Cutis laxa: gene panel
Speciality(ies) / Other Speciality(ies)
Dermatology
Pediatrics Cardiology, Internal Medicine, Reumatology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
15
Test / Mutation List
ALDH18A1, ATP6V0A2, ATP7A, C1R, COL11A1, EFEMP2, ELN, FBLN5, FLNA, GORAB, LTBP4, PLAC8, PTDSS1, PYCR1, RIN2
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.