Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1 deficiency)

Disease

The pyruvate dehydrogenase phosphatase deficiency affects a gene of the Pyruvate dehydrogenase complex, a critical enzyme complex which is important for production of energy in the cell. The enzyme pyruvate dehydrogenase phosphatase is necessary for reactivating the enzyme complex.
The disease is characterised by exercise intolerance and post-exercise collapse. There may also be neurological symptoms.

Breed

Clumber and Sussex Spaniel

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

Tel. 0971 /72020 oder Fax: 0971 / 7202995
Email: labogen""laboklin.de

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