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Vitreoretinopathy and Stickler Syndrome Panel

Vitreoretinopathies are a set of pathologies characterized by degeneration of the vitreous humor and the retina, premature cataracts and high predisposition to retinal detachments. They are inherited in an autosomal dominant, autosomal recessive and X-linked Mendelian inheritance pattern. The DBGen Panel of Vitreoretinopathies and Stickler Syndrome analyzes 29 genes and 7 internal intronic mutations causing these pathologies.

Main Pathologies


The panel includes the major genes responsible for the following disorders:

  • Bestrophinopathy

  • Enhanced S-cone syndrome

  • Exudative vitreoretinopathy

  • Knobloch syndrome

  • Norrie disease

  • Retinoschisis

  • Rhegmatogenous retinal detachment

  • Stickler syndrome

  • Vitreoretinochoroidopathy

  • Wagner syndrome


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.

ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTC1, CTNNB1, FZD4, KCNJ13, KIAA1395, KIF11, LAMA1, LAMA5, LRP2, LRP5, NDP, NR2E3, P3H2, PLK4, RCBTB1, RS1, TSPAN12, VCAN, ZNF408

NGS sequencing of reported mutations in non-coding regions:

COL2A1 c.86-50C>G, c.1527+104T>G, c.1527+135G>A, c.3435+79A>T, c.3435+83C>G; COL11A1 c.991-24A>G, c.3708+437T>G

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