type your search, and then press enter
Diagnostic tests
Test request
Pathologies
Genetic counseling

Congenital Stationary Night Blindness Panel

Congenital stationary night blindness is characterized by defective dark adaptation and reduced visual acuity, and is often presented with myopia, nystagmus, and strabismus. Given its similarity to other retinal dystrophies, accurate diagnosis is based on electroretinographic tests. It is inherited following all inheritance patterns: autosomal dominant, autosomal recessive, and sex-linked. The DBGen Congenital Stationary Night Blind Panel analyzes the coding regions of 20 genes and 1 deep intronic mutation.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Congenital Stationary Night Blindness

  • Oguchi Disease


Panel type and genes analyzed


SMALL

NGS sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

CABP4, CACNA1F, CACNA2D4, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1

NGS sequencing of reported mutations in non-coding regions:

FRMD7 c.285-118C>T

Copyright © 2021. All Rights Reserved -