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H929

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

10 working days

€5,95 shipping and administration per order (incl. VAT)

Specifications

Breeds

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

General Information

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.

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.

Clinical features

References

Pubmed ID:

Omia ID:

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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