Quick Summary
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Phenotype: GM2 gangliosidosis is characterized by severe muscle tremors and loss of motor control. The inherited condition in affected kittens is first observed at 6-8 weeks of age beginning with mild tremors and leading to difficulty eating and lack of coordination.
Mode of Inheritance: Autosomal recessive
Alleles: = Normal/Unaffected, GM2 = GM2 gangliosidosis
Breeds appropriate for testing: Burmese, European Burmese
Explanation of Results:
- Cats with N/N genoytpe will not have Burmese GM2 gangliosidosis and cannot transmit this GM2 gangliosidosis variant to their offspring.
- Cats with N/GM2 genotype will not have Burmese GM2 gangliosidosis, but are carriers. They will transmit this GM2 gangliosidosis variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% Burmese GM2 gangliosidosis-affected kittens.
- Cats with GM2/GM2 genotype will have Burmese GM2 gangliosidosis, a progressive neurological condition.
$44 one test per individual animal
Also available as part of the following packages:
$66 this test + one test from list below
$88 this test + two tests from list below
$110 this test + all tests from list below
- Burmese Head Defect
- Burmese Hypokalemia
- Polycystic Kidney Disease (PKD1) (recommended for Burmilla breed)
Sample Collection:
Cat DNA tests are carried out using cells collected from your cat's cheeks and gums using household cotton swabs.
The cat DNA submission form with instructions, pricing, and a place to tape the cotton swabs can be printed from your home computer after signing up for a MyVGL account and placing an order. Test kits are not mailed.
Step-By-Step Instructions:
1.
Purchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)
2.
Use both ends of the two cotton swabs for a total of four swabs.
3.
Collect the DNA sample by swabbing the cheek and gums of the cat.
4.
After swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.
GM2 gangliosidosis is a degenerative, fatal neurological disease characterized by severe muscle tremors and loss of motor control. In Burmese cats, the disease is caused by a mutation that perturbs a neuron's ability to remove metabolic waste products from the cell. The accumulation of waste products results in permanent damage. The inherited condition in affected kittens is first observed at 6-8 weeks of age beginning with mild tremors and leading to difficulty eating and lack of coordination. Symptoms are more evident when the kitten has movement with intent as opposed to tremors at rest. Owners may elect for humane euthanasia as the disease is progressive, often culminating in an inability to walk or eat.
GM2 gangliosidosis is inherited as an autosomal recessive disorder and is caused by a 15 base pair deletion in the HEXB gene (chrA1:1415771029del15) which results in aberrant splicing and the production of a non-functional protein. This mutation has been detected in European Burmese cats in at least five countries, including the United States. At the time of publishing, researchers found the carrier frequency for GM2 gangliosidosis to be 14.5% among tested Burmese cats.
