Limb-girdle muscular dystrophies: gene panel
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
ANO5, BVES, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, ISPD, HNRNPDL, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
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.