List of diseases covered by
Epidermolysis Bullosa NGS panel

Gene Condition
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness
CDSN Hypotrichosis 2; Peeling skin syndrome 1
CHST8 Peeling skin syndrome 3
COL7A1 Epidermolysis bullosa dystrophica, AD;
Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa;
Epidermolysis bullosa, pretibial; Toenail dystrophy, isolated;
Transient bullous of the newborn; EBD, Bart type
COL17A1 Epidermolysis bullosa, junctional, localisata variant;
Epithelial recurrent erosion dystrophy
DSG1 Erythroderma, congenital, with palmoplantar keratoderma,
hypotrichosis, and hyper IgE; Keratosis palmoplantaris striata I, AD
DSP Epidermolysis bullosa, lethal acantholytic;
Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome;
Cardiomyopathy, dilated, with woolly hair and keratoderma;
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
DST Epidermolysis bullosa simplex, autosomal recessive 2
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
FERMT1 Kindler syndrome
ITGA3 Interstitial lung disease, nephrotic syndrome,
and epidermolysis bullosa, congenital
ITGB4 Epidermolysis bullosa of hands and feet;
Epidermolysis bullosa, junctional, non-Herlitz type;
Epidermolysis bullosa, junctional, with pyloric atresia
ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis
JUP Naxos disease
KRT1 Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III; Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic
KRT5 Dowling-Degos disease 1;
Epidermolysis bullosa simplex, Dowling-Meara type;
Epidermolysis bullosa simplex, Koebner type;
Epidermolysis bullosa simplex, recessive 1;
Epidermolysis bullosa simplex, Weber-Cockayne type;
Epidermolysis bullosa simplex-MCR; Epidermolysis bullosa simplex-MP
KRT14 Dermatopathia pigmentosa reticularis;
Epidermolysis bullosa simplex, Dowling-Meara type;
Epidermolysis bullosa simplex, Koebner type;
Epidermolysis bullosa simplex, recessive 1;
Epidermolysis bullosa simplex, Weber-Cockayne type;
Naegeli-Franceschetti-Jadassohn syndrome
LAMA3 Epidermolysis bullosa, generalized atrophic benign;
Epidermolysis bullosa, junctional, Herlitz type;
Laryngoonychocutaneous syndrome
LAMB3 Epidermolysis bullosa, junctional, Herlitz type;
Epidermolysis bullosa, junctional, non-Herlitz type;
Amelogenesis imperfecta, type IA
LAMC2 Epidermolysis bullosa, junctional, Herlitz type;
Epidermolysis bullosa, junctional, non-Herlitz type
MMP1 Epidermolysis bullosa dystrophica,
autosomal recessive, modifier of
PLEC Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
PKP1 Ectodermal dysplasia/skin fragility syndrome
TGM5 Peeling skin syndrome 2