Reticulate pigmentary dermatoses: gene panel
Speciality(ies) / Other Speciality(ies)
Dermatology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
17
Test / Mutation List
ABCB6, ADAM10, ADAR, CTC1, DKC1, KRT14, KRT5, NHP2, NOP10, POFUT1, POGLUT1, POLA1, SASH1, TERC, TERT, TINF2, WRAP53
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.