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Cystinuria is a genetic disorder that leads to recurrent urolith (urinary stone) formation.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 10 |
| Mutation | c.574A>G |
| Mode of Inheritance | Autosomal Recessive with Incomplete Penetrance |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Cystinuria is a genetic disorder that leads to recurrent urolith (urinary stone) formation. The disorder is associated with a mutation in the SLC3A1 gene. The mutation causes hyperexcretion of cystine in the urine and subsequent precipitation of cystine.
Caractéristiques cliniques
Clinical signs include cystine stones in the kidneys, ureters, and bladder. Once a stone is formed, the following main symptoms can occur: pain during urination (dysuria), urinary tract infections, inability to urinate and urinary tract obstructions.
Additional Information
This test is based on a genome wide association study. This study described multiple DNA variants that may be related to cystinuria. Each DNA variant is a “risk factor”. The inheritance is not yet known, but an incompletely recessive pattern is suggested.
Références
Pubmed ID: 16845473
Year published: 2006
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