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
2194 PLNDetails -
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
2194 PLNDetails -
Alport syndrome
Frequently chosen 6 genesCD151; COL4A3; COL4A4; COL4A5; COL4A6; MYH9
2194 PLNDetails -
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
2194 PLNDetails -
Branchio-oto-renal and branchio-otic syndrome
4 genesEYA1; SIX1; SIX5; TFAP2A
1894 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Congenital stationary night blindness
18 genesCABP4; CACNA1F; CACNA2D4; CYP4V2; GNAT1; GPR179; GRK1; GRM6; LRIT3; NYX; PDE6B; RDH5; RHO; RLBP1; RPE65; SAG; SLC24A1; TRPM1
2194 PLNDetails -
Corneal dystrophies
20 genesCHRDL1; CHST6; COL5A1; COL8A2; CYP4V2; DCN; GJA8; KRT12; KRT3; LCAT; LOXHD1; MAF; OVOL2; PITX2; SLC4A11; TACSTD2; TCF4; TGFBI; ZEB1; ZNF469
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Flecked retina disorders
11 genesABCA4; CHM; CYP4V2; ELOVL4; PROM1; PRPH2; RDH5; RHO; RLBP1; RS1; VPS13B
2194 PLNDetails -
Glaucoma
18 genesBFSP1; CNTNAP2; COL4A1; CYP1B1; LMX1B; LOXL1; LTBP2; MAF; MYOC; OPA1; OPA3; OPTN; PAX6; PITX2; SBF2; TBK1; TMEM126A; WDR36
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Macular degeneration
21 genesABCA4; BEST1; C2; CERKL; CFB; CFH; CNGB3; CRB1; ELOVL4; FBLN5; HTRA1; IMPG1; PROM1; PRPH2; RAX2; RDH12; RDH5; RLBP1; RP1L1; RPGR; RS1
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Optic nerve atrophy
11 genesACO2; FDXR; MFN2; NDUFS1; OPA1; OPA3; POLG; SPG7; TIMM8A; TMEM126A; WFS1
2194 PLNDetails -
Pendred syndrome
3 genesFOXI1; KCNJ10; SLC26A4
1894 PLNDetails -
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
2194 PLNDetails -
Retinal dystrophy-related syndromes
4 genesAPOE; CFHR1; CFHR3; HMCN1
1894 PLNDetails -
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
2194 PLNDetails -
Retinoblastoma
1 gene1894 PLNDetails -
Senior-Loken syndrome
10 genesCEP290; INVS; IQCB1; NPHP1; NPHP3; NPHP4; SCLT1; SDCCAG8; TRAF3IP1; WDR19
2194 PLNDetails -
Stargardt disease
3 genesABCA4; ELOVL4; PROM1
1894 PLNDetails -
Stickler Syndrome
8 genesCOL11A1; COL11A2; COL2A1; COL9A1; COL9A2; COL9A3; LRP2; VCAN
2194 PLNDetails -
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
2194 PLNDetails -
Usher syndrome
13 genesARSG; CDH23; CIB2; CLRN1; DFNB31; GPR98; HARS; MYO7A; PCDH15; PDZD7; USH1C; USH1G; USH2A
2194 PLNDetails -
Vitreoretinopathies
22 genesATOH7; BEST1; CAPN5; COL11A1; COL11A2; COL18A1; COL2A1; COL9A1; COL9A2; COL9A3; CTNNB1; FZD4; KCNJ13; KIF11; LEPREL1; LRP5; NDP; NR2E3; RS1; TSPAN12; VCAN; ZNF408
2194 PLNDetails -
Waardenburg syndrome
8 genesEDN3; EDNRB; KIT; MITF; PAX3; SNAI2; SOX10; TYR
2194 PLNDetails
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