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Cystinuria (Newfoundland Type)

Cystinuria (Newfoundland Type)

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Test Overview:

Avoid breeding two carrier or affected dogs to prevent affected offspring. Use genetic testing to guide selection of breeding pairs to reduce disease frequency while maintaining genetic diversity. Responsible breeders should aim to eliminate or minimize the mutation prevalence in the breed over time through informed breeding decisions.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

Solute carrier family 3 member 1 (SLC3A1) on chromosome 10

Variant Detected:

Base Substitution c.586C>T p.Arg221STOP

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Breeding animals should be screened prior to entering into breeding programs. Genetic testing of the SLC3A1 gene will reliably determine if a dog is a genetic carrier of cystinuria (Newfoundland type).

Research Citation(s):

Henthorn PS, et al. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.(2000), Hum Genet, 107;295-303.

Associated Breed(s):

Harlequin Pinscher, Landseer ECT, Mixed Breed, Newfoundland,

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