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COVID 19 UPDATE - our AUS and US offices & genetic testing laboratories remain open.We realise that things are changing quickly, but we remain operating as usual.We will keep up you updated even as other restrictions to different services are introduced.

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2,8-Dihydroxyadenine Urolithiasis Type IA

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Test Overview:

Adenine phosphoribosyltransferase (APRT) is an enzyme involved in the purine salvage pathway, where it catalyzes the conversion of adenine and 5-phosphoribosyl-1-pyrophosphate to adenosine monophosphate [1]. In the absence of APRT, xanthine dehydrogenase (XDH) converts adenine into 2,8-dihydroxyadenine (2,8-DHA), a compound that is highly insoluble in urine. Acute kidney injury may occur from urinary tract obstruction by calculi, and chronic kidney disease is a common sequela caused by crystalline nephropathy. The age of onset varies, with many affected individuals remaining asymptomatic until adulthood.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

Adenine phosphoribosyltransferase (APRT) on chromosome 5

Variant Detected:

Base Substitution c.260G>A p.Arg87Gln

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Furrow et al. Mol Genet Metab, An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. (2014) 111;3, 399–403

Associated Breed(s):

Mixed Breed, Native American Indian Dog,