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Cataract Panel – New

Cataract is defined as clouding of the lens. They are classified by age of onset: congenital or infantile cataracts within the first year of life; juvenile cataracts within the first decade of life; presenile cataracts before 45 years of age; and senile. Congenital cataract is present at birth or during early childhood and is one of the most common eye diseases that cause visual impairment or blindness in children around the world. The DBGen cataract panel includes the study of the coding regions of 90 genes and 15 deep intronic mutations.

Main Pathologies


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

  • Cataract


Panel type and genes analyzed


MEDIUM

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

ADAMTS18, ADAMTSL4, AGK, ALDH18A1, ARL2, B4GAT1, BCOR, BFSP1, BFSP2, CHMP4B, COL2A1, COL4A1, COL11A1, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, DNMBP, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FKRP, FOXE3, FTL, FYCO1, FZD4, GALE, GALK1, GCNT2, GJA1, GJA3, GJA8, HSF4, INPP5K, LARGE1, LEMD2, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NHS, OCRL, OPA3, P3H2, PAX6, PITX3, POMGNT2, POMK, POMT1, POMT2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RPGRIP1, SIL1, SIPA1L3, SLC16A12, SLC33A1, SLC4A4, SRD5A3, TBC1D20, TDRD7, TFAP2A, TRPM3, VIM, VSX2, WFS1, WRN, XYLT2

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; CTDP1 c.863+389C>T; ERCC8 c.173+1046A>G, c.173+1119G>C; PAX6 c.357+136G>A, c.357+334G>A; RPGRIP1 c.1468-263G>C, c.1611+27G>A, c.2367+23delG
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