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

J Vet Diagn Invest. 2019 Mar;31(2):276-279. doi: 10.1177/1040638718825281. Epub 2019 Jan 19.

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.

Keywords: Dogs; factor VII deficiency; genetic testing; laboratory proficiency testing.

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Diagnostic Tests, Routine / methods
  • Diagnostic Tests, Routine / veterinary*
  • Dog Diseases / diagnosis*
  • Dogs
  • Factor VII / analysis
  • Factor VII / genetics*
  • Factor VII Deficiency / diagnosis
  • Factor VII Deficiency / veterinary*
  • Genetic Testing / methods
  • Genetic Testing / veterinary*
  • Genotype
  • Laboratory Proficiency Testing / methods*
  • Polymorphism, Genetic*

Substances

  • Factor VII