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Dog DNA testing illustration

Xanthinuria, type 2 – Spaniel variant

Code: H966

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications.

General information

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Cavalier King Charles Spaniel and English Cocker Spaniel. Related variants are also found in the Dachshund and Manchester Terrier.

Specifications

Breeds

Cavalier King Charles Spaniel, English Cocker Spaniel
Gene

MOCOS
Chromosome

7
Mutation

c.383delC
Organ

Urinary system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Symptoms of xanthine urinary stones can include straining to urinate, frequent urination, bloody urine and in advanced cases life-threatening urinary tract obstruction. The disease can present anywhere between several months and several years of age.

References

Pubmed ID: 34584846

Year published: 2021

Omia ID: 1819

Omia variant ID:

Turnaround information

  • 15 working days