Dr. van Haeringen Laboratorium B.V.

H740 Pyruvate Dehydrogenase Phosphatase 1 (PDP1)

Background

Exercise intolerance syndromes are well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation. A canine model was used to identify a deficit in PDP1, the phosphatase enzyme that activates the pyruvate dehydrogenase complex. Homozygosity produces severe exercise intolerance. Skeletal muscle myopathy is a hereditary muscle disorder in which there is a deficiency of muscle fibers leading to a notable decrease in skeletal muscle mass.

Test specific information

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Age

The genetic factor is continuously present, and will always be visible.

Turn Around Time

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10 working days. A longer delivery time applies to tests carried out by a Partner Lab.

Location of disease or trait

The disease is present in muscle. Depending on the effect, degeneration of muscle may take place. Alternatively, recovery following exercise may be deteriorated.

Breed dependence

This DNA test is available for the following breeds: Clumber Spaniel, Sussex Spaniel. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Swab, Semen, Tissue, Blood Heparin. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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Code H740

Pyruvate Dehydrogenase Phosphatase 1 (PDP1)

€ 47,80 (Incl. 21% VAT)
€ 39,50 (Excl. VAT)
Quantity