Augenerkrankungen

Usher-Syn­drom I
MYO7A, CDH23, USH1C, USH1G, PCDH15 (5 Gene, 25 kb)

Usher-Syn­drom II
USH2A, DFNB31, GPR98 (3 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABHD12, CDH23, CEP78, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A (14 Gene, 75 kb)

Ein­sen­de­for­mu­lar

Ret­in­i­tis pig­mento­sa, auto­so­mal domi­nant und X-gekop­pelt
RHO, RPGR (inkl. ORF15), RP1, PRPF31, RP2, PRPH2, RPE65, PRPF8, SNRNP200 (9 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
BEST1, CA4, CACNA1F, CRX, GUCA1B, HK1, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR (inkl. ORF15), SEMA4A, SNRNP200, TOPORS (28 Gene, 64 kb)

Ein­sen­de­for­mu­lar

Ret­in­i­tis pig­mento­sa, auto­so­mal rezes­siv und X-gekop­pelt
USH2A, RHO, RPGR (inkl. ORF15), RPE65, EYS (5 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCA4, AGBL5, AHI1, ARL2BP, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CACNA1F, CDHR1, CEP290, CERKL, CLN3, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, EYS, FAM161A, FLVCR1, GNAT1, GUCY2D, HGSNAT, IFT140, IFT172, IMPG2, KIZ, LRAT, MAK, MERTK, MFRP, NR2E3, NRL, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF31, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR (inkl. ORF15), RPGRIP1, SAG, SLC7A14, SPATA7, TULP1, USH2A (60 Gene, 168 kb)

Ein­sen­de­for­mu­lar

Achro­mat­op­sie
CNGB3 Exon 10, CNGB3, CNGA3, GNAT2, PDE6C, ATF6, PDE6H (6 Gene, 10 kb)

Ein­sen­de­for­mu­lar

Bar­det-Biedl-Syn­drom
BBS1, BBS10, BBS2, MKKS, BBS9, BBS12, MKS1, BBS4, BBS7, TTC8, CEP290 (11 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP290, IFT172, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TTC8 (19 Gene, 40 kb)

Ein­sen­de­for­mu­lar

Kon­ge­ni­ta­le sta­tio­nä­re Nacht­blind­heit
CACNA1F, NYX, TRPM1, GRM6, GPR179, GRK1, LRIT3 (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RBP4, RHO, SAG, SLC24A1, TRPM1 (14 Gene, 36 kb)

Ein­sen­de­for­mu­lar

Jou­bert-Syn­drom
TMEM67, C5ORF42, AHI1, CC2D2A, CEP290 (5 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AHI1, ARL13B, ARMC9, B9D1, C2CD3, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423 (31 Gene, 92 kb)

Ein­sen­de­for­mu­lar

Leber‘sche kon­ge­ni­ta­le Amau­ro­se
CEP290, GUCY2D, CRB1, RDH12, RPE65, RPGRIP1, IMPDH1, AIPL1, SPATA7 (9 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AIPL1, ALMS1, CEP290, CRB1, CRX, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 (22 Gene, 57 kb)

Ein­sen­de­for­mu­lar

Zell­we­ger-Syn­drom-Spek­trum (Refsum/Zellweger/Neonatale Adre­n­oleuko­dys­tro­phie)
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH (15 Gene, 21 kb)

Ein­sen­de­for­mu­lar

Seni­or-Loken-Syn­drom
IQCB1, SDCCAG8, NPHP1, INVS, NPHP3, NPHP4, CEP290 (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
CEP164, CEP290, IFT81, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423 (12 Gene, 41 kb)

Ein­sen­de­for­mu­lar

Mor­bus Star­gardt und Maku­la­dys­tro­phi­en
ABCA4, BEST1, PRPH2, PROM1, RPGR (inkl. ORF15), RP1L1, ELOVL4, CNGB3 (8 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCA4, BEST1, C1QTNF5, CDH3, CFH, CLN3, CNGB3, CRX, CTNNA1, DRAM2, ELOVL4, IMPG1, IMPG2, IRX1, MFSD8, PROM1, PRPH2, RP1L1, RPGR (inkl. ORF15), TIMP3, TTLL5 (21 Gene, 53 kb)

