Bardet-Biedl syndrome (BBS) is an autosomal recessive multi-systemic ciliopathy characterized by retinal dystrophy, obesity, postaxial polydactyly, learning difficulties, renal involvement and genitourinary abnormalities. Visual prognosis is poor, and the mean age of legal blindness is 15.5 years. Birth weight is typically normal but significant weight gain beigns within the first year. Renal disease is a major cause of morbidity and mortality. There is considerable interfamilial and intrafamilial variability in the clinical presentation.
Our Bardet Biedl Syndrome Panel includes sequence analysis of the following 16 genes: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, WDPCP, SDCCAG8.
Any gene in the Bardet Biedl Syndrome Panel can also be ordered individually. Please contact us directly for cost and CPT code information.