€57,48 €47,50 excl. VAT
Cystinuria is a hereditary renal transport disorder.
4 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
|Mode of Inheritance|
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 signs include hematuria, dysuria, pollakiuria, urinary obstruction with postrenal failure.
This test is based on an association study.
Pubmed ID: 25417848
Omia ID: 256