Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel

Genes
(full coding
region):		 ABCB6, ALDH1A3, ASPH, BCOR, B3GLCT, BMP4, CHD7, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, GDF3, GDF6, HCCS, HESX1, HMGB3, LTBP2, MAB21L2, MFRP, OTX2, PAX6, PITX2, PRSS56, RARB, RAX, SIX6, SLC38A8, SMOC1, SOX2, STRA6, TENM3, VAX1, VSX1, VSX2

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