About Bardet-Biedl syndrome
Bardet-Biedl syndrome exhibits autosomal recessive pattern of inheritance. It is a multi-organ congenital disorder that is primarily characterized by gradual vision loss, obesity and polydactyly. In some cases it also causes intellectual impairment and genital abnormalities. Its prevalence is between 1:140,000 and 1:160,000.
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP19, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
Non-coding regions included: CEP290 c.2991+1655A>G
A detailed genetic report that includes the genetic variants identified and genetic counseling will be provided. Supporting information will be exhaustive based on bibliographical studies and database analyses and, especially, on our 25 years of experience researching the genetics of hereditary eye diseases.
The test will be performed once payment is made and the signed informed consent and the sample are received. The report will be delivered 12 to 14 weeks after the above conditions are satisfied.
The diagnostic strategy relies on the automated sequencing of DNA on Illumina HiSeq 2000 sequencers that are specially designed for this kind of high-performance analysis. Our panels have been designed to prioritize the genomic regions associated with the hereditary eye diseases indicated in this text.
The likely pathogenic nucleotide variants are verified using Sanger sequencing. We check that their frequency in the control population is below 1% and that they meet the pathogenicity predictions as per established bioinformatics algorithms (SIFT, LRT, MutationTaster, PolyPhen2, CADD and NetGene2).