Cystinuria (Type 1)

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Related Terms: rBAT, SLC3A1

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Dogs have elevated urine cystine concentrations from birth and male dogs typically form cystine stones by one year of age (affected female dogs typically do NOT form cystine stones).

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - Labrador Retriever
Canine - Newfoundland
Canine - Scottish Terrier

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Hematuria, stranguria, urinary obstruction, cystine crystalluria and urolithiasis. Urinary obstruction in affected female dogs is less frequent than in affected male dogs.

Affected dogs can block repeatedly, but there are no studies to determine the effect on lifespan.

Autosomal recessive

Histological changes are largely dependent on the extent of blockage and crystal formation. These can range from thickened bladder wall with invasion of inflammatory cells to nephritis.

SLC3A1 and NM_001003109.1:c.350delG (Labrador Retriever) SLC3A1 and NM_001003109.1:c.586C>T (Newfoundland) Unpublished (Scottish Terrier)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Cystinuria (Type 1) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Cystinuria (Type 1) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Cystinuria (Type 1) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3. PMID: 24001348; PMCID: PMC3946761. Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet. 2000 Oct;107(4):295-303. doi: 10.1007/s004390000392. PMID: 11129328.