Epidermolysis Bullosa Precision Panel
Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma.

Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma. Although clinically and genetically very heterogeneous, it has been classified into four main types according to the layer of the skin in which blistering occurs: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. The clinical heterogeneity results from the different distribution of the blisters, severity of cutaneous lesions and extracutaneous signs. Onset of symptoms usually occurs at birth or shortly after and is transmitted both in an autosomal dominant and recessive pattern.
The Igenomix Epidermolysis Bullosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blisters ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ATP2C1 | Familial Benign | AD | 99.95 | 210 of 210 |
CD151 | Nephropathy With | AR | 100 | 3 of 3 |
CDSN | Hypotrichosis, | AD,AR | 99.88 | 12 of 13 |
CHST8 | Peeling Skin | AR | 100 | 1 of 1 |
COL17A1 | Junctional Epidermolysis | AD,AR | 100 | 117 of 117 |
COL7A1 | Autosomal Dominant | AD,AR | 100 | 861 of 863 |
CSTA | Autosomal Recessive Exfoliative | AR | 100 | 5 of 5 |
DSG1 | Congenital Erythroderma With | AD,AR | 99.89 | 42 of 42 |
DSG2 | Arrhythmogenic | AD | 99.38 | 167 of 169 |
DSG4 | Hypotrichosis Simplex | AR | 99.97 | 17 of 17 |
DSP | Arrhythmogenic Right | AD,AR | 99.91 | 366 of 369 |
DST | Autosomal Recessive | AR | 99.08 | 19 of 19 |
EXPH5 | Autosomal Recessive | AR | 98.34 | 9 of 10 |
FERMT1 | Kindler Syndrome | AR | 99.83 | 78 of 81 |
FLG2 | Peeling Skin | AR | 99.95 | 4 of 4 |
GRIP1 | Fraser Syndrome | AR | 100 | 17 of 17 |
ITGA3 | Interstitial Lung Disease, | AR | 99.2 | 11 of 11 |
ITGA6 | Epidermolysis Bullosa | AR | 100 | 10 of 10 |
ITGB4 | Epidermolysis Bullosa | AD,AR | 99.12 | 115 of 115 |
JUP | Naxos Diseas , | AD,AR | 100 | 56 of 56 |
KLHL24 | Epidermolysis Bullosa | AD | 99.96 | 8 of 8 |
KRT1 | Bullous Erythroderma | AD,AR | 100 | 67 of 67 |
KRT10 | Bullous Erythroderma | AD,AR | 98.32 | 69 of 76 |
KRT14 | Dermatopathia Pigmentosa | AD,AR | 100 | 132 of 132 |
KRT5 | Dowling-Degos Disease, | AD,AR | 99.99 | 165 of 165 |
LAMA3 | Junctional Epidermolysis Bullosa | AR | 97.94 | 66 of 66 |
LAMB3 | Amelogenesis Imperfecta, | AD,AR | 99.99 | 119 of 120 |
LAMC2 | Junctional Epidermolysis | AR | 100 | 41 of 41 |
MMP1 | Autosomal Recessive | AR | 100 | 4 of 4 |
PKP1 | Ectodermal Dysplasia/Skin | AR | 100 | 18 of 18 |
PLEC | Epidermolysis Bullosa | AD,AR | 99.98 | 113 of 113 |
SERPINB8 | Peeling Skin | AR | 99.87 | 3 of 3 |
TGM5 | Acral Peeling Skin | AR | 100 | 26 of 26 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008