Skeletal Ciliopathies NGS panel

Genes
(full
coding
region):		 CEP120, COMP, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, FGFR3, IFT43, IFT122, IFT52, IFT80, IFT140, IFT172, KIAA0586, NEK1, TCTEX1D2, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

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

4 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