Dr. van Haeringen Laboratorium B.V.

K608 Brachycephaly (Frontonasal Dysplasia (FND))


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.

Turn Around Time

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10 working days. A longer delivery time applies to tests carried out by a Partner Lab.

Location of disease or trait

This disease affects the formation of bone as well as the skeletal development.

Breed dependence

This DNA test is available for the following breeds: Burmese. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

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


Code K608

Brachycephaly (Frontonasal Dysplasia (FND))

€ 47,80 (Incl. 21% VAT)
€ 39,50 (Excl. VAT)