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Cutis laxa: gene panel

Speciality(ies) / Other Speciality(ies)

Dermatology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS

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

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.