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Achromatopsia Panel

Achromatopsia (also known as monochromatism) is characterized by chromatic blindness (inability to distinguish colors), nystagmus, and photophobia. It is inherited following an autosomal recessive or X-linked pattern. Its population frequency ranges from 1: 30,000 to 1: 50,000 individuals. The DBGen Achromatopsia Panel includes the genetic study of the coding regions of eleven genes and 3 deep intronic mutations

Main pathologies


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

  • Achromatopsia


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.
ATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW, OPN1SW, PDE6C, PDE6H, RGS9, RGS9BP

NGS sequencing of reported mutations in non-coding regions:
CNGA3 c.-37-1G>C; CNGB3 c.1663–1205G>A; GNAT2 c.461+24G>A

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