Syndromic obesity: gene panel
Speciality(ies) / Other Speciality(ies)
Endocrinology
Metabolic Diseases
Methodology
NGS, with CNVs analysis
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
2 to 3 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.