Turnaround time
10 workdays
48.4
40
Genetic test for the PKLR c.994G>A variant that causes pyruvate kinase deficiency / PKDef in the Beagle.
Overview
This genetic test analyses the PKLR c.994G>A variant in the Beagle. The condition is known as pyruvate kinase deficiency, PKDef, PKD, PK deficiency and erythrocyte pyruvate kinase deficiency. The result shows whether the dog carries zero, one or two copies of the tested variant.
PKLR encodes pyruvate kinase in red blood cells. This enzyme is needed for energy production through glycolysis. When both gene copies carry the tested variant, red blood cells cannot maintain normal energy balance and are destroyed too quickly.
PKDef causes severe regenerative haemolytic anaemia. Affected dogs can develop pale mucous membranes, fatigue, exercise intolerance, intermittent weakness, enlarged spleen or liver and episodes of marked anaemia.
Progressive bone changes such as osteosclerosis, myelofibrosis, iron overload and liver problems have also been described. This makes the test relevant for breeding decisions and for interpreting unexplained weakness, poor stamina or anaemia in susceptible lines.
The trait is inherited in an autosomal recessive way. A clear dog does not carry the variant. A carrier has one copy and is usually not affected, but can pass the variant to offspring. A dog with two copies has the genotype that causes PKDef.
This test is important for breeders because carriers can look healthy. The result makes it possible to identify carriers, plan matings safely and avoid carrier-to-carrier combinations that can produce puppies with pyruvate kinase deficiency.
The test also supports strategic breed health management. In smaller or strongly selected populations, DNA results help use healthy carriers responsibly without silently spreading the variant or unnecessarily losing genetic diversity.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Sampling and submission guidelines
References
