Primary Hyperoxaluria (PH)

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Primary Hyperoxaluria (PH)

Description:

Primary Hyperoxaluria, or PH, is a metabolic disorder that affects the Coton de Tulear dog breed. There is a deficiency of a liver enzyme needed to break down calcium oxalate crystals so that they can be eliminated from a dog's system. As the crystals build up in the body, the dog becomes progressively more and more ill.


An affected pup will show signs of the disorder at three to four weeks of age. This is when the accumulation of calcium oxalate begins to tax the system, especially the kidneys. The crystals can also build up in other areas including joints, bones, eyes, and other tissues. The disease eventually leads to kidney failure and death.

 

PH is an autosomal recessive genetic mutation, so a puppy will have PH only if both parents have the mutation. Carriers will not exhibit symptoms of PH, so DNA testing is useful to identify carriers of the mutation prior to breeding. Without testing before breeding, there is a chance that some puppies could become homozygous for PH and develop symptoms with eventual death.

Acceptable Sample Types:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Complimentary sample collection kits are available and can be ordered at test now.

This Test Is Relevant to For the Following Breeds:

Coton de Tulear

Results:

Animal Genetics offers DNA testing for Primary Hyperoxaluria (PH). The genetic test verifies the presence of the recessive PH mutation and presents results as one of the following:

PH/PH Affected The dog carries two copies of the mutant gene and is homozygous for PH. This dog will be affected and will always pass a copy of the mutated gene to its offspring.
PH/n Carrier Both the normal and mutant copies of the gene detected. Dog is a carrier for the PH mutation and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the gene mutation that causes PH and will not pass on the defective gene to its offspring.