Sensory system
About this category
Disturbances in the development and functioning of the sensory organs may occur as one of the symptoms of complex genetic syndromes. Hereditary diseases of the sense organs are, for example, associated with the possibility of blindness, reduced vision, hearing loss or deafness. Vision disorders are the result of mutations in genes causing, among others, gradual degeneration of photoreceptors and retinal pigment epithelial cells (Stargardt's disease), impaired structure and function of rods and cones, defects in the development of the eyeball. Genetically conditioned hearing impairment is in isolated cases in 85%.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
34 panels-
Achromatopsy
7 genesATF6; CNGA3; CNGB3; GNAT2; OPN1LW; PDE6C; PDE6H
615 EURDetails -
Albinism
26 genesAP3B1; AP3D1; BLOC1S3; BLOC1S6; C10orf11; CACNA1F; DTNBP1; EDNRB; GPR143; HPS1; HPS3; HPS4; HPS5; HPS6; LYST; MC1R; MITF; MLPH; MYO5A; OCA2; RAB27A; SLC24A5; SLC38A8; SLC45A2; TYR; TYRP1
615 EURDetails -
Alport syndrome
Frequently chosen 6 genesCD151; COL4A3; COL4A4; COL4A5; COL4A6; MYH9
615 EURDetails -
Bardet-Biedl Syndrome
29 genesALMS1; ARL6; BBIP1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; C8orf37; CCDC28B; CEP19; CEP290; CPE; IFT172; IFT27; IFT74; LZTFL1; MKKS; MKS1; PNPLA6; SCAPER; SDCCAG8; TMEM67; TRIM32; TTC8; WDPCP
615 EURDetails -
Branchio-oto-renal and branchio-otic syndrome
4 genesEYA1; SIX1; SIX5; TFAP2A
530 EURDetails -
Cataract
70 genesABCB6; ADAMTSL4; AGK; ALDH18A1; BCOR; BFSP2; CHMP4B; COL11A1; COL18A1; COL2A1; COL4A1; CRYAA; CRYAB; CRYBA1; CRYBA4; CRYBB1; CRYBB2; CRYBB3; CRYGA; CRYGB; CRYGC; CRYGD; CRYGS; CTDP1; CYP27A1; EPHA2; ERCC2; ERCC5; ERCC6; ERCC8; EYA1; FAM126A; FTL; FYCO1; FZD4; GALK1; GALT; GCNT2; GJA1; GJA3; GJA8; HSF4; LEMD2; LIM2; LSS; MAF; MIP; MYH9; NDP; NF2; NHS; OCRL; OPA3; PAX6; PITX3; PRX; RAB3GAP1; RECQL4; RRAGA; SIL1; SLC16A12; SLC33A1; TDRD7; TFAP2A; TMEM114; TMEM70; UNC45B; VIM; WFS1; WRN
615 EURDetails -
Cataract – small panel
23 genesBFSP2; CHMP4B; CRYBA1; CRYBA4; CRYBB1; CRYBB2; CRYBB3; CRYGA; CRYGB; CRYGC; CRYGD; CRYGS; EPHA2; FTL; GJA3; GJA8; HSF4; MIP; PRX; RRAGA; TMEM114; UNC45B; VIM
615 EURDetails -
Cone-rod dystrophies
36 genesABCA4; ADAM9; AIPL1; BEST1; CABP4; CACNA1F; CACNA2D4; CDHR1; CERKL; CLN3; CNGA3; CNGB3; CNNM4; CRB1; CRX; CYP4V2; DRAM2; FBLN5; GNAT2; GUCA1A; GUCY2D; KCNV2; MERTK; PDE6C; PDE6H; PITPNM3; PROM1; PRPH2; RAB28; RAX2; RDH5; RIMS1; RPGR; RPGRIP1; SEMA4A; TTLL5
615 EURDetails -
Congenital stationary night blindness
18 genesCABP4; CACNA1F; CACNA2D4; CYP4V2; GNAT1; GPR179; GRK1; GRM6; LRIT3; NYX; PDE6B; RDH5; RHO; RLBP1; RPE65; SAG; SLC24A1; TRPM1
