Marfan and Marfan-like syndrome: gene panel
Speciality(ies) / Other Speciality(ies)
Cardiology
Pediatrics Cardiology, Internal Medicine, Reumatology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
9
Test / Mutation List
COL3A1, FBN1, FBN2, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
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.