ScopeMedizinisches Versorgungszentrum am Klinikum Oldenburg GmbH Universitätsinstitut für Medizinische Genetik
115 capabilities
Accredited since June 2025
Verified Apr 2026
One of 3,039 in Germany
Details
Rahel-Straus-Straße 10
Oldenburg 26133 , Germany
Oldenburg 26133 , Germany
Accreditation
Active
DAkkS
D-ML-22580-01-00
Provides comprehensive molecular human genetics testing for diagnosis of hereditary diseases, including next-generation sequencing analysis of single nucleotide variants and copy number variations from blood and DNA specimens.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-22580-01-00
Status
ActiveSince
12 June 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (115)
| Standard Reference | Description | Category |
|---|---|---|
| DISC: Makroglobulin, Immunglobulin G, Transferrin, Albumin, Mikroglobulin | DISC: Makroglobulin, Immunglobulin G, Transferrin, Albumin, Mikroglobulin | Clinical Chemistry |
| - Oberschalenwaagen | - Oberschalenwaagen | Force / Torque |
| (ABCA4, BEST1, C1QTNF5, C3, CDH3, CDHR1, CFH, CNGB3, CRB1, CTNNA1, DRAM2, EFEMP1, ELOVL4, FBLN5, GUCA1B, IMPG1, IMPG2, KIF11, MAPKAPK3, MFSD8, PRDM13, PROM1, PRPH2, RDH5, RP1, RP1L1, RPE65, RPGR, RS1, TIMP3) | MOCS2, MPV17, MRPS16, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, | Molecular Diagnostics / PCR |
| (ABHD12, ACTG1, ADGRV1, AIFM1, ALMS1, AP1S1, ATP1A3, ATP6V1B1, ATP6V1B2, BCS1L, BMP4, BSND, CABP2, CDC14A, CDC6, CDH23, CDT1, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A5, COL9A1, GSDME, PJVK, DHODH, DIAPH1, DNMT1, DSPP, EDN3, EDNRA, EDNRB, EFTUD2, EIF4A3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF10, FGF3, FGFR2, FGFR3, FOXI1, FOXI3, FRAS1, FREM2, GATA3, GGPS1, GIPC3, GJB2, GJB3, GJB6, GNAI3, GPSM2, GREB1L, GRHL2, GRIP1, GRXCR1, GSC, GSDME, HAAO, HMX1, HOXA2 HSD17B4 HSPA9 ILDR1 | Epilepsie Tier 2 (ACOX1, ACTL6B, AIMP2, AKT3, ALG8, ALPL, ANKRD11, ARF1, ARFGEF1, ARID1B, ASH1L, ASPA, ASXL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6V0A1, ATP6V0C, BAP1, BOLA3, TET3, BRAF, BSCL2, CACNA1H, CCDC88C, CDC42BPB, CEP85L, CHD4, CHD5, CHRNA2, CIC, CLCN3, CLPB, CLTC, COG4, COG8, COL18A1, COL4A1, COL4A2, CPA6, CREBBP, CTU2, CUL3, CUX2, DEAF1, DHX16, DLL1, DNAJC5, DNM1L, DYNC1H1, DYRK1A, EFHC1, EFTUD2, EHMT1, EIF2AK2, EXT2, FAR1, FBXO11, FGFR3, FH, FOXG1, FRMD5, GABRB1, GABRD, GBA, GCH1, GFAP, GLI3, GLRA1, GLS, GLUD1, GNB1, GPHN, GRIA2, GRN) | Molecular Diagnostics / PCR |
| (ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PODXL, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, XPO5) | (ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PODXL, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, XPO5) | Molecular Diagnostics / PCR |
| (ACVR2B, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP300, CFAP45, CFAP52, CFAP53, CFC1, CFTR, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC56, MCIDAS, MMP21, MNS1, NEK10, NME8, NODAL, ODAD1, ODAD2, ODAD3, ODAD4, PKD1L1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TP73, TTC12, ZIC3, ZMYND10 ); SNV, CNV | (ACVR2B, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP300, CFAP45, CFAP52, CFAP53, CFC1, CFTR, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC56, MCIDAS, MMP21, MNS1, NEK10, NME8, NODAL, ODAD1, ODAD2, ODAD3, ODAD4, PKD1L1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TP73, TTC12, ZIC3, ZMYND10 ); SNV, CNV | Molecular Diagnostics / PCR |
