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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Ramirez, C. J., Krug, M., Zahand, A., Sundin, K., Shaffer, L. G., & Ballif, B. C. (2019). Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing. Journal of Veterinary Diagnostic Investigation, 31(2), 276–279. https://doi.org/10.1177/1040638718825281
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