Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero.
Test specific information
The genetic factor is continuously present, and will always be 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 mainly affects the skin.
For this test samples from all breeds are accepted.
For this DNA test we accept the following materials: Semen, Tissue, Blood EDTA, Blood Heparin, Hair. 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