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Ehlers-Danlos 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

22

Test / Mutation List

ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, KIF22, PLOD1, SLC39A13, TNXB, ZNF469, PRDM5, SCN9A

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.