The Androgen Insensitivity Syndrome (AIS) is a disorder of sexual development (DSD) and was formerly known as Testicular Feminisation Syndrome. Affected individuals show a female phenotype despite a male genotype. This is due to a loss of function of the X-linked androgen receptor (AR) which normally is responsible for masculinization and formation of secondary sexual characteristics during development. In a family of Warmblood horses, showing the typical clinical features of AIS, a deletion in the AR gene was identified as causative mutation for the disease.
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 is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
This DNA test is available for the following breeds: Warmblood. Additional information is available in the Frequently Asked Questions (FAQ).
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Hair, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.
The following results are possible for a female: the mode of inheritance is based on recessive or dominant patterns.
The following results are possible for a male:
- A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation.
- A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.
The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous).
Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected.
Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.
Severity of Disease