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Dog DNA testing illustration

Pyruvate Kinase Deficiency (PKDef) – West Highland White Terrier

Code: H971

74,72 €

Sample details

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

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Short description

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

General information

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 West Highland White Terrier and Cairn Terrier. Related variants are also found in the Basenji, Labrador Retriever, Pug and Beagle.

Specifications

Breeds

Cairn Terrier, West Highland White Terrier
Gene

PKLR
Chromosome

7
Mutation

c.1333_1338dup
Organ

Cardiovascular System
Specimen

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

Autosomal Recessive

Clinical features

Affected dogs suffer from intermittent weakness and regenerative anaemia. This anaemia can result in secondary symptoms such as pale mucous membranes, heart murmurs and an enlarged spleen.

Additional information

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

References

Pubmed ID: 10490091

Year published: 1999

Omia ID: 844

Omia variant ID:

Turnaround information

  • 15 working days