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Palmoplantar keratoderma: gene panel

Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

25

Test / Mutation List

AAGAB, AQP5, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT6A, KRT6B, KRT6C, KRT9, KRT14, KRT16, KRT17, LOR, MBTPS2, PKP1, SERPINB7, SLURP1, TRPV3, WNT10A

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.