Pyruvate Kinase Deficiency (PKDef) – Labrador Retriever
Kodas: H741
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 | |
|---|---|
| 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
- 10 working days