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

Turnaround time

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.

PLEASE NOTE
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

Breed dependence

This DNA test is available for the following breeds: . 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. MwSt.)