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Retinal Dystrophies Panel

This group of ocular pathologies presents a high degree of genetic and clinical heterogeneity with a stationary or progressive disease development. Reported isolated or syndromic forms follow an autosomal dominant, autosomal recessive or X-linked Mendelian inheritance pattern. More than 350 genes causing this group of pathologies are known. Mutations in the same gene can cause different diseases. The complete DBGen panel analyzes 395 genes and the intronic regions containing mutations that cause the most common retinal dystrophies and other visual pathologies.

Main Pathologies


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

  • Achromatopsia

  • Albinism

  • Alström syndrome

  • Aniridia

  • Axenfeld-Rieger syndrome

  • Bardet-Biedl syndrome

  • Bestrophinopathy

  • Bietti crystalline dystrophy

  • Bosch-Boonstra-Schaaf opticatrophy syndrome

  • Bothnia retinal dystrophy

  • Bradyopsia

  • Central areolar choroidal dystrophy

  • Choroideremia

  • COACH syndrome

  • Cohen syndrome

  • Cone-rod dystrophy

  • Congenital stationary night blindness

  • Costeff optic atrophy syndrome

  • Doyne honeycomb degeneration of retina

  • Enhanced S-cone syndrome

  • Exudative vitreoretinopathy

  • Familial benign fleck retina

  • Fundus Albipunctatus

  • Congenital glaucoma

  • Hermansky-Pudlak syndrome

  • Jalili syndrome

  • Joubert syndrome

  • Knobloch syndrome

  • Leber congenital amaurosis

  • Mainzer-Saldino syndrome

  • McKusick-Kaufman syndrome

  • Meckel syndrome

  • Mevalonate kinase deficiency

  • Nephronophthisis

  • Norrie disease

  • Oculocutaneous albinism

  • Oguchi disease

  • Open-angle glaucoma

  • Optic atrophy

  • Optic nerve hypoplasia

  • Peters anomaly

  • Pigmented paravenous chorioretinal atrophy

  • Refsum disease

  • Retinitis pigmentosa

  • Retinoschisis

  • Rhegmatogenous retinal detachment

  • Senior-Loken syndrome

  • Sorsby Fundus Dystrophy

  • Stargardt disease

  • Stickler syndrome

  • Usher syndrome

  • Vitelliform macular dystrophy type I

  • Vitelliform macular dystrophy type II

  • Vitreoretinochoroidopathy

  • Waardenburg syndrome

  • Wagner syndrome


Panel type and genes analyzed


LARGE

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, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ANKS6, AP3B1, ARHGEF18, ARL13B, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATAD3A, ATF6, ATOH7, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BLOC1S3, BLOC1S6, BTD, C10ORF11, C12ORF65, C19ORF12, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5ORF42, C8ORF37, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC41, CCT2, CDH16, CDH23, CDH3, CDHR1, CDK10, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFH, CHM, CIB2, CISD2, CLCC1, CLDN19, CLN3, CLN5, CLN6, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CPE, CRB1, CRB2, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CWC27, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC17, DNAJC19, DNM1L, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EMC1, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FBN3, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, GPR125, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, GYLTL1B, HADHA, HARS1, HGSNAT, HK1, HMCN1, HPS1, HPS3, HPS4, HPS5, HPS6, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ITM2B, JAG1, KATNIP/KIA0556, KCNJ13, KCNV2, KIAA0586, KIAA0753, KIAA1395, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LAMA1, LAMA5, LAMB2, LCA5, LRAT, LRIT3, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MC1R, MCAT, MECR, MERTK, MFN2, MFRP, MFSD8, MITF, MKKS, MKS1, MLPH, MTPAP, MVK, MYO5A, MYO7A, NBAS, NDP, NDUFS1, NEK2, NEK8, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OR2W3, P3H2, PANK2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POLG, POLG2, POMGNT1, PRCD, PRDM13, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB27A, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SEMA6B, SLC24A1, SLC24A2, SLC24A5, SLC25A46, SLC38A8, SLC45A2, SLC4A3, SLC52A2, SLC7A14, SMARCA4, SNAI2, SNRNP200, SNX10, SOX10, SOX3, SPATA7, SPG7, SPP2, SSBP1, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UCHL1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VHL, VPS13B, WDPCP, WDR19, WFS1, YME1L1, ZNF408, ZNF423, ZNF513, ZNHIT3

NGS sequencing of reported mutations in non-coding regions:

ABCA4 (all introns), BBS1 c.951+58C>T; BBS5 c.619-27T>G; C21ORF2 c.643-23A>T; CEP290 c.2991+1655A>G; CHM c.315-4587T>A, c.315-1536A>G and four regulatory regions; CLN3 c.1056+34C>A; CLRN1 c.254-649T>G; CNGA3 c.-37-1G>C; CNGB3 c.1663–1205G>A; COL11A1 c.991-24A>G, c.3708+473T>G; COL2A1 c.86-50C>G, c.1527+104T>G, c.1527+135G>A, c.3435+79A>T, c.3435+83C>G; DHDDS c.441-24A>G; FRMD7 c.285-118C>T; GNAT2 c.461+24G>A; GNPTG c.609+28_610-16del; GPR143 c.659-131T>G; GUCY2D c.-9-137T>C; HGSNAT c.821-28_821-10delTTGCTTATGCTTTGTACTT; HK1 c.-40237G>C, C.-83922G>A; HPS3 c.2888-1612G>A; IFT140 c.2577+25G>A; IMPDH1 c.402+57G>A; OFD1 c.935+706A>G, c.1130-22_1130-19delAATT; OPA1 c.449-34dupA, c.32+24C>G, c.2014-40G>C, c.610-360 G>A, c.610-364 G>A; PAX6 c.357+136G>A, c.357+334G>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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