Dr. van Haeringen Laboratorium B.V.

H471 X-linked hypohidrotic ectodermal dysplasia

Background

X-linked ectodermal dysplasia (XLHED) belongs to the ectodermal dysplasias (ED), which are a group of genetically heterogenous diseases. This skin condition is characterized by absent or abnormal teeth, hypotrichosis, absent sweat glands and symmetrical hairlessness. Affected animals are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharges are common. In a family of shorthaired standard Dachshunds, a very recent de-novo 1-basepair deletion in the ectodysplasin-A (EDA) gene was identified as cause of the disease.

Test specific information

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Age

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.

Breed dependence

This DNA test is available for the following breeds: Short-Haired Dachshund. 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, Semen, Tissue, Swab. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

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.

Inheritance

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

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Code H471

X-linked hypohidrotic ectodermal dysplasia

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