Pyruvate kinase deficiency (PK-deficiency)
Disease
Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response.
The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure.
The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.
Breed
Abyssinian, Bengal, Domestic Longhair, Domestic Shorthair, Egyptian Mau, La Perm, Maine Coon, Norwegian Forest, Ocicat, Savannah, Siberian, Singapura and Somali
Trait of inheritance
Test duration
3-5 days after arrival of the sample in the lab
Material
The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.
Testing procedure
Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.
Questiones?
Please contact our molecular biology team for further questions.
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D-97688 Bad Kissingen
Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546
E-Mail: info@labogen.com
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