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Dog DNA testing illustration

Pyruvate Kinase Deficiency (PKDef) – Labrador Retriever

Code: H741

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

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.

Specifications

Breeds

Labrador Retriever
Gene

PKLR
Chromosome

7
Mutation

c.799C>T
Organ

Cardiovascular System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

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

Year published: 2012

Omia ID: 844

Omia variant ID:

Turnaround information

  • 15 working days