Congenital Stationary Night Blindness NGS panel

Genes
(full coding
region):		 CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1

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

Congenital Stationary Night Blindness (CSNB) consists of a group of eye disorders clinically characterized by vision impairment under dim light conditions, nystagmus, refractive error, or retinal changes. Different types of disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.