Affected genes: F7
Inheritance: Autosomal recessive
Mutation: CanFam3.1 22 g.60578895G>A c.407G>A p.(G136E)
OMIA link: 000361-9615
Appropriate breeds for testing:
Airedale Terrier, Alaskan Klee Kai, American Foxhound, Aussiedoodle, Australian Shepherd, Beagle, Deutsch Kurzhaar, Deutsch-Drahthaar, Finnish Hound, German Shorthaired Pointer, German Wirehaired Pointer, Giant Schnauzer, Irish Water Spaniel, Japanese Spitz, Miniature American Shepherd, Miniature Australian Shepherd, Miniature Schnauzer, Papillon, Phalene, Redbone Coonhound, Schnoodle, Scottish Deerhound, Sealyham Terrier, Toy Australian Shepherd, Welsh Springer Spaniel.
Symptoms:
Coagulation factor VII deficiency is an inherited bleeding disorder affecting beagles. The absence of factor VII leads to a mild to moderate bleeding disorder.References:
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. 2006 Dec; 4(12):2616-22. [PubMed:16961583]
Carlstrom LP, Jens JK, Dobyns ME, Passage M, Dickson PI, Ellinwood NM. Inadvertent spread of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med. 2009 Aug;59(4):378-82. [PubMed:19712579]
Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen 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. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650]
Factor VII Deficiency (F7)
5 tests et + 55$ch.
Délais de traitement
Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.