Ehlers-Danlos syndrome: gene panel
Speciality(ies) / Other Speciality(ies)
Cardiology
Pediatrics Cardiology, Internal Medicine, Reumatology
Test / Mutation List
ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, KIF22, PLOD1, PRDM5, SCN9A, SLC39A13, THBS2, TNXB, ZNF469
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.