Skeletal Ciliopathies NGS panel

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