Turnaround time
10 workdays
48.4
40
DNA test for the GRHPR splice variant c.507-1G>A causing primary hyperoxaluria II / Oxalosis II in cats.
Overview
This genetic test detects the GRHPR splice variant c.507-1G>A that causes primary hyperoxaluria type II. The condition is also known as PH2, Oxalosis II or GRHPR deficiency. Reduced glyoxylate reductase/hydroxypyruvate reductase activity creates excess oxalate, which can precipitate as calcium oxalate crystals in the kidneys.
Affected kittens often develop kidney and urinary tract problems at a young age. Possible signs include acute renal failure, painful or abnormal kidneys, urinary stones, blood in the urine, weakness, dehydration and sometimes neurological or muscle-related signs.
PH2 is inherited as autosomal recessive: one copy means carrier status, while two copies cause primary hyperoxaluria II.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: Clear
No copy of the tested GRHPR variant c.507-1G>A was detected. This cat will not pass this tested variant to offspring.
Genotype / allele combination: Carrier
This cat carries one copy of the tested GRHPR variant c.507-1G>A. The cat is a carrier and can pass the variant on; targeted mate selection helps prevent affected offspring.
Genotype / allele combination: Affected
This cat has two copies of the tested GRHPR variant c.507-1G>A. This genotype causes primary hyperoxaluria II and the variant will be passed to all offspring.
Sampling and submission guidelines





References