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Syndromic obesity: gene panel

Speciality(ies) / Other Speciality(ies)

Endocrinology

Metabolic Diseases

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

20

Test / Mutation List

BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS9,CEP290,GNAS,MAGEL2,MKKS,MKS1,NTRK2,PHF6, SDCCAG8, SIM1, TRIM32, TTC8, VPS13B, 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.