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CODE: C106
INTRODUCTION:
HEALTHGENE LABORATORY IS APPROVED BY THE ORTHOPEDIC FOUNDATION FOR ANIMALS (OFFA) FOR CANINE PHOSPHOFRUCTOKINASE
DEFICIENCY.
DESCRIPTION
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.
INHERITANCE
Canine Phosphofructokinase Deficiency shows an autosomal recessive mode of inheritance; therefore, two copies of the
defective gene, one inherited from each parent, have to be present for a dog to be affected by the disease. Carriers
(dogs with one copy of the mutant gene and one copy of the normal gene) have about one half normal enzyme activity in
red blood cells and muscle tissue, and are clinically unaffected but can pass the defective gene onto their offspring.
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.
BREEDS:
Cocker Spaniel
English Springer Spaniel
TEST RESULTS:
| Result |
Interpretation |
| Normal |
Homozygous for normal gene, will never develop the disease |
| Carrier |
Carries one mutant gene, but will never develop the disease |
| Affected |
Homozygous for disease gene and will develop the disease |
SAMPLES:
Two types of samples can be submitted for this DNA test:
- A blood sample in a lavender (EDTA) tube;
- Cheek swabs - Order a Sample Collection Kit!
PRICE:
- $85.00 *
Special contract prices are available for Breeder Clubs. Please contact us for more information.
* - subject to the applicable taxes (5% GST Canadian Residents only)
CERTIFICATION OF RESULTS:
HealthGene will provide a certificate for each test result.
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