| (ADNP, AHDC1, ALG13, ANKRD11, ARID1B, ASXL1, ASXL3, AUTS2, BCL11A, BRAF, CASK, CDK13, CDKL5, CHAMP1, CHD2, CHD4, CHD8, CNKSR2, CNOT3, COL4A3BP, CREBBP, CSNK2A1, CTCF, CTNNB1, DDX3X, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EP300, FOXG1, FOXP1, GABRB3, GATAD2B, GNAI1, GNAO1, GRIN2B, HDAC8, HNRNPU, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNH1, KCNQ2, KCNQ3, KDM5B, KIF1A, KMT2A, KMT5B, MECP2, MED13L, MEF2C, MSL3, MYT1L, NAA10, NFIX, NSD1, PACS1, PDHA1, POGZ, PPM1D, PPP2R1A, PPP2R5D, PTEN, PTPN11, PUF60, PURA, QRICH1, SATB2, SCN1A, SCN2A, SCN8A, SET, SETD5, SLC35A2, SLC6A1, SMAD4, SMC1A, SYNGAP1, TBL1XR1, TCF20, TCF4, TRIO, USP9X, WAC, WDR45, ZBTB18, ZC4H2, ZMYND11) | (ADNP, AHDC1, ALG13, ANKRD11, ARID1B, ASXL1, ASXL3, AUTS2, BCL11A, BRAF, CASK, CDK13, CDKL5, CHAMP1, CHD2, CHD4, CHD8, CNKSR2, CNOT3, COL4A3BP, CREBBP, CSNK2A1, CTCF, CTNNB1, DDX3X, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EP300, FOXG1, FOXP1, GABRB3, GATAD2B, GNAI1, GNAO1, GRIN2B, HDAC8, HNRNPU, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNH1, KCNQ2, KCNQ3, KDM5B, KIF1A, KMT2A, KMT5B, MECP2, MED13L, MEF2C, MSL3, MYT1L, NAA10, NFIX, NSD1, PACS1, PDHA1, POGZ, PPM1D, PPP2R1A, PPP2R5D, PTEN, PTPN11, PUF60, PURA, QRICH1, SATB2, SCN1A, SCN2A, SCN8A, SET, SETD5, SLC35A2, SLC6A1, SMAD4, SMC1A, SYNGAP1, TBL1XR1, TCF20, TCF4, TRIO, USP9X, WAC, WDR45, ZBTB18, ZC4H2, ZMYND11) | Molecular Diagnostics / PCR |
| (ALK, APC, AR, ARAF, ARID1A, ATM, ATR, AURKA, BAP1, BCL2L11, BRAF, BRCA1, BRCA2, CCND1, CCNE1, CD274, CDK12, CDK4, CDK6, CDKN2A, CDKN2B, CREBBP, CTNNB1, DDR2, EGFR, EIF1AX, EPAS1, EPCAM, ERBB2, ERBB3, ERBB4, ESR1, ETS2, FANCA, FBXW7, FGF19, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FLCN, FLT3, GNAS, HIF1A, HRAS, IDH1, IDH2, IGF1R, JAK1, JAK2, JAK3, KDM5C, KDR, KIT, KRAS, MAP2K1, MAPK1, MET, MLH1, MRE11, MSH2, MSH6, MTOR, MYC, NF1, NF2, NOTCH1, NRAS, NRG1, NTRK1, NTRK2, NTRK3, PALB2, PAX5, PDCD1, PDGFRA, PGR, PIK3CA, PIK3R1, PMS2, POLD1, POLE, PSMD4, PTCH1, PTEN, RAF1, RASA1, RASAL1, RB1, RET, RICTOR, RIT1, ROS1, RSF1, SF3B1, SMAD4, SMARCA4, SMO, STK11, TERT, TOP2A, TP53, TSC1, TSC2, TSHR, VHL) | (ALK, APC, AR, ARAF, ARID1A, ATM, ATR, AURKA, BAP1, BCL2L11, BRAF, BRCA1, BRCA2, CCND1, CCNE1, CD274, CDK12, CDK4, CDK6, CDKN2A, CDKN2B, CREBBP, CTNNB1, DDR2, EGFR, EIF1AX, EPAS1, EPCAM, ERBB2, ERBB3, ERBB4, ESR1, ETS2, FANCA, FBXW7, FGF19, FGF3, FGFR1, FGFR2, FGFR3, FGFR4, FLCN, FLT3, GNAS, HIF1A, HRAS, IDH1, IDH2, IGF1R, JAK1, JAK2, JAK3, KDM5C, KDR, KIT, KRAS, MAP2K1, MAPK1, MET, MLH1, MRE11, MSH2, MSH6, MTOR, MYC, NF1, NF2, NOTCH1, NRAS, NRG1, NTRK1, NTRK2, NTRK3, PALB2, PAX5, PDCD1, PDGFRA, PGR, PIK3CA, PIK3R1, PMS2, POLD1, POLE, PSMD4, PTCH1, PTEN, RAF1, RASA1, RASAL1, RB1, RET, RICTOR, RIT1, ROS1, RSF1, SF3B1, SMAD4, SMARCA4, SMO, STK11, TERT, TOP2A, TP53, TSC1, TSC2, TSHR, VHL) | Molecular Diagnostics / PCR |
| (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, AKT1, APC, BLM, CDKN1B, CDKN2A, CTNNA1, DDB2, DICER1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FH, MAP2K1, MUTYH, NTHL1, POLD1, POLE, POLH, PTCH1, PTPN11, SLX4, SMARCA4, SMARCB1, SUFU, TOP3A, TRIM37, UBE2T, WRN, WT1, XPA, XPC, XRCC2); SNV, CNV | (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, AKT1, APC, BLM, CDKN1B, CDKN2A, CTNNA1, DDB2, DICER1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FH, MAP2K1, MUTYH, NTHL1, POLD1, POLE, POLH, PTCH1, PTPN11, SLX4, SMARCA4, SMARCB1, SUFU, TOP3A, TRIM37, UBE2T, WRN, WT1, XPA, XPC, XRCC2); SNV, CNV | Molecular Diagnostics / PCR |
