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Cystinuria (Type 1)

Related Terms:

rBAT, SLC3A1

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $75.00
Species and Breeds:
Canine - Labrador Retriever
Canine - Newfoundland
Canine - Scottish Terrier

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

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

Life Expectancy:

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

Inheritence Mode:

Autosomal recessive

Pathology:

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.

Mutation:

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T (Newfoundland) Unpublished (Scottish Terrier)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.

References:

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.