Ein­sen­de­for­mu­lar

Zap­fen- und Zap­fen-Stäb­chen Dys­tro­phi­en
ABCA4, GUCY2D, RPGR (inkl. ORF15), CRX, PRPH2, PROM1, KCNV2, CNGA3, CNGB3, GUCA1A (10 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCA4, ADAM9, AIPL1, ALMS1, ATF6, C21ORF2, C2ORF71, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CNGA3, CNGB3, CNNM4, CRB1, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, NMNAT1, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH12, RIMS1, RPGR (inkl. ORF15), RPGRIP1, SEMA4A, TTLL5 (39 Gene, 101 kb)

Ein­sen­de­for­mu­lar

Fle­cked Reti­na Erkran­kun­gen
CHM, EFEMP1, PLA2G5, PRPH2, RDH5, RLBP1, RHO, RPE65, RS1, VPS13B (10 Gene, 22 kb)

Ein­sen­de­for­mu­lar

Vit­re­o­re­ti­no­pa­thi­en (Wag­ner-Syn­drom/­Nor­rie/­Coats)
CAPN5, COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN, ZNF408 (8 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ATOH7, BEST1, CAPN5, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, RCBTB1, TSPAN12, VCAN, ZNF408 (14 Gene, 37 kb)

Ein­sen­de­for­mu­lar

Stick­ler-Syn­drom
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 (6 Gene, 22 kb)

Ein­sen­de­for­mu­lar

Opti­ku­satro­phie
OPA1, OPA3, TMEM126A, WFS1, MFN2, TIMM8A, SPG7, NR2F1, ACO2, RTN4IP1, AFG3L2, C12ORF65, SLC25A46, CISD2, DNM1L, YME1L1, MT-ND1, m.3460G>A; MT-ND4, m.11778G>A; MT-ND6, m.14484T>C (16 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ACO2, AFG3L2, ANTXR1, C12ORF65, CISD2, DNM1L, FDXR, MFN2, MT-ND1, m.3460G>A; MT-ND4, m.11778G>A; MT-ND6, m.14484T>C, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1, YME1L1 (18 Gene, 29 kb)

Ein­sen­de­for­mu­lar

Oku­lo­ku­ta­ner Albi­nis­mus
C10ORF11, GPR143, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1 (8 Gene, 11 kb)

Ein­sen­de­for­mu­lar

Waar­den­burg-Syn­drom und Vici-Syn­drom
EDN3, EDNRB, MITF, PAX3, SOX10, TYR, EPG5 (7 Gene, 16 kb)

Her­man­sky Pud­lak-Syn­drom
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 (9 Gene, 18 kb)

Gris­cel­li-Syn­drom und Che­di­ak-Higa­shi-Syn­drom
LYST, MLPH, MYO5A, RAB27A (4 Gene, 19 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, EPG5, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MITF, MLPH, MYO5A, PAX3, RAB27A, SOX10, TYR (20 Gene, 54 kb)

Ein­sen­de­for­mu­lar

Oku­lä­re Fehl­bil­dun­gen (Mikrophthalmie/Anophthalmie/Nanophthalmie/Kolobom)
SOX2, OTX2, ALDH1A3, RAX, FOXE3, BMP4, PAX6, BCOR, CHD7, STRA6, GDF6 (11 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCB6, ALDH1A3, ATOH7, BCOR, BMP4, CHD7, FOXE3, FREM1, GDF3, GDF6, HCCS, HMX1, MAB21L2, MFRP, OTX2, PAX2, PAX6, PIGL, POMGNT1, PRSS56, RARB, RAX, RBP4, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, TMEM98, VAX1, VSX2 (32 Gene, 63 kb)

Ein­sen­de­for­mu­lar

Kata­rakt, nicht-syn­dromal
CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, PITX3, HSF4, MIP, GJA3, GJA8, BFSP1, BFSP2, FOXE3, GCNT2, LIM2, AGK, EPHA2, FYCO1 (23 Gene, 25 kb)

