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Breeds Affected: Airedale Terrier, Alaskan Klee Kai, American foxhound, Beagle, Finnish Hound, German Wirehaired Pointer, Giant Schnauzer, Irish Water Spaniel, Japanese Spitz, Miniature Schnauzer, Papillon, Scottish Deerhound, Sealyham Terrier, Welsh Springer Spaniel

Samples Accepted: Blood, Buccal Swabs

Disease Information: This bleeding disorder is caused by a mutation in the F7 gene, leading to a problem with blood coagulation. Severity of the disorder is variable: in some cases problems are only noted in pregnant or postpartum females (eg. uterine hemorrhage), while other animals may demonstrate greatly prolonged bleeding from injuries or surgeries.

Inheritance Information: Factor VII deficiency is autosomal recessive, meaning that animals with two copies of the mutated allele are affected, and animals with one copy are clinically-normal carriers.

The possible genotypes are:
N/N The dog is normal, and cannot produce Factor VII deficient offspring.
N/fVII The dog is a carrier of Factor VII deficiency, and can pass the allele on to approximately 50% of any offspring. If bred to another N/fVII carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
fVII/fVII The dog is affected with Factor VII deficiency. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/fVII carrier, 50% of the offspring will be carriers and 50% will be affected.

– Carriers may be bred to normal animals (N/fVII x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/fVII x N/fVII) is not recommended due to the possibility of 25% of the offspring being affected.

Test Information: This mutation test identifies a single base change in exon 5 of the F7 gene. The mutation is the same in both breeds.

Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H. :Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.

Callan, MB., Aljamali, MN., Margaritis, P., Griot-Wenk, ME., Pollak, ES., Werner, P., Giger, U., High, KA.: A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 4:2616-22, 2006. Pubmed reference: 16961583. Doi: 10.1111/j.1538-7836.2006.02203.x.

Kaae, JA., Callan, MB., Brooks, MB.: Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med 21:976-81, 2007. Pubmed reference: 17939552.

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D143

Cost: 35 € (excl. VAT)

Time: 7-10 days

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