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
The genetic factor is continuously present, and will always be visible.
The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.
The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.
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.
This DNA test is available for the following breeds: American Cocker Spaniel, Brittany Spaniel, Cavalier King Charles Spaniel, Clumber Spaniel, Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Sussex Spaniel, Tibet Spaniel, Whippet. Additional information is available in the Frequently Asked Questions (FAQ).
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.
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.
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