| (BRCA1, BRCA2, AR, ATM, ATR, BARD1, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RADS54L, STK11, TP53, BRAF, HER2, KRAS, NRAS, PIK3CA) | (BRCA1, BRCA2, AR, ATM, ATR, BARD1, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RADS54L, STK11, TP53, BRAF, HER2, KRAS, NRAS, PIK3CA) | Molecular Diagnostics / PCR |
| (COPB2, MBTPS2, NUDT6, SGMS2, SUCO ); SNV, CNV | (COPB2, MBTPS2, NUDT6, SGMS2, SUCO ); SNV, CNV | Molecular Diagnostics / PCR |
| (DFNA5), HARS, HGF, HOMER2, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MTCO1, MTND1, MTRNR1, MTTH, MTTI, MTTL1, MTTS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7 | (DFNA5), HARS, HGF, HOMER2, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MTCO1, MTND1, MTRNR1, MTTH, MTTI, MTTL1, MTTS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7 | Molecular Diagnostics / PCR |
| (EPCAM, MLH1, MSH2, MSH6, PMS2, BAP1, MUTYH, NTHL1, NF1, SMARCA4, SMARCB1, STK11, TP53, FH); SNV CNV | (EPCAM, MLH1, MSH2, MSH6, PMS2, BAP1, MUTYH, NTHL1, NF1, SMARCA4, SMARCB1, STK11, TP53, FH); SNV CNV | Molecular Diagnostics / PCR |
| (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNA, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRAP53, XPA, XPC, ZMPSTE24 | EYA1, FAM126A, FOXC1, FOXE3, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GJA3, GJA8, GLA, HMX1, HSF4, JAM3, LEMD2, LIM2, LONP1, LSS, LTBP2, MAF, MIP, MIR184, MYH9, NDP, NHS, OCRL, OPA3, P3H2, PAX6, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2, RECQL4, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TMEM114, UNC45B, VIM, VSX2, WFS1 | Molecular Diagnostics / PCR |
| (GJB2 ) | Schwerhörigkeit (GJB2) | Molecular Diagnostics / PCR |
| (GJB2, GJB6 ); SNV, CNV | (GJB2, GJB6 ); SNV, CNV | Molecular Diagnostics / PCR |
| (PDE1C, PDZD7, PEX1, PEX6, PHYH, PJVK, PLS1, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, RNF220, ROR1, S1PR2, SALL1, SCD5, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK, USH1C, USH1G, USH2A, VIPAS39, VPS33B, WBP2, WFS1, WHRN) | (PDE1C, PDZD7, PEX1, PEX6, PHYH, PJVK, PLS1, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, RNF220, ROR1, S1PR2, SALL1, SCD5, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK, USH1C, USH1G, USH2A, VIPAS39, VPS33B, WBP2, WFS1, WHRN) | Molecular Diagnostics / PCR |
| (SPG4), SPG7, ABCD1, ACP33, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CCT5, CPT1C, CYP2U1, DDHD1, DDHD2, DNM2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAM134B, FARS2, FLRT1, FUS, GAD1, GBA2, GJC2, GRID2, IBA57, IFIH1, WASHC5 (SPG8), KIF1C, KLC2, KLC4, L1CAM, LYST, MAG, MARS2, NIPA1, NT5C2, PGAP1, PLP1, PMCA4, PNPLA6, RAB3GAP2, REEP2, RNASEH2B, RTN2, SETX, SLC16A2, SLC33A1, SOD1, SOX10, SPG20, TARDBP, TECPR2, TFG, TUBB4A, USP8, VAMP1, VCP, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27, ATP13A2, UCHL1, CAPN1, DSTYK, GPT2, HACE1, VCP, SACS, VAMP1, AFG3L2, MARS2, , ABCD1, SETX, OPTN, FUS, TARDBP, SOX10, NKX6-2, KCNA1, KIDINS220, UBAP1, AGTPBP1, SLC2A1 , PLA2G6 | (SPG4), SPG7, ABCD1, ACP33, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CCT5, CPT1C, CYP2U1, DDHD1, DDHD2, DNM2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAM134B, FARS2, FLRT1, FUS, GAD1, GBA2, GJC2, GRID2, IBA57, IFIH1, WASHC5 (SPG8), KIF1C, KLC2, KLC4, L1CAM, LYST, MAG, MARS2, NIPA1, NT5C2, PGAP1, PLP1, PMCA4, PNPLA6, RAB3GAP2, REEP2, RNASEH2B, RTN2, SETX, SLC16A2, SLC33A1, SOD1, SOX10, SPG20, TARDBP, TECPR2, TFG, TUBB4A, USP8, VAMP1, VCP, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27, ATP13A2, UCHL1, CAPN1, DSTYK, GPT2, HACE1, VCP, SACS, VAMP1, AFG3L2, MARS2, , ABCD1, SETX, OPTN, FUS, TARDBP, SOX10, NKX6-2, KCNA1, KIDINS220, UBAP1, AGTPBP1, SLC2A1 , PLA2G6 | Molecular Diagnostics / PCR |