Kata­rakt, syn­dromal
AGK, BCOR, EYA1, FAM126A, FOXE3, FTL, GALK1, GALT, NHS, PAX6,
PITX3, SIL1, WRN (13 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABHD12, AGK, BCOR, BFSP1, BFSP2, CHMP4B, CLPB, COL4A1, CRYAA,
CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD,
CRYGS, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, EYA1, FAM126A,
FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LEMD2,
LEPREL1, LIM2, LSS, MAF, MIP, MIR184, NDP, NHS, OCRL, OPA3, PAX6,
PEX7, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SIPA1L3, SLC16A12,
TDRD7, VIM, VSX2, WRN (58 Gene, 110 kb)

Ein­sen­de­for­mu­lar

Sep­to-opti­sche Dys­pla­sie (SOD)
HESX1, OTX2, PROKR2, SOX2, SOX3, FGFR1 (6 Gene, 7 kb)

Ein­sen­de­for­mu­lar

Glau­kom
CYP1B1, FOXC1, FOXE3, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 (12 Gene, 24 kb)

Ein­sen­de­for­mu­lar

Horn­haut­dys­tro­phi­en
AGBL1, COL8A2, CYP4V2, DCN, KRT12, KRT3, LOXHD1, SLC4A11, TGFBI, VSX1, ZEB1 (11 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AGBL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GSN, KRT12, KRT3, LOXHD1, OVOL2, PIKFYVE, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469 (21 Gene, 61 kb)

Ein­sen­de­for­mu­lar

Lin­sen­lu­xa­ti­on
ADAMTSL4, FBN1 (2 Gene, 11 kb)

Ein­sen­de­for­mu­lar

Kom­plet­tes Panel — Augen­er­kran­kun­gen
ABCA4, ABCB6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTSL4, AFG3L2, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH1A3, ALMS1, ANTXR1, AP3B1, ARL13B, ARL2BP, ARL6, ARMC9, ATF6, ATOH7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C10ORF11, C12ORF65, C1QTNF5, C21ORF2, C2CD3, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CEP78, CERKL, CFH, CHD7, CHM, CHMP4B, CHST6, CIB2, CISD2, CLN3, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CSPP1, CTDP1, CTNNA1, CTNNB1, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DCN, DFNB31, DHDDS, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, EPG5, EPHA2, EYA1, EYS, FAM126A, FAM161A, FBN1, FDXR, FGFR1, FLVCR1, FOXC1, FOXE3, FREM1, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GDF3, GDF6, GJA3, GJA8, GNAT1, GNAT2, GPR143, GPR179, GPR98, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HESX1, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, IRX5, IRX6, KCNJ13, KCNV2, KIAA0556, KIAA0586, KIF11, KIF7, KIZ, KLHL7, KRT12, KRT3, LCA5, LEMD2, LEPREL1, LIM2, LOXHD1, LRAT, LRIT3, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MERTK, MFN2, MFRP, MFSD8, MIP, MIR184, MITF, MKKS, MKS1, MLPH, MT-ND1, MT-ND4, MT-ND6, MYO5A, MYO7A, MYOC, NDP, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPTN, OTX2, OVOL2, PAX2, PAX3, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PIGL, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, POMGNT1, PRCD, PRDM5, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRSS56, PXDN, RAB27A, RAB28, RAB3GAP1, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, RECQL4, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SDCCAG8, SEMA4A, SHH, SIL1, SIPA1L3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC45A2, SLC4A11, SLC7A14, SMOC1, SNRNP200, SOX10, SOX2, SOX3, SPATA7, SPG7, STRA6, SUFU, TACSTD2, TBK1, TCF4, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TGFBI, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM98, TOPORS, TRAF3IP1, TRPM1, TSPAN12, TTC8, TTLL5, TULP1, TYR, TYRP1, UBIAD1, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDR19, WDR36, WFS1, WRN, YME1L1, ZEB1, ZNF408, ZNF423, ZNF469

Ein­sen­de­for­mu­lar