L-2-Hydroxyglutaric Aciduria | Animal Genetics

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L-2-Hydroxyglutaric Aciduria

Description:

Hydroxyglutaric Aciduria or L-2-HGA is a recessive disorder that affects the central nervous system of the dog. Clinical signs usually appear between 6 months and one year (although they can appear later). Symptoms of the disease include some or all of the following, epileptic seizures, "wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement.

 

The disorder presents its self in an autosomal recessive mode of inheritance. This means that two copies of the defective gene (one coming from each parent) have to be present for a dog to be affected by the disease. Dogs with only a single copy of the defective gene and one normal copy of the gene are called carriers. Carriers are not symptomatic and will not develope the disease however, can pass the defective gene onto their offspring. When two healthy carriers are mated, on average 25% of the offspring will be affected by the disease, 50% will be carriers and 25% will be clear.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.

Test Is Relevant to the Following Breeds:

Staffordshire Bull Terrier

Results:

Animal Genetics offers DNA testing for L-2-Hydroxyglutaric Aciduria. The genetic test verifies the presence of the recessive L-2-HGA mutation and presents results as one of the following:

HGA/HGA Affected The dog carries two copies of the mutant gene and is homozygous for L-2-Hydroxyglutaric Aciduria. The dog is affected by L-2-Hydroxyglutaric Aciduria and will always pass a copy of the mutation to its offspring.
HGA/n Carrier Both the normal and mutant copies of the gene detected. Dog is a carrier for the L-2-Hydroxyglutaric Aciduria mutation and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the L-2-Hydroxyglutaric Aciduria mutation and will not pass on the defective gene to its offspring.