Deutsch
IllnessEpidermolysis bullosa, junctional; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Epidermolysis bullosa junctionalis comprising 7 guideline-curated genes according to the clinical signs
ID
EP7769
Number of genes
7
Accredited laboratory test
Examined sequence length
28,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
In skin + mucous membranes, defined by forming blister lesions between epidermis + dermis at the lamina lucida level of the cutaneous basement membrane zone, healing lesions with atrophy and/or exuberant granulation tissue formation
Synonyms
- Allelic: Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
- Allelic: Laryngoonychocutaneous syndrome (LAMA3)
- Epidermolysis bullosa of hands and feet (ITGB4)
- Epidermolysis bullosa, generalized atrophic benign (LAMA3)
- Epidermolysis bullosa, junctional, Herlitz type (LAMA3)
- Epidermolysis bullosa, junctional, Herlitz type (LAMB3)
- Epidermolysis bullosa, junctional, Herlitz type (LAMC2)
- Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
- Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
- Epidermolysis bullosa, junctional, non-Herlitz type (LAMB3)
- Epidermolysis bullosa, junctional, non-Herlitz type (LAMC2)
- Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
- Epidermolysis bullosa, junctional, with pyloric stenosis (ITGA6)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined