Korat GM2 Gangliosidosis

Quick Summary

Korat GM2 gangliosidosis causes progressive neurologic dysfunction and premature death in Korat cats. Disease progression is more rapid in GM2 than GM1.

Click here for Price and Turnaround Time

Phenotype: Korat GM2 gangliosidosis causes progressive neurologic dysfunction and premature death in Korat cats. Disease onset is observed as early as 4 weeks of age, beginning with fine head tremors, followed rapidly by ataxia, and progresses to death before 8 months of age.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, GM2k = Korat GM2 gangliosidosis

Breeds appropriate for testing: Korat

Explanation of Results:

  • Cats with N/N genotype will not have Korat GM2 gangliosidosis and cannot transmit this GM2 variant to their offspring.
  • Cats with N/GM2k genotype will not have Korat GM2 gangliosidosis, but are carriers. They will transmit this GM2 variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% kittens with Korat GM2 gangliosidosis.
  • Cats with GM2k/GM2k genotype will have Korat GM2 gangliosidosis, a fatal condition.

Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Price

$44 one test per animal
$66 this test + Korat GM1 per animal

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.

Person looking at different brands of cotton swabs in a storePurchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)

 

2.

Label indicating both ends of the two cotton swabsUse both ends of the two cotton swabs for a total of four swabs.

 

3.

Demonstration of swabbing the inner cheek of a cat with a cotton swabCollect the DNA sample by swabbing the cheek and gums of the cat.

 

4.

Cotton swabs taped to bar-coded submission form for VGLAfter swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.

Additional Details

Gangliosidoses are degenerative, fatal neurological diseases caused by abnormal accumulation of lipids known as gangliosides in central and peripheral nervous systems, and nerve cells in particular. Cats affected with gangliosidosis have progressive neurologic dysfunction and premature death. Two forms of gangliosidosis affect Korat cats – GM1 and GM2. Both have a genetic basis and a recessive mode of inheritance. Two copies of the defective gene are needed to cause the disease. Both diseases cause similar progressive neurologic dysfunction, including tremors, ataxia and dysmetria. Disease progression is more rapid in GM2.

Korat GM2 is caused by a mutation in the feline Hexoaminidase β-subunit (HEXB) gene. Disease onset is observed as early as 4 weeks of age, beginning with fine head tremors, followed rapidly by ataxia, and progresses to death before 8 months of age.

Testing for GM1 and GM2 in Korat cats to assists owners and breeders in identifying affected and carrier cats. Breeders can use these tests as a tool to avoid breeding carriers together which would produce 25% affected offspring.

 

Note: This test is specific for the 1 base deletion in the HEXB gene that causes GM2 in Korat cats. It will not detect other HEXB mutations known to exist in other breeds of cats.