| (USH1C, USH1G, USH2A, USP48, WFS1, WHRN, ABCC1, ACOX1, ATP11A, ATP2B2, BTD, CACNA1D, CCDC50, CEMIP, CLIC5, CLRN2, COG4, COL4A6, COL9A2, COL9A3, CRLS1, CRYM, DCDC2, DIABLO, DIAPH3, DMXL2, DNAJC3, ELMOD3, ESRP1, FOXF2, GDF6, GRXCR2, HARS2, HGF, HOMER2, KDM3B, KITLG, LETM1, MCM2, MET, MIR96, MORC2, NARS2, OXR1, PDSS1, PMP22, PPIP5K2, RIPOR2, ROR1, RPS28, SIX5, SLC26A5, SLC44A4, SNAI2, SPATC1L, SPNS2, SPTBN4, STX4, STXBP3, THOC1, TJP2, TMEM132E, TMTC2, TNC, TOP2B, TSPEAR, TUBB4B, WBP2, YARS1, MAN2B1, ANKH, ARSG, CDKN1C, EXOSC2, IARS2, MANBA, PEX1, PEX6, PEX26, PHYH, PSIP1, SGO2, TWNK, TYR); | 5, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, NSD1, PTPN11, RAF1, RIT1, SHOC2, SOS1, TAB2, TBX1, TBX20, TBX5, TGFBR1, TGFBR2, ZEB2, ARID1A, ASXL1, BCOR, BRAF, CDK13, CFC1, CHD4, CREBBP, EHMT1, EP300, EVC, EVC2, FLT4, HRAS, KDR, LZTR1, MRAS, NF1, PPP1CB, PRKD1, RAI1, RBFOX2, RRAS2, SALL1, SETBP1, SLC2A10, SOS2, TRAF7, ACVR2B, CITED2, CRELD1, GATA5, MEIS2, MYH6, NKX2-6, SMAD6, TLL1, ZFPM2, ZIC3, ABCC9, ADAMTS10, ADAMTS19, ADNP, AFF4, ALX3, ARHGAP31, ARID1B, ASXL2, ATRX, B3GALT6, B3GAT3, BMP2, CCDC22, CFAP53, CHST3, COL1A2, CSNK2A1, DAND5, DCHS1, DDX11, DLL4, DOCK6, DOHH, DVL3, | Molecular Diagnostics / PCR |
| AARS1, AIFM1, ARHGEF10, ATP1A1, ATP7A, BSCL2, CADM3, CNTNAP1, COQ7, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, POLR3B, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTAN1, SPTLC1, SURF1, SYT2, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1 | AARS1, AIFM1, ARHGEF10, ATP1A1, ATP7A, BSCL2, CADM3, CNTNAP1, COQ7, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, POLR3B, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTAN1, SPTLC1, SURF1, SYT2, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1 | Molecular Diagnostics / PCR |
| ABCC9, ACTA1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1,CASQ2, CAV3, CSRP3, DES, DSG2, DSP, DTNA, EMD, GLA, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NEXN, NKX2-5, PKP2, PLN, PRKAG2, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, VCL | ABCC9, ACTA1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1,CASQ2, CAV3, CSRP3, DES, DSG2, DSP, DTNA, EMD, GLA, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NEXN, NKX2-5, PKP2, PLN, PRKAG2, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, VCL | Molecular Diagnostics / PCR |
| AKT1, AKT3, ANKH, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, EED, EXT2, EZH2, GFAP, GJA1, GLI3, GPC3, H19, HACE1, HEPACAM, HUWE1, KCNQ1OT1, KIF7, KPTN, L1CAM, MED12, MLC1, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF125, RNF135, SETD2, SHANK3, STRADA, SUZ12, TBC1D7, ZNF469, HIST1H1E, ASPA, KIDINS220, MSL3, BMP4, BRAF, DEPDC5, FIBP, FOXP1, HRAS, KRAS, MAP2K1, MAP2K2, MYCN, NFIA, NFIB, NOTCH2NL, NRAS, ODC1, PTCH1, PTPN11, RAF1, RHEB, ROR2, SHOC2, SOS1, SPRED1, SUFU, SZT2, TSC1, TSC2, ZBTB20 | AKT1, AKT3, ANKH, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, EED, EXT2, EZH2, GFAP, GJA1, GLI3, GPC3, H19, HACE1, HEPACAM, HUWE1, KCNQ1OT1, KIF7, KPTN, L1CAM, MED12, MLC1, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF125, RNF135, SETD2, SHANK3, STRADA, SUZ12, TBC1D7, ZNF469, HIST1H1E, ASPA, KIDINS220, MSL3, BMP4, BRAF, DEPDC5, FIBP, FOXP1, HRAS, KRAS, MAP2K1, MAP2K2, MYCN, NFIA, NFIB, NOTCH2NL, NRAS, ODC1, PTCH1, PTPN11, RAF1, RHEB, ROR2, SHOC2, SOS1, SPRED1, SUFU, SZT2, TSC1, TSC2, ZBTB20 | Molecular Diagnostics / PCR |