615 EURDetails -
Corneal dystrophies
20 genesCHRDL1; CHST6; COL5A1; COL8A2; CYP4V2; DCN; GJA8; KRT12; KRT3; LCAT; LOXHD1; MAF; OVOL2; PITX2; SLC4A11; TACSTD2; TCF4; TGFBI; ZEB1; ZNF469
615 EURDetails -
External Ophthalmoplegia
34 genesBCS1L; C10orf2; COX10; COX15; DLD; DNA2; GDAP1; ISCU; LRPPRC; MFN2; MPV17; NDUFS1; NDUFS3; NDUFS4; NDUFS7; NDUFS8; NDUFV1; OPA1; PDHA1; POLG; POLG2; PUS1; RNASEH1; RRM2B; SCO2; SDHA; SLC25A4; SPG7; SUCLA2; SUCLG1; SURF1; TK2; TOP3A; TYMP
615 EURDetails -
Eye dysgenesis disorders
38 genesABCB6; BCOR; BMP4; CHD7; COL4A1; CYP1B1; ERCC2; ERCC5; ERCC6; FOXL2; FRAS1; FREM1; GDF6; GJA1; HCCS; HDAC6; HESX1; MFRP; NAA10; NDP; OCRL; OTX2; PAX2; PAX6; PITX2; PQBP1; PRSS56; RAB3GAP1; RARB; SHH; SIX3; SMCHD1; SOX2; STRA6; TENM3; TFAP2A; VPS13B; ZIC2
615 EURDetails -
Flecked retina disorders
11 genesABCA4; CHM; CYP4V2; ELOVL4; PROM1; PRPH2; RDH5; RHO; RLBP1; RS1; VPS13B
615 EURDetails -
Glaucoma
18 genesBFSP1; CNTNAP2; COL4A1; CYP1B1; LMX1B; LOXL1; LTBP2; MAF; MYOC; OPA1; OPA3; OPTN; PAX6; PITX2; SBF2; TBK1; TMEM126A; WDR36
615 EURDetails -
Hearing disorders
153 genesABHD12; ACTG1; ADCY1; ALMS1; ANKH; ATP6V1B1; BCS1L; BDP1; BSND; BTD; CABP2; CACNA1D; CCDC50; CD151; CDH23; CEACAM16; CHD7; CHSY1; CIB2; CLDN14; CLIC5; CLRN1; COCH; COL11A1; COL11A2; COL2A1; COL4A3; COL4A4; COL4A5; COL4A6; COL9A1; COL9A2; COL9A3; CRYM; DCDC2; DFNA5; DFNB59; DIABLO; DIAPH1; DIAPH3; DLX5; DSPP; EDN3; EDNRB; ELMOD3; EPS8; ESPN; ESRRB; EYA1; EYA4; FAM65B; FGF3; FGFR3; FOXI1; GATA3; GIPC3; GJB2; GJB3; GJB6; GPSM2; GRHL2; GRXCR1; GRXCR2; HARS; HGF; HOMER2; HOXB1; HSD17B4; ILDR1; KARS; KCNE1; KCNJ10; KCNQ4; LHFPL5; LOXHD1; LRP2; LRTOMT; MANBA; MARVELD2; MET; MITF; MSRB3; MYH14; MYH9; MYO15A; MYO1A; MYO3A; MYO6; MYO7A; NARS2; NDP; NLRP3; OSBPL2; OTOA; OTOF; OTOG; OTOGL; P2RX2; PAX3; PCDH15; PDZD7; PNPT1; POLR1C; POLR1D; POU3F4; POU4F3; PRPS1; PTPRQ; RDX; RMND1; RPS6KA3; SALL4; SEMA3E; SERPINB6; SIX1; SIX5; SLC17A8; SLC19A2; SLC26A4; SLC26A5; SLC29A3; SLC33A1; SLITRK6; SMAD4; SMPX; SNAI2; SOX10; STRC; SUCLA2; SUCLG1; SYNE4; TBC1D24; TCOF1; TECTA; TFAP2A; TIMM8A; TJP2; TMC1; TMC2; TMEM132E; TMIE; TMPRSS3; TNC; TPRN; TRIOBP; TRMU; TSPEAR; TYR; USH1C; USH1G; USH2A; VCAN; WFS1
615 EURDetails -
Joubert syndrome
46 genesAHI1; ARL13B; ARL3; ARMC9; B9D1; B9D2; C21orf2; C2CD3; C5orf42; CC2D2A; CEP104; CEP120; CEP164; CEP290; CEP41; CSPP1; EXOC8; FAM149B1; GLI3; IFT172; INPP5E; KIAA0556; KIAA0586; KIAA0753; KIF7; MKS1; NEK8; NPHP1; NPHP3; OFD1; PDE6D; PIBF1; POC1B; RPGRIP1L; SUFU; TCTN1; TCTN2; TCTN3; TMEM107; TMEM138; TMEM216; TMEM231; TMEM237; TMEM67; TTC21B; ZNF423
615 EURDetails -
Leber syndrome
