Pyruvate kinase deficiency " "(PK) ""for breed see info

Pyruvate kinase deficiency (PK)

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.
In dogs the anaemia caused by this enzyme deficiency in erythrocytes is always severe. Also associated with the disease is a progressive myelofibrosis and osteosclerosis of unknown aetiology. This is, along with liver failure, the major cause of death in affected dogs. Clinical signs of the disease include exercise intolerance, weakness, heart murmur and splenomegaly.

Breed

Basenjis, Beagle, Cairn Terrier, Labrador, Pug Dog, West Highland White Terriers

Trait of inheritance

autosomal-recessive

Test duration

1-2 weeks 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.

LABOKLIN GmbH und Co.KG
Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546
E-Mail: info@labogen.com

Links

 back to genetic diseases

 back to list for breeds


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