Pachyonychia congenita: gene panel
Speciality(ies) / Other Speciality(ies)
Dermatology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
8
Test / Mutation List
AAGAB, GJB6, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3
TAT
2 to 3 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.