Corneal Dystrophy NGS panel

Genes
(full coding
region):		 CHST6, COL5A1, COL17A1, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT12, LOXHD1, PIKFYVE, PRDM5, SLC4A11, SOD1, ZEB1, ZNF469, TACSTD2, TGFBI, UBIAD1, VSX1

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

Corneal dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to a buildup of cloudy material. Most cases of corneal dystrophy are of three types, classified by their inheritance pattern: dominant granular dystrophies, recessive macular dystrophy and dominant lattice-like dystrophies. Corneal dystrophies are associated with corneal epithelium, Bowman’s layer, corneal stroma and corneal endothelium. Corneal dystrophies may be present at birth, but more frequently occur during adolescence.