Affected genes: KCNJ10
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 38g.22140300C>G c.627C>G
OMIA link: 002089-9615Appropriate breeds for testing: Basenji, Chihuahua, Fox Terrier, Miniature Fox Terrier, Wirehaired Fox Terrier, Smooth Fox Terrier, Jack Russell Terrier, Parson Russell Terrier, Russell Terrier
References:
Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD. A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both. J Vet Intern Med. 2014Rohdin C, Gilliam D, O'Leary CA, O'Brien DP, Coates JR, Johnson GS, Jaderlund KH. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in smooth-haired fox terriers with hereditary ataxia and in related breeds. Acta Vet Scand. 2015 May 23;57:26.
Spinocerebellar Ataxia And Myokymia (SCA, KCNJ10)
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.