26 genesAIPL1; ALMS1; BBS4; CABP4; CEP290; CNGA3; CRB1; CRX; DTHD1; GUCY2D; IMPDH1; IQCB1; KCNJ13; LCA5; LRAT; MERTK; MYO7A; NMNAT1; RD3; RDH12; RDH5; RPE65; RPGRIP1; SPATA7; TULP1; USP45
615 EURDetails -
Macular degeneration
21 genesABCA4; BEST1; C2; CERKL; CFB; CFH; CNGB3; CRB1; ELOVL4; FBLN5; HTRA1; IMPG1; PROM1; PRPH2; RAX2; RDH12; RDH5; RLBP1; RP1L1; RPGR; RS1
615 EURDetails -
Neuroophtalmology
24 genesAPTX; FRMD7; GPR143; HESX1; MFN2; NDUFS1; OPA1; OPA3; OTX2; PAX6; POLG; ROBO3; RRM2B; SALL4; SETX; SLC25A4; SOX2; SPG7; TIMM8A; TK2; TMEM126A; TUBB3; TYMP; WFS1
615 EURDetails -
Non-syndromic deafness
92 genesACTG1; ADCY1; BDP1; BSND; CABP2; CCDC50; CDH23; CEACAM16; CIB2; CLDN14; CLIC5; COCH; COL11A2; COL4A6; CRYM; DCDC2; DFNA5; DFNB31; DFNB59; DIABLO; DIAPH1; DIAPH3; DSPP; ELMOD3; EPS8; ESPN; ESRRB; EYA4; FAM65B; GIPC3; GJB2; GJB3; GJB6; GPSM2; GRHL2; GRXCR1; GRXCR2; HGF; HOMER2; ILDR1; KARS; KCNQ4; LHFPL5; LOXHD1; LRTOMT; MARVELD2; MET; MSRB3; MYH14; MYH9; MYO15A; MYO1A; MYO3A; MYO6; MYO7A; NARS2; OSBPL2; OTOA; OTOF; OTOG; OTOGL; P2RX2; PCDH15; PNPT1; POU3F4; POU4F3; PRPS1; PTPRQ; RDX; SERPINB6; SIX1; SLC17A8; SLC26A4; SLC26A5; SLITRK6; SMPX; STRC; SYNE4; TBC1D24; TECTA; TJP2; TMC1; TMC2; TMEM132E; TMIE; TMPRSS3; TNC; TPRN; TRIOBP; TSPEAR; USH1C; WFS1
615 EURDetails -
Non-syndromic deafness, autosomal-dominant
65 genesACTG1; CCDC50; CDH23; CLDN14; COCH; COL11A2; CRYM; DFNA5; DFNB31; DFNB59; DIABLO; DIAPH1; DIAPH3; ESPN; ESRRB; EYA4; FOXI1; GIPC3; GJB2; GJB3; GJB6; GPSM2; GRHL2; GRXCR1; HGF; ILDR1; KCNJ10; KCNQ4; LHFPL5; LOXHD1; LRTOMT; MARVELD2; MSRB3; MYH14; MYH9; MYO15A; MYO1A; MYO3A; MYO6; MYO7A; OTOA; OTOF; PCDH15; POU3F4; POU4F3; PRPS1; PTPRQ; RDX; SERPINB6; SIX1; SLC12A1; SLC17A8; SLC26A4; SLC26A5; SMPX; STRC; TECTA; TJP2; TMC1; TMIE; TMPRSS3; TPRN; TRIOBP; USH1C; WFS1
615 EURDetails -
Optic nerve atrophy
11 genesACO2; FDXR; MFN2; NDUFS1; OPA1; OPA3; POLG; SPG7; TIMM8A; TMEM126A; WFS1
615 EURDetails -
Pendred syndrome
3 genesFOXI1; KCNJ10; SLC26A4
530 EURDetails -
Retinal dystrophies
183 genesABCA4; ABHD12; ADAM9; ADAMTS18; AHI1; AIPL1; ALMS1; ARL13B; ARL6; ATF6; B9D1; B9D2; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BEST1; C21orf2; C8orf37; CABP4; CACNA1F; CACNA2D4; CAPN5; CC2D2A; CDH23; CDHR1; CEP164; CEP250; CEP290; CEP41; CEP78; CERKL; CHM; CIB2; CLN3; CLRN1; CNGA1; CNGA3; CNGB1; CNGB3; CNNM4; COL11A1; COL11A2; COL18A1; COL2A1; COL9A1; COL9A2; COL9A3; CRB1; CRX; CSPP1; CYP4V2; DFNB31; DHDDS; DTHD1; EFEMP1; ELOVL4; EYS; FAM161A; FBLN5; FLVCR1; FRMD7; FZD4; GNAT1; GNAT2; GNPTG; GPR179; GPR98; GRK1; GRM6; GUCA1A; GUCY2D; HARS; HK1; HMX1; IDH3B; IFT140; IFT172; IMPDH1; IMPG1; IMPG2; INPP5E; INVS; IQCB1; KCNJ13; KCNV2; KIAA0586; KIF11; KIF7