57,48 47,50 IVA esclusa

H929

Cystinuria is a genetic disorder that leads to recurrent urolith formation.

Working days 10

Specifiche

Breeds

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Informazioni generali

Cystinuria is a genetic disorder that leads to recurrent urolith formation. The disorder is associated with a mutation in the SLC7A9 gene. The mutation causes hyperexcretion of cystine in the urine and sebsequent precipitation of cystine.

Clinical signs include cystine stones in the kidneys, ureters, and bladder. Once a stone is formed, the following signs and symptoms can occur nausea, flank pain, urinary tract infections and rarely, acute or chronic kidney disease.

Caratteristiche cliniche

Informazioni aggiuntive

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.

Riferimenti

Pubmed ID:

Omia ID:

Come funziona?

1. Seleziona il tuo/tuoi prodotto/i

Seleziona un singolo test, un pacchetto CombiBreed o crea il tuo pacchetto personalizzato

2. Raccogli il campione di DNA

Campiona il DNA come indicato nei nostri prodotti e invialo al nostro laboratorio

3. Risultati

Ci occupiamo del tuo DNA con cura e ti forniamo i risultati del test

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