Epidermolysis bullosa (EB) is a group of rare genetic disorders characterised by a marked fragility of the skin and mucous membranes. This condition causes blisters and skin lesions to form even after minimal trauma or rubbing. There are several forms of epidermolysis bullosa, which differ in the severity of symptoms and the areas of the body affected, as well as depending on the type of genetic alteration involved. The main forms of epidermolysis bullosa include simple epidermolysis, which is the most common and generally the least severe form, in which blisters form at the level of the epidermis; junctional epidermolysis, which affects the connection between the epidermis and the dermis, often resulting in deeper and more severe blisters; and dystrophic epidermolysis, characterised by blisters that form deeper, at the level of the dermis, and can lead to complications such as scarring and deformities.

20 genes

USA: 1/215,000

Multigenic panel aimed at the diagnosis of epidermolysis bullosa.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

..