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H741

Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the Labrador Retriever; related variants are also found in the Basenji, West Highland White Terrier, Pug and Beagle.

Clinical features

Affected dogs present with severe chronic anaemia, which can include fatigue, exercise intolerance, pallor and episodes of severe weakness. Symptoms can also include abnormal hardening/solidifying of the bones (osteosclerosis).

Additional information

Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity.

References

Pubmed ID: 22805166

Omia ID: 844

How does it work?

1. Select your product(s)

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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