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Glaucoma Panel

Glaucoma is one of the leading causes of blindness worldwide and is characterized by progressive optic nerve damage and irreversible visual field defects, often caused by abnormally high intraocular pressure. The most common forms of glaucoma are those related to increasing age. There are congenital forms that follow an autosomal dominant or recessive inheritance pattern, and syndromic forms and among them the Axenfeld-Rieger syndrome. The DBGen Glaucoma Panel analyzes the coding regions of 20 genes and 12 deep intronic mutations.

Main Pathologies


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

  • Congenital Glaucoma

  • Open-angle Glaucoma


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.

ASB10, COL4A1, CRYAA, CRYBA4, CYP1B1, FOXC1, LMX1B, LTBP2, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, RPGRIP1, SH3PXD2B, TBK1, TEK, TMEM126A, WDR36

NGS sequencing of reported mutations in non-coding regions:

OPA1 c.32+24G>C, c.449-34dupA, c.610-360 G>A, c.610-364G>A, c.2014-40G>C; PAX6 c.357+136G>A, c.357+334G>A; RPGRIP1 c.1468-263G>C, c.1611+27G>A, c.2367+23delG; WDR36 c.292-650A>G, c.730+23A>G

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