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Dog DNA testing illustration

Cystinuria (Type I – A) – Newfoundland

Code: H703

74,72 €

Sample details

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

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Short description

Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine.

General information

Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine. This buildup can form into painful kidney and bladder stones, which can cause further complications such as obstructed urine flow and may ultimately require an operation to remove. Dogs with cystinuria can be fed a special diet to minimize the chances of the formation of cysteine stones.

This particular type of the disease, Cystinuria type I-A, is caused by a recessive mutation to the gene SLC3A1. The variant analysed in this test occurs in the Newfoundland. A closely related variant is also found in the Labrador Retriever and in the English and French Bulldogs.

Specifications

Breeds

Newfoundland
Gene

SLC3A1
Chromosome

10
Mutation

c.586C>T
Organ

Urinary system
Specimen

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

Autosomal Recessive

Clinical features

Signs of a developed stone include cystitis (bladder inflammation), hematuria (bloody urine) and painful, frequent, strained urination in small volumes. Cystinuria can be diagnosed by identifying cysteine crystals in urine sediment.

References

Pubmed ID: 11129328

Year published: 2000

Omia ID: 256

Omia variant ID:

Turnaround information

  • 15 working days