherited coagulopathy that affects several breeds of dog. We identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/30661469/