Title Image

Blog

Home  /  Pediatrics   /  NGS   /  Bardet-Biedl syndrome: gene panel

Bardet-Biedl syndrome: gene panel

Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

20

Test / Mutation List

ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP

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.