Brachycephaly (Frontonasal Dysplasia (FND)) is a heterogeneous group of disorders affecting face and skull development. In the Burmese cat breed, a severe form of the disease is present. The defect is inherited as an autosomal recessive trait, whereat the heterozygous carriers show a mild brachycephaly. This phenotype is highly popular and called Contemporary Burmese. Affected cats however must be euthanised because of severe malformations. The causal mutation for the disease was identified in the Aristaless-Like Homeobox 1 (ALX1) gene.
Test specific information
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.
The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.
Location of disease or trait
This disease affects the formation of bone as well as the skeletal development.
This DNA test is available for the following breeds: Burmese. Additional information is available in the Frequently Asked Questions (FAQ).
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.
An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.
An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
This genetic factor is inherited in an autosomal, dominant, mode. This means, that the individual can be free of the mutation (homozygote normal), affected (homozygous affected) or carrier (heterozygous affected). Both carriers and affected individuals will show symptoms of the mutation.
Severity of Disease