Cystinuria (Type 2)

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Related Terms: b(0,+)AT1, b0,+AT, bo,+, rBAT, SLC3A1, SLC7A9

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Age of Onset

Dogs have elevated urine cystine concentrations from birth and those homozygous for an incompletely dominant allele typically block by one year. Heterozygous dogs may or may not block later in life.

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Sample Processing

Cost: $75.00

Species and Breeds

Canine - Australian Cattle Dog

Canine - Miniature Pinscher

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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.

Mode of Inheritance

Incomplete Autosomal Dominant

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.

Disease Associated Gene and Variant (Mutation)

SLC3A1 and NM_001003109.1:c.1095_1100del (Australian Cattle Dog) SLC7A9 and NM_001048109.1:c.964G>A (Miniature Pinscher)

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 2) and all of their offspring will also be unhealthy (affected) by inheriting 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)	Unhealthy (Affected)	Heterozygous Affecteds (1-2) are expected to develop signs consistent with Cystinuria (Type 2) and each of their offspring has a chance of being unhealthy (affected) by inheriting 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.
1-1 (Homozygous Normal)	Healthy (Normal, Clear)	Homozygous Normals (1-1) are not expected to develop signs of Cystinuria (Type 2) 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.