Multiple epiphyseal dysplasias: gene panel
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, UFSP2
3 to 4 months
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
For other samples types, please contact the laboratory.