Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel

(full coding
ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

List of diseases covered by the panel

Lab method: NGS panel with CNV analysis

TAT: 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

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation