EPIDERMOLYSIS BULLOSA SIMPLEX - KRT5 - SEQUENCING

New Test in NOÛS Catalog

Test Code: 7867

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	32 days
Information:
More than 100 mutations in the KRT5 gene have been identified in persons with Epidermolysis Bullosa Simplex, a condition that causes the skin to be very fragile. The most severe form of epidermolysis bullosa simplex, the Dowling-Meara type, is usually a result of changes in the regions of the keratin 5 which is essential for the normal assembly of the intermediate filaments of keratin. The mildest forms of the disease, including the localised type (formerly called the Weber-Cockayne type) and a form known as the other generalised type (formerly called the Koebner type), are often caused by the changes that affect the least critical regions of the protein. Another form of the disease called epidermolysis bullosa simplex with mottled pigmentation typically results from a particular KRT5 mutation. This mutation replaces the amino acid proline with the amino acid leucine in the protein position 25 (written as Pro25Leu or P25L).

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