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Cystinuria is a hereditary renal transport disorder.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Cystinuria is a hereditary renal transport disorder. The disease causes an error of the metabolism, which leads to the formation of cystine crystals and uroliths in the urinary tract. The formation can result in stranguria, hematuria, urinary obstruction and renal failure. The disorder is caused due to a mutation in the solute carrier family 3 (amino acid transporter heavy chain) member 1 (SLC3A1) gene.

Clinical features

Clinical signs include hematuria, dysuria, pollakiuria, urinary obstruction with postrenal failure.

Additional information

This test is based on an association study.

References

Pubmed ID: 25417848

Omia ID: 256

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