Bardet-Biedl syndrome: gene panel
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
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.