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H717 PFK (Phosphofructokinase Deficiency)

Background

Muscle type phosphofructokinase deficiency (PFK) is an inherited glycogen storage disease. It is caused by a mutation, which leads to a lack of phosphofructokinase subunits or activity. Without the PFK enzyme muscle cells and erythrocytes are not able to produce enough adequate energy for their needs. Therefore affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure and is caused by the destruction of the erythrocytes.

Test specific information

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Age

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

Throughput

Normally the result can be expected within 10 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.

Breed dependence

This DNA test is available for the following breeds: Cavalier King Charles Spaniel, Cocker Spaniel, Tibet Spaniel, English Cocker Spaniel, English Springer Spaniel, Brittany Spaniel, American Cocker Spaniel , Clumber Spaniel, Sussex Spaniel, Whippet. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Semen, Tissue. 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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Dog

PFK (Phosphofructokinase Deficiency)

Code H717
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
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