Gen-Panel für Untersuchungen mittels Hochdurchsatzsequezierung
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.