€57,48 €47,50 hors TVA
Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development.
10 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
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
Les porteurs n’ont aucun signe clinique, mais ont des niveaux demi-normaux d’activité de pyruvate kinase d’érythrocyte.
Références
Pubmed ID: 22805166
Omia ID: 844