S308 Epidermolysis bullossa, junctionalis

Background

Herlitz-type Junctional Epidermolysis Bullosa (HJEB) is a severe and ultimately lethal tissue disorder found in the German Black Headed Mutton sheep. The disease is caused by a recessive mutation to the gene LAMC2.

Test specific information

Onset of HJEB symptoms starts within the first few weeks of life. Affected lambs show kyphosis (arching of the back) and severe lameness; fragile and easily-detaching skin, horns and hooves; and sores in the mouth and on the tongue. Symptoms progressively worsen, and euthanasia is generally necessary.

Age

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

Breed dependence

This DNA test is available for the following breeds: German Blackheaded Mutton. 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, Genotek Swab. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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Code S308

Epidermolysis bullossa, junctionalis

€ 41,35 (excl. VAT)