Joubert Syndrome NGS panel

Genes: AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CEP104, CSPP1, INPP5E, KIF7, KIAA0556, KIAA0586, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM67, TMEM237, TTC21B, ZNF423

List of diseases covered by the panel

Price / TAT: NGS: 1300 EUR / 6-9 weeks

NGS with CNV: 1700 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