Phosphofructokinase (PFK) Test:

For: English Springer Spaniels & Cocker Spaniel (American)s

Please note cheek swabs are not accepted for this test.

Phosphofructokinase (PFK) is an enzyme that is crucial for production of energy from sugar sources in all cells of the body, especially red blood cells and muscle cells. Lack of this enzyme causes a range of effects: weakness and muscle cramps, discolored urine, anemia and jaundice. In Spaniels, this disease is inherited as an autosomal recessive condition.

Study of the PFK gene in normal and affected dogs revealed the specific mutation causing this disease. A DNA-based genetic test uses this information to identify dogs that are affected, carrier or normal.

PFK deficiency disease remains a common problem for English Springer Spaniels. Despite the availability of genetic testing for this disease, the carrier frequency in this breed is estimated to be approximately 2%.

Expected results of breeding strategies using OptiGen mutation tests for inherited recessive diseases
Parent 1 Genotype	Parent 2 Genotype
Parent 1 Genotype	Normal	Carrier	Affected
Normal	All = Normal	1/2 = Normal 1/2 = Carriers	All = Carriers
Carrier	1/2 = Normal 1/2 = Carriers	1/4 = Normal 1/2 = Carriers 1/4 = Affected	1/2 = Carriers 1/2 = Affected
Affected	All = Carriers	1/2 = Carriers 1/2 = Affected	All = Affected
For information on recessive genetic diseases and the expected results for various breeding strategies, please go to the OptiGen “Glossary” link and read about “autosome” and “recessive”. The “recessive” table shows the expected results from breeding dogs of each genetic status. It is important never to breed two carrier dogs, because on average 25% of the pups could be affected. One parent should always be clear/normal for the disease.

Please follow the instructions at the link "Ship Sample" and submit the information at "Request Test".

References:

Smith BF et al. Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency. Journal of Biological Chemistry 271 (33): 20070-20074, 1996.

Giger U et al. Inherited Phosphofructokinase Deficiency in a Cocker Spaniel (American). Journal American Veterinary Medical Association 201 (10): 1569-1571, 1992.

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