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Marfan and Marfan-like syndrome: gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM

Gene Number

9

Test / Mutation List

COL3A1, FBN1, FBN2, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2

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.