Pyruvate kinase deficiency (PKLR: c.994G>A)

€49.85
Test code: DOG-PKDEFB
Analysis timeframe: 10 working days
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Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Transmission

Autosomal recessive

Breed

Beagle

Gene

PKLR: c.994G>A