An article on congenital stationary night blindness (CSNB) by Dr. Zeitz and three scientists from Asper Biotech was just published in Methods in Molecular Biology (Methods Mol Biol. 2013;963:319-26.). The article describes APEX-based method for the analysis of mutations associated with CSNB.
Details for the article: Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness Vaidla K, Uksti J, Zeitz C, Oitmaa E. Methods Mol Biol. 2013;963:319-26.
Congenital Stationary Night Blindness NGS panel
|CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1
List of diseases covered by the panel
||NGS panel with CNV analysis
||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.
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.