Panel type and genes analyzed
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