Die hier aufgeführten Gene werden mittels Hochdurchsatzsequenzierung analysiert. Es handelt sich dabei um eine Auswahl von Hauptgenen, die in bisherigen Untersuchungen bzw. publizierten Studien die Mehrzahl der pathogenen Sequenzvarianten tragen. Deshalb sind nicht alle Gene gelistet, die bei unseren Analysen berücksichtigt werden. 

Augenkrankheiten

• Achromatopsie: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
• Bardet Biedl Syndrom (BBS): ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8ORF37, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRIM32, TTC8, TTC21B, WDPCP
• Congenitale stationäre Nachtblindheit: CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRM6, LRIT3, NYX, PDE6B, RHO, SLC24A1, TRPM1
• Erosive Vitreoretinopathie (Morbus Wagner, Morbus Stickler): COL2A1, COL9A1, COL9A2 , COL9A3 , COL11A1 , COL11A2 , LOXL3, LRP2 , VCAN
• Exsudative Vitreoretinopathie (EVR): ATOH7, CTNNB1, FZD4, KIF11, LRP5, NDP, RCBTB1, RS1, TSPAN12, ZNF408
• Katarakt: AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EFNA5, EPHA2, FOXE3, FYCO1, GJA3, GJA8, HSF4, IARS2, LEMD2, LIM2, LSS, LONP1, MAF, MIP, PITX3, POLG, TDRD7, VSX2, WFS1
• Lebers'sche congenitale Amaurose (LCA): AIPL1 , ALMS1, BBS4 , CABP4, CEP290, CNGA3, CRB1, CRX, CWC27, DTHD1, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
• Makuladystrophien: ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RDH5, RDH12, RLBP1, RP1L1, RPGR, RS1, TIMP3
• Nachtblindheit: CABP4, CACNA1F, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RHO, SAG, SLC2A1
• Netzhautdystrophien: ABCA4, ABHD12, ACO2, ADAMTS18, ADGRV1, AHI1, AIPL1, ALMS1, ARL6, ARMC9, ATF6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, C21ORF2, CABP4, CACNA1F, CC2D2A, CDH3, CDH23, CDHR1, CEP290, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX, CSPP1, CTC1, CTNNB1, CYP4V2, DFNB31, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FZD4, GNAT2, GNPTG, GPR179, GRM6, GUCA1A, GUCY2D, HGSNAT, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNV2, KIAA0586, KIF7, KIF11, KLHL7, LCA5, LRAT, LRP2, LRP5, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDZD7, PEX1, PEX2, PEX5, PEX6, PEX7, PEX10, PEX12, PEX16, PEX26, PHYH, PITPNM3, PNPLA6, PRKCG, PROM1, PRPF8, PRPF31, PRPH2, PRPS1, RAX2, RBP3, RD3, RDH5, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SNRNP200, SPATA7, TCTN2, TIMM8A, TIMP3, TMEM67, TMEM231, TMEM237, TOPORS, TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDR19, WFS1
• Optikusatrophie: ACO2, C12ORF65, CISD2, FDXR, MFN2, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1, RTN4IP1, SLC25A46, SLC52A2, SNX10, SPG7, TIMM8A, TMEM126A, WFS1
• Retinitis Pigmentosa (dominant oder rezessiv): ABCA4, ARL6, BBS1, BEST1, C2orf71, C8orf37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1,  CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B,  IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RP9, RPE65, RPGR, PROM1, SAG, SEMA4A, SNRNP200, SPATA7, TTC8, TOPORS, TULP1, USH2A, ZNF513
• Stäbchen-Zapfen-Dystrophien: ABCA4, ARL6, BBS1, BEST1, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CERKL, CLRN1, CNGA1, CNGB1, CRB1,  CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GRM6, GPR179, GUCA1B,  IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, NYX, PDE6A, PDE6B, PDE6G, PRCD, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RP9, RPE65, RPGR, PROM1, SAG, SEMA4A, SNRNP200, SPATA7, TTC8, TOPORS, TRPM1, TULP1, USH2A, ZNF513
• Usher Syndrom: ABHD12, ADGRV1, CDH23, CEP78, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A, WHRN
• Zapfen-Stäbchen-Dystrophien: ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, BEST1, C8ORF37, C21ORF2, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, POC1B, PROM1#, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119

 

Herz-, Kreislauf- und Gefässkrankheiten

• Arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVC): DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN
• Catecholaminerge polymorphe ventrikuläre Tachykardie (CPVT): CALM1, CASQ2, RYR2, TRDN
• Hypertrophe Kardiomyopathie (HCM): ACTC1, ACTN2, CSRP3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, NEXN, PLN, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN
• Dilatative Kardiomyopathie (DCM): ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, DSG2, EYA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
• Long QT Syndrom (LQTS): AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
• Brugada Syndrom (BrS): ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, TRPM4
• Short QT Syndrom (SQTS): KCNQ1, CACNA2D1, KCNH2, KCNJ2, SLC4A3

 

Neurologische und neuromuskuläre Krankheiten

• Ataxien: COQ8A, AFG3L2, APTX, ATM, CACNA1A, CAMTA1, FXN, ITPR1, KCNA1, KCND3, KCNJ10, MRE11A, PNKP, POLG, PRKCG, SACS, SETX, SPG7, SPTBN2, STUB1, SYNE1, TGM6, TTPA
• Polyneuropathien: GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2

 

Weitere Diagnostikangebote

• Systemische autoinflammatorische Krankheiten (SAIDs, z. Bsp. familiäre Fiebersyndrome): < 10 Gene, MEFV, MVK, NLRP3, TNFRSF1A u.a.