; KLHL7; LCA5; LRAT; LRIT3; LRP2; LRP5; MAK; MERTK; MKKS; MKS1; MVK; MYO7A; NDP; NMNAT1; NPHP1; NPHP3; NPHP4; NR2E3; NRL; NYX; OAT; OFD1; OPA1; OPA3; OTX2; PANK2; PCDH15; PDE6A; PDE6B; PDE6C; PDE6G; PDE6H; PDZD7; PEX1; PEX2; PEX7; PHYH; PRCD; PROM1; PRPF3; PRPF31; PRPF8; PRPH2; RAX2; RBP3; RD3; RDH12; RDH5; RGR; RHO; RLBP1; RP1; RP1L1; RP2; RPE65; RPGR; RPGRIP1; RPGRIP1L; RS1; SAG; SDCCAG8; SEMA4A; SNRNP200; SPATA7; TCTN1; TCTN2; TCTN3; TMEM107; TMEM126A; TMEM138; TMEM216; TMEM231; TMEM237; TMEM67; TOPORS; TRIM32; TRPM1; TSPAN12; TTC21B; TTC8; TTPA; TULP1; USH1C; USH1G; USH2A; VCAN; VPS13B; WDR19; ZNF423; ZNF513
615 EURDetails -
Retinal dystrophy-related syndromes
4 genesAPOE; CFHR1; CFHR3; HMCN1
530 EURDetails -
Retinitis pigmentosa
84 genesABCA4; ABHD12; AIPL1; ARL6; BBS1; BBS2; BEST1; C2orf71; CA4; CDHR1; CEP290; CERKL; CHM; CLN3; CLRN1; CNGA1; CNGB1; CRB1; CRX; CYP4V2; DHDDS; EYS; FAM161A; FLVCR1; FSCN2; GNPTG; GUCA1B; GUCY2D; HK1; IDH3B; IMPDH1; IMPG2; KLHL7; LCA5; LRAT; MAK; MERTK; MVK; NMNAT1; NR2E3; NRL; OAT; OFD1; PANK2; PDE6A; PDE6B; PDE6G; PEX1; PEX2; PEX7; PHYH; PRCD; PROM1; PRPF3; PRPF31; PRPF8; PRPH2; RBP3; RDH12; RDH5; RGR; RHO; RLBP1; ROM1; RP1; RP2; RP9; RPE65; RPGR; RPGRIP1; RS1; SAG; SEMA4A; SNRNP200; SPATA7; TOPORS; TTC8; TTPA; TULP1; USH1C; USH2A; VPS13B; WDR19; ZNF513
615 EURDetails -
Retinoblastoma
1 gene530 EURDetails -
Senior-Loken syndrome
10 genesCEP290; INVS; IQCB1; NPHP1; NPHP3; NPHP4; SCLT1; SDCCAG8; TRAF3IP1; WDR19
615 EURDetails -
Stargardt disease
3 genesABCA4; ELOVL4; PROM1
530 EURDetails -
Stickler Syndrome
8 genesCOL11A1; COL11A2; COL2A1; COL9A1; COL9A2; COL9A3; LRP2; VCAN
615 EURDetails -
Syndromic deafness
69 genesABHD12; ACTG1; ALMS1; ANKH; ATP6V1B1; BCS1L; BSND; BTD; CACNA1D; CD151; CDH23; CHD7; CHSY1; CIB2; CLRN1; COL11A1; COL11A2; COL2A1; COL4A3; COL4A4; COL4A5; COL4A6; COL9A1; COL9A2; COL9A3; DFNB31; DLX5; EDN3; EDNRB; EYA1; FGF3; FOXI1; GATA3; GPR98; HARS; HOXB1; KCNE1; KCNJ10; KCNQ1; LRP2; MANBA; MITF; MYH9; MYO7A; NDP; NLRP3; PAX3; PCDH15; PDZD7; POLR1C; POLR1D; SEMA3E; SIX1; SIX5; SLC19A2; SLC26A4; SLITRK6; SMAD4; SNAI2; SOX10; TCOF1; TFAP2A; TIMM8A; TYR; USH1C; USH1G; USH2A; VCAN; WFS1
615 EURDetails -
Usher syndrome
13 genesARSG; CDH23; CIB2; CLRN1; DFNB31; GPR98; HARS; MYO7A; PCDH15; PDZD7; USH1C; USH1G; USH2A
615 EURDetails -
Vitreoretinopathies
22 genesATOH7; BEST1; CAPN5; COL11A1; COL11A2; COL18A1; COL2A1; COL9A1; COL9A2; COL9A3; CTNNB1; FZD4; KCNJ13; KIF11; LEPREL1; LRP5; NDP; NR2E3; RS1; TSPAN12; VCAN; ZNF408
615 EURDetails -
Waardenburg syndrome
8 genesEDN3; EDNRB; KIT; MITF; PAX3; SNAI2; SOX10; TYR
615 EURDetails
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