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

JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION(2019)

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摘要
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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关键词
Dogs,factor VII deficiency,genetic testing,laboratory proficiency testing
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