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Cystinuria is a hereditary renal transport disorder.
4 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Clinical signs include hematuria, dysuria, pollakiuria, urinary obstruction with postrenal failure.
Tilleggsinformasjon
Denne testen er basert på et assosiasjonsstudie.
Referanser
Pubmed ID: 25417848
Omia ID: 256