Quick Summary
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Phenotype: Burmese head defect (BHD), or congenital frontonasal dysplasia, is characterized by improper development and subsequent malformation of the skull and facial features. Kittens with BHD may be stillborn or born live, but kittens born live cannot survive for long and require euthanasia.
Mode of Inheritance: Autosomal co-dominant
Alleles: N = Normal/Unaffected, BHD= Burmese head defect
Breeds appropriate for testing: Australian Mist, Bombay, Burmese, Burmilla, European Burmese, Tonkinese
Explanation of Results:
- Cats with N/N genoytpe will not have Burmese head defect and cannot transmit this BHD variant to any of their offspring.
- Cats with N/BHD genotype may have shortened facial structure (brachycephaly), but will not have Burmese head defect. They will transmit this BHD variant to 50% of their offspring. Matings between two N/BHD genotype cats are predicted to produce 25% kittens with Burmese head defect.
- Cats with BHD/BHD genotype will have Burmese head defect, a severe craniofacial defect that is incompatible with life.
$44 one test per 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 Hypokalemia
- GM2 Gangliosidosis in Burmese
- 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.
The Burmese head defect mutation is common in the Contemporary lines of Burmese from the United States. A 12 bp deletion (c. 496delCTCTCAGGACTG) in the aristaless-like homobox protein 1 (ALX1) that causes a congenital craniofacial defect in Burmese cats was discovered by the Lyons Feline Genetics Research Laboratory at University of California, Davis. ALX1 mutations are known to result in frontonasal dysplasia in humans.
One copy of the mutation does not cause the craniofacial defect but may produce a shortened facial structure (brachycephaly). Cats with two copies of the mutation have the severe craniofacial defect that is incompatible with life. 5.9% of Burmese and related breeds carry the mutation. This mutation was not found in other breeds exhibiting brachycephaly.
Testing for Burmese head defect can assist 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.
