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), EYS (4 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)

LHON-Hot­spot Ana­ly­se optio­nal abwähl­bar, falls bereits erfolgt

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