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Retinitis Pigmentosa Panel

Retinitis pigmentosa (RP) is the most common form of retinal dystrophies. It is characterized by an initial involvement of the rods and subsequent degeneration of the cones and cells of the retinal pigment epithelium. The first clinical symptoms are loss of night vision and a progressive decrease in visual field (tunnel vision) leading to total vision loss. It is inherited following an autosomal dominant, autosomal recessive, or sex-linked pattern. Its prevalence is 1: 4,000 individuals, with more than one million people affected worldwide. The DBGen Retinitis Pigmentosa Panel includes the genetic study of the coding regions of 159 genes and of deep intronic mutations.

Main Pathologies


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

  • Retinitis pigmentosa, autosomal dominant

  • Retinitis pigmentosa, autosomal recessive

  • Retinitis pigmentosa, X-linked

  • Retinitis pigmentosa, syndromic


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.

ABCA4, ABCC6, ABHD12, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, BTD, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CACNA1F, CDH16, CDHR1, CDK10, CEP250, CEP290, CERKL, CHM, CLCC1, CLN3, CLN5, CLN6, CLRN1, CNGA1, CNGB1, CRB1, CRB2, CRX, CTNNA1, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GPR125, GRK1, GUCA1B, GUCY2D, GYLTL1B, HADHA, HGSNAT, HK1, HMCN1, IDH3A, IDH3B, IFT140, IFT172, IFT43, IFT80, IMPDH1, IMPG2, INPP5E, JAG1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MAPKAPK3, MERTK, MFRP, MKKS, MVK, NEK2, NEUROD1, NMNAT1, NR2E3, NRL, OAT, OFD1, OR2W3, PANK2, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, POC5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SAMD11, SCAPER, SCLT1, SEMA4A, SLC4A3, SLC7A14, SMARCA4, SNRNP200, SPATA7, SPP2, TOPORS, TPP1, TRNT1, TTC8, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH2A, USH1G, VPS13B, WDR19, ZNF408, ZNF513

NGS sequencing of reported mutations in non-coding regions:

ABCA4 (all introns), C21ORF2 c.643-23A>T; CEP290 c.2991+1655A>G; CHM c.315-1536A>G, c.315-4587T>A and four regulatory regions; CLN3 c.1056+34C>A; CLRN1 c.254-649T>G; GUCY2D c.-9-137T>C; DHDDS c.441-24A>G; GNPTG c.609+28_610-16del; HGSNAT c.821-28_821-10delTTGCTTATGCTTTGTACTT; HK1 c.-40237G>C, c.-839222G>A; IFT140 c.2577+25G>A; IMPDH1 c.402+57G>A; PGK1 c.1214-25T>G; PROM1 c.2077-521A>G; PRPF31 c.1374+654C>G; RDH12 c.848+82C>G; RPGR c.1059+363G>A, c.1905+1553A>C; RPGRIP1 c.1468-263G>C, c.1611+27G>A, c.2367+23delG; USH2A c.-259G>T, c.5573-834A>G, c.7595-2144A>G, c.8845+628C>T, c.9959-4159A>G
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