| Aicardi-Goutières-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 ); SNV, CNV | Aicardi-Goutières-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 ); SNV, CNV | Molecular Diagnostics / PCR |
| Angeborene Herzfehler nicht | Angeborene Herzfehler nicht | Molecular Diagnostics / PCR |
| Anlageträgerschaften (z.B. ABCC8, BRCA1, BRCA2, BRPF1, DARS2, DICER1, FIG4, MYBPC3, NCDN, NONO, PTPN11, TNNT2 ) | Anlageträgerschaften (z.B. ABCC8, BRCA1, BRCA2, BRPF1, DARS2, DICER1, FIG4, MYBPC3, NCDN, NONO, PTPN11, TNNT2 ) | Molecular Diagnostics / PCR |
| Autismus Tier 1(RAB39B, RANBP17, RELN, RIMS1, RPL10, SCN8A, SCN9A, SETD1B, SHANK2, SHROOM4, SLC6A1, SLC6A4, SLC9A9, SMARCA1, SMARCC2, SOBP, SPAST, SRCAP, SRSF11, ST3GAL3, SYP, TAOK2, TBL1XR1, TCF20, TECR, TMLHE, TNRC6B, TRIO, TSC1, TSC2, TSPAN7, UBN2, UPF3B, USP15, USP27X, USP7, WAC, WDFY3, ZC3H14, ZDHHC15, ZNF41, ZNF674, ZNF81 ); SNV, CNV | GLA, GLE1, GM2A, GNAL, GNAO1, GOSR2, GRID2, GRM1, GRN, HEPACAM, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSD17B4, HTRA1, HTRA2, ITPR1, KCNA1, KCNC3, KCND3, KIAA0226, KIF1C, KIF5A, KMT2B, L2HGDH, LMNB1, LRRK2, MAPT, MARS2, MATR3, MLC1, MRE11A, MTND1, MTND5, MTND6, MTPAP, MTTC, MTTF, MTTH, MTTK, MTTL1, MTTQ, MTTS1, MTTS2, NEFH | Molecular Diagnostics / PCR |
| Blasen- und Harnleiterkrebs | Blasen- und Harnleiterkrebs | Molecular Diagnostics / PCR |
| Brust- und Eierstockkrebs | Familiärer Brust- und Eierstockkrebs | Molecular Diagnostics / PCR |
| CHARGE-Syndrom (CHD7 ); SNV, CNV | CHARGE-Syndrom (CHD7 ); SNV, CNV | Molecular Diagnostics / PCR |
| CNV | FMR1 [OMIM*309550], AFF2 [OMIM*300806]; SNV, CNV | Molecular Diagnostics / PCR |
| CYP2C9*2 (rs1799853) und | CYP2C9*2 (rs1799853) und | Molecular Diagnostics / PCR |
| Coffin-Siris-Syndrom (ARID1A, ARID1B, BICRA, HDAC8, NIPBL, PHF6, PIGV, RAD21, SMARCA2, SMARCA4, SMC3, TBC1D24 ); SNV, CNV | Coffin-Siris-Syndrom (ARID1A, ARID1B, BICRA, HDAC8, NIPBL, PHF6, PIGV, RAD21, SMARCA2, SMARCA4, SMC3, TBC1D24 ); SNV, CNV | Molecular Diagnostics / PCR |
| Cornelia de Lange Syndrom | Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Molecular Diagnostics / PCR |
| DCM (ACTC1, MYH6, NKX2-5, ACTN2, BAG3, CDH2, DES, DMD, DOLK, DSC2, DSP, JUP, LAMP2, LMNA, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL, EPG5, WWTR1, TBX20, ABCC9, GATA6, TAB2, TBX5, RAF1, ANK2, ANKRD1, CRYAB, FKRP, FKTN, FLII, JPH2, LDB3, MYLK3, MYPN, NRAP, PRDM16, RHBDF1, RPL3L, RRAGC, RRAGD, SCN1B, SGCD, SLC6A6, SPEG, TCAP, CSRP3, FLNC, MYL2, RYR2, TTR, CTF1, DTNA, EYA4, GATAD1, IDH2, ILK, LAMA4, NEBL, PLEKHM2, PSEN1); SNV, CNV | NBN, RAD50, DDX11, BLM, FANCD2, LIG4, NHEJ1, PCNA, PPM1D, XRCC4, ANKLE2, ARX, ASPM, ATR, ATRIP, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, MCPH1, MFSD2A, NIN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNT, PHC1, PHF6, PHF9, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC9, ZNF335 | Molecular Diagnostics / PCR |
| Endometriumkarzinom (FH, MLH1, MSH2, MSH6, PMS2, PTEN, EPCAM, MUTYH, NTHL1, POLD1, POLE, SMAD4 ); SNV, CNV | Endometriumkarzinom (FH, MLH1, MSH2, MSH6, PMS2, PTEN, EPCAM, MUTYH, NTHL1, POLD1, POLE, SMAD4 ); SNV, CNV | Molecular Diagnostics / PCR |
