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Epidermolysis bullosa: gene panel

Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

14

Test / Mutation List

COL17A1, COL7A1, DSP, EXPH5, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5

TAT

3 to 4 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.