Bardet-Biedl Syndrome NGS panel

Genes: ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, IFT27, IFT172, LZTFL1, MKKS, MKS1, SDCCAG, TMEM67, TRIM32, TTC8, WDPCP

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 EUR / 6-9 weeks


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form