| Epilepsie Tier 2 (H3-3A, H3-3B, HEPACAM, HNRNPR, HRAS, HSPD1, IFIH1, IRF2BPL, KAT5, KAT8, KCNA1, KCNA2, KCNH1, KCNH5, KCNJ11, KCNK4, KCNMA1, KCNQ5, KIF1A, KIF2A, KIF5C, KMT2E, KRAS, LMBRD2, LMNB1, MACF1, MAF, MAP2K1, MAP2K2, MAST1, MBD5, MINPP1, MTHFR, MTOR, NARS1, NBEA, NCDN, NDE1, NEDD4L, NEUROD2, NR4A2, NSD1, NSF, OTX2, PAFAH1B1, PEX6, PIGT, PIK3R2, PNPT1, POLG2, PPP2CA, PPP3CA, PRODH, PRPF8, PSAP, PTEN, PUM1, PURA, RAB11B, RALA, RANBP2, RELN, RNF13, RNF2, RORA, RORB, RRM2B, RYR2, SAMHD1, SATB1, SATB2, SCO1, SCO2, SDHA, SERPINI1, SETBP1, SETD5, SGSH, SIX3, SLC12A5, SLC2A1, SLC6A1, SMARCA2, SMARCC2, SNAP25, SPTAN1, SPTBN1, STAG1, STARD7, SYNGAP1) | Epilepsie Tier 2 (H3-3A, H3-3B, HEPACAM, HNRNPR, HRAS, HSPD1, IFIH1, IRF2BPL, KAT5, KAT8, KCNA1, KCNA2, KCNH1, KCNH5, KCNJ11, KCNK4, KCNMA1, KCNQ5, KIF1A, KIF2A, KIF5C, KMT2E, KRAS, LMBRD2, LMNB1, MACF1, MAF, MAP2K1, MAP2K2, MAST1, MBD5, MINPP1, MTHFR, MTOR, NARS1, NBEA, NCDN, NDE1, NEDD4L, NEUROD2, NR4A2, NSD1, NSF, OTX2, PAFAH1B1, PEX6, PIGT, PIK3R2, PNPT1, POLG2, PPP2CA, PPP3CA, PRODH, PRPF8, PSAP, PTEN, PUM1, PURA, RAB11B, RALA, RANBP2, RELN, RNF13, RNF2, RORA, RORB, RRM2B, RYR2, SAMHD1, SATB1, SATB2, SCO1, SCO2, SDHA, SERPINI1, SETBP1, SETD5, SGSH, SIX3, SLC12A5, SLC2A1, SLC6A1, SMARCA2, SMARCC2, SNAP25, SPTAN1, SPTBN1, STAG1, STARD7, SYNGAP1) | Molecular Diagnostics / PCR |
| Epilepsie Tier 2 (HACE1, HAX1, HERC2, HEXA, HEXB, HID1, HLCS, HMGCL, HOXA1, HPDL, HSD17B4, HTRA2, IER3IP1, KARS1, KATNB1, KCNJ10, KIFBP, KPTN, LARGE1, LARS1, LIAS, LIPT1, LIPT2, LMAN2L, LNPK, LSS, LYST, MADD, MAGI2, MANBA, MBOAT7, MED17, MED27, MFF, MFSD8, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTR, NAGA, NARS2, NDUFA10, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NGLY1, NRXN1, NSRP1, NUBPL, NUP214, OCLN, OGDHL, OTUD6B, OXR1, P4HTM, PAH, PCCA, PCCB, PCDH12, PCDHGC4, PCLO, PCYT2, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12 PEX13 PEX19 PEX2 PEX3) | Epilepsie Tier 2 (HACE1, HAX1, HERC2, HEXA, HEXB, HID1, HLCS, HMGCL, HOXA1, HPDL, HSD17B4, HTRA2, IER3IP1, KARS1, KATNB1, KCNJ10, KIFBP, KPTN, LARGE1, LARS1, LIAS, LIPT1, LIPT2, LMAN2L, LNPK, LSS, LYST, MADD, MAGI2, MANBA, MBOAT7, MED17, MED27, MFF, MFSD8, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTR, NAGA, NARS2, NDUFA10, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NGLY1, NRXN1, NSRP1, NUBPL, NUP214, OCLN, OGDHL, OTUD6B, OXR1, P4HTM, PAH, PCCA, PCCB, PCDH12, PCDHGC4, PCLO, PCYT2, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12 PEX13 PEX19 PEX2 PEX3) | Molecular Diagnostics / PCR |
| Erbliche Blutungserkrankungen | Erbliche Blutungserkrankungen | Molecular Diagnostics / PCR |
| Fiebersyndrome (Panel) (ADA2, ANGPT1, CARD14, ELANE, F12, HS3ST6, IL1RN, IL36RN, KNG1, LACC1, LPIN2, MEFV, MVK, MYOF, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PLG, PSMB8, PSTPIP1, RBCK1, RIPK1, SERPING1, STING1, TNFAIP3, TNFRSF1A, WDR1) | Fiebersyndrome (Panel) (ADA2, ANGPT1, CARD14, ELANE, F12, HS3ST6, IL1RN, IL36RN, KNG1, LACC1, LPIN2, MEFV, MVK, MYOF, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PLG, PSMB8, PSTPIP1, RBCK1, RIPK1, SERPING1, STING1, TNFAIP3, TNFRSF1A, WDR1) | Molecular Diagnostics / PCR |
| GLI3, HOXD13, SRCAP, TWIST1 | GLI3, HOXD13, SRCAP, TWIST1 | Molecular Diagnostics / PCR |
| HPO Terms; SNV, CNV | HPO Terms; SNV, CNV | Molecular Diagnostics / PCR |
| Hereditäres Phäochromozytom | Hereditäres Phäochromozytom | Molecular Diagnostics / PCR |
