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Bardet-Biedl Syndrome Panel

Bardet-Biedl syndrome is a congenital multi-organ disorder characterized primarily by progressive vision loss, obesity, and polydactyly. In some cases it also causes alterations in intellectual development and abnormalities in the genitals. It is inherited following an autosomal recessive pattern. Its population frequency ranges between 1: 140,000/160,000 individuals. The DBGen Bardet-Biedl Syndrome Panel includes the study of the coding regions of 28 genes and 3 deep intronic mutations.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Bardet-Biedl Syndrome


Panel type and genes analyzed


SMALL

NGS sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

ALMS1, ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8ORF37, CEP19, CEP290, CPE, FBN3, IFT27, IFT172, LZTFL1, MKKS, MKS1, PNPLA6, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

NGS sequencing of reported mutations in non-coding regions:

BBS1 c.951+58C>T; BBS5 c.619-27T>G; CEP290 c.2991+1655A>G

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