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Breeds Affected: Bull Terrier, Miniature Bull Terrier

Samples Accepted: Blood, Buccal Swabs

Disease Information: Polycystic Kidney Disease (PKD) is characterized by the development of cysts in the kidney, eventually leading to chronic renal failure in middle-age to old animals.

Inheritance Information: PKD is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.

The possible genotypes are:
n/n The dog is normal, and cannot produce affected offspring.

n/PKD The dog is affected, and 50% of the offspring will be affected.

PKD/PKD The dog is affected, and 100% of the offspring will also be affected.

– Affected animals (n/PKD, PKD/PKD) should not be used for breeding.

Test Information: This mutation test identifies a single base pair change in exon 29 of the PKD1 gene.

Gharahkhani, P., O’Leary, C.A., Kyaw-Tanner, M., Sturm, R.A., Duffy, D.L.: A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers PLoS ONE 6:e22455, 2011. DOI: 10.1371/journal.pone.0022455

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

Test #: D110

Cost: 35 € (excl. VAT)

Time: 7-10 days

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