| Joubert-Syndrom (AHI1, AIPL1, ARL13B, ARL6, ARMC9, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP104, CEP290, CEP41, CPLANE1, CRB1, CRX, CSPP1, GUCY2D, HYLS1, IFT140, IFT172, IFT27, IFT74, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0586, KIAA0753, KIF7, LCA5, LRAT, LZTFL1, MERTK, MKS1, NMNAT1, NPHP1, NPHP3, NPHP4, OFD1, PIBF1, RD3, RDH12, RPE65, RPGRIP1, RPGRIP1L, SDCCAG8, SPATA7, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TTC21B, TTC8, TUBB4B, TULP1, TXNDC15, USP45 ); SNV, CNV | Joubert-Syndrom (AHI1, AIPL1, ARL13B, ARL6, ARMC9, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP104, CEP290, CEP41, CPLANE1, CRB1, CRX, CSPP1, GUCY2D, HYLS1, IFT140, IFT172, IFT27, IFT74, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0586, KIAA0753, KIF7, LCA5, LRAT, LZTFL1, MERTK, MKS1, NMNAT1, NPHP1, NPHP3, NPHP4, OFD1, PIBF1, RD3, RDH12, RPE65, RPGRIP1, RPGRIP1L, SDCCAG8, SPATA7, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TTC21B, TTC8, TUBB4B, TULP1, TXNDC15, USP45 ); SNV, CNV | Molecular Diagnostics / PCR |
| KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KDM6A, KIT, KMT2D, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MARVELD2, MASP1, MITF, MN1, MPZL2, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OFD1, OGDHL, OPA1, ORC1, ORC4, ORC6, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, P2RX2, PAX2, PAX3, PBX1, PCDH15, PDZD7, PJVK, PLCB4, PLS1, PNPT1, POLR1A, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RNF220, S1PR2, SALL1, SALL4, SERAC1, SERPINB6, SF3B4, SGPL1, SIX1, SLC12A2, SLC17A8, SLC26A4, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMPX, SOX10, SOX2, SPATA5, SPATA5L1, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP | KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KDM6A, KIT, KMT2D, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MARVELD2, MASP1, MITF, MN1, MPZL2, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OFD1, OGDHL, OPA1, ORC1, ORC4, ORC6, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, P2RX2, PAX2, PAX3, PBX1, PCDH15, PDZD7, PJVK, PLCB4, PLS1, PNPT1, POLR1A, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RNF220, S1PR2, SALL1, SALL4, SERAC1, SERPINB6, SF3B4, SGPL1, SIX1, SLC12A2, SLC17A8, SLC26A4, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMPX, SOX10, SOX2, SPATA5, SPATA5L1, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP | Molecular Diagnostics / PCR |
| KCNJ6, ANO6, CAV1, LMNA, PIK3R1, POLD1, PYCR1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | KCNJ6, ANO6, CAV1, LMNA, PIK3R1, POLD1, PYCR1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Kabuki-Syndrom (CHD7, EYA1, FLNB, IRF6, KDM6A, KMT2D, SIX1, SIX5 ); SNV, CNV | Kabuki-Syndrom (CHD7, EYA1, FLNB, IRF6, KDM6A, KMT2D, SIX1, SIX5 ); SNV, CNV | Molecular Diagnostics / PCR |
| Kardiomyopathien (ABCC9, ACTC1, ACTN2, BAG3, CDH2, CSRP3, DES, DMD, DOLK, DSC2, DSP, EPG5, FKTN, FLNC, IDH2, MYL3, JUP, LAMP2, PKP2, LMNA, MYBPC3, MYH7, MYL2, NEXN, NKX2-5, PLN, RBM20, SCN5A, WWTR1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, GLA, GUSB, IDUA, PLD1, TGFB2, NONO, ALPK3, CACNA1C, CALM1, CALM2, CALM3, CASQ2, EMD, FHL1, FHOD3, GLRA1, HCN4, KCNE1, KCNH2, KCNJ2, KCNQ1, PHOX2B, PRKAG2, TRIM63, TSPYL1, AARS2, ACAD9, ACADVL, ACTA1, AGK, ALMS1, COA5, COA6, COX10, COX15, CPT2, DNAJC19, FXN, GAA, HADHA, HADHB, LMOD2, MLYCD, MRPL44, MMUT, NDUFA11, NDUFA2, NDUFAF1, NDUFB11, NDUFS2, NDUFS8, | Tumor (Panel) ( MAP3K1, MAX, MBD4, MDH2, MDM2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, NBN, NDUFA13, NF1, NF2, NKX2-1, NOTCH3, NRG1, NTHL1, NTRK1, PALB2, PAX3, PBRM1, PDGFRA, PHOX2B, PIK3CA, PIK3R1, PKD2, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RAD54L, RB1, RECQL4, REST, RET, RHBDF2, RINT1, RNF43, RPS20, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRGAP1, STK11, SUFU, TERF2IP, TERT, TINF2, TMEM127, TP53, TRIM28, TSC1, TSC2, UBE2T, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2) | Molecular Diagnostics / PCR |
