Congenital Stationary Night Blindness – CSNB
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 the disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.
The micro-array based test has been developed for screening mutations in three forms of CSNB: autosomal dominant, autosomal recessive and X-linked CSNB. The test can be used to screen 159 mutations in 11 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1 and TRPM1.
Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
ORDERING
Congenital Stationary Night Blindness – read more.
For further information:
Genotyping microarray for CSNB-associated genes
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova-Doumanova, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W
Investigative Ophthalmology and Visual Science, July 2, 2009
(Invest. Ophthalmol. Vis. Sci..2009; 0: iovs.09-3548v1)
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