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Available DNA Tests for Dogs and Cats

Canine Phosphofructokinase Deficiency (Code: C106)


The enzyme PFK is important in energy matabolism in red blood cells and in skeletal muscle during intense exercise. Canine Phosphofructokinase Deficiency is an inherited disorder that causes premature breakdown (hemolysis) of red blood cells, and a reduced tolerance for exercise. Affected dogs have chronic mild anemia with intermitten bouts of acute hemolysis, often associated with intense exercise, overheating or prolonged barking. Affected dogs have a persistent mild anemia (low level of red blood cells) for which they are generally able to compensate. Intermittently, they will have acute episodes of red blood cell breakdownwhen they become lethargic and weak. This is usually associated with intense exercise or excessive barking or panting. Their mucous membranes (eg. gums) are pale or jaundiced and they usually run a high fever. You may notice the uring is brown due to the excretion of blood breakdown products. At these times, your dog will require veterinary attention.

DNA Test

Based on clinica examination and blood tests, your veterinarian will diagnose hemolytic anemia (low levels of red blood cells due to increased breakdown) in your dog. Further DNA tests will be required to diagnose this specific condition. This DNA test provides the reliable identification of dogs that carry mutant gene(s). The DNA test allows a breeder to control the mutant gene frequency in American Cocker and English Springer Spaniels, thus preventing the production of puppies affected with Canine Phosphofructokinase Deficiency. This DNA test accurately and specifically identifies normal, carriers (heterozygous) and affected dogs.

Cocker Spaniel
English Springer Spaniel
$48 US
$48 CDN (subject to HST - Canadian residents only)
HealthGene will provide a certificate for each test result.
The following sample(s) can be submitted for the testing:
1. Blood sample in a lavender (EDTA) tube.
2. Cheek swabs.
Test results are usually available in 10 business days from the moment the samples arrive at the laboratory. Test results can be reported by e-mail, fax, or by phone.