Affected gene: CEP290
Inheritance: Autosomal recessive
Mutation: Felis_catus_9.0 B4 g.112522818A>C c.7584+9T>G
OMIA link: 001244-9685
Breeds appropriate for testing:
Abyssinian, American Curl, American Shorthair, Balinese, Domestic Cat, Devon Rex, Donskoy, European Shorthair, Havana Brown, Highland Lynx, Maine Coon, Manx, Oriental Longhair, Oriental Shorthair, Peterbald, Pixie-bob, Ragdoll, Cornish Rex, Savannah, Scottish Fold, Siamese, Somali, Sphynx, Tennessee Rex
References:
Menotti-Raymond, M., David, V.A., Schäffer, A.A., Stephens, R., Wells, D., Kumar-Singh, R., O'Brien, S.J., Narfström, K.: Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered 98:211-20, 2007. PubMed reference: 17507457. DOI: 10.1093/jhered/esm019.
PRA-RdAC (Late Blindness), CEP290 Gene
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.