| LMNA, POLD1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNB1,LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRAP53, WRN, XPA, XPC | LMNA, POLD1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNB1,LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRAP53, WRN, XPA, XPC | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (COL3A1, IPO8, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 ); SNV, CNV | Loeys-Dietz-Syndrom (COL3A1, IPO8, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 ); SNV, CNV | Molecular Diagnostics / PCR |
| Long_QT (SCN5A, KCNQ1, CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, TRDN, ANK2, KCNE2, KCNJ5, SCN4B, SNTA1, TECRL); SNV, CNV | Long_QT (SCN5A, KCNQ1, CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, TRDN, ANK2, KCNE2, KCNJ5, SCN4B, SNTA1, TECRL); SNV, CNV | Molecular Diagnostics / PCR |
| Lynch-Syndrom (MLH1, PMS2, MSH6, MSH2, EPCAM ); SNV, CNV | Lynch-Syndrom (MLH1, PMS2, MSH6, MSH2, EPCAM ); SNV, CNV | Molecular Diagnostics / PCR |
| Magenkrebs (AAGAB, APC, ATM, BLM, BMPR1A, BRCA2, BUB1, BUB1B, BUB3, CASP10, CDH1, CDKN2A, CEP57, CHEK2, COL14A1, ERBB2, FGFR2, IL1B, IL1RN, IRF1, KLF6, KRAS, MDM2, MSH3, MUTYH, PIK3CA, POLD1, POLE, RPS20, SEMA4A, STK11, TP53, TRIP13, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PDGFRA, PMS2, PTPN11, SMAD4 ); SNV, CNV | Magenkrebs (AAGAB, APC, ATM, BLM, BMPR1A, BRCA2, BUB1, BUB1B, BUB3, CASP10, CDH1, CDKN2A, CEP57, CHEK2, COL14A1, ERBB2, FGFR2, IL1B, IL1RN, IRF1, KLF6, KRAS, MDM2, MSH3, MUTYH, PIK3CA, POLD1, POLE, RPS20, SEMA4A, STK11, TP53, TRIP13, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PDGFRA, PMS2, PTPN11, SMAD4 ); SNV, CNV | Molecular Diagnostics / PCR |
| Medulloblastom (APC, BRCA2, DICER1, ELP1, GPR161, PALB2, PTCH1, RET, SEC23B, SUFU, TP53, GPC3, NBN ); SNV, CNV | Medulloblastom (APC, BRCA2, DICER1, ELP1, GPR161, PALB2, PTCH1, RET, SEC23B, SUFU, TP53, GPC3, NBN ); SNV, CNV | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie | Multiple Endokrine Neoplasie | Molecular Diagnostics / PCR |
| Neurofibromatose / | Neurofibromatose / | Molecular Diagnostics / PCR |
| Noonan Syndrom/RASopathie | Noonan Syndrom/RASopathie | Molecular Diagnostics / PCR |
| Okulärer und okulokutaner | Okulärer und okulokutaner | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta Tier 1 | Osteogenesis imperfecta Tier 1 | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta Tier 2 | Osteogenesis imperfecta Tier 2 | Molecular Diagnostics / PCR |
| PALB2, PARN, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RAF1, RB1, RECQL4, REST, RET, RIT1, RMRP, RNF43, RPA1, RPL11, RPL15, RPL23, RPL26, RPL31, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SOS1, STK11, STN1, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIM37, TRIP13, TSC1, TSC2, UBE2T, VHL, WRAP53, | PALB2, PARN, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RAF1, RB1, RECQL4, REST, RET, RIT1, RMRP, RNF43, RPA1, RPL11, RPL15, RPL23, RPL26, RPL31, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SOS1, STK11, STN1, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIM37, TRIP13, TSC1, TSC2, UBE2T, VHL, WRAP53, | Molecular Diagnostics / PCR |
| PCCA, PCCB, PPCS, PPP1R13L, SCO1, SCO2, SLC22A5, SLC25A20, SLC25A4, TMEM70, TSFM, ANK2, ANKRD1, CAV3, CRYAB, EYA4, FKRP, FLII, GATA6, JPH2, LDB3, MYH6, MYLK3, MYPN, NRAP, PRDM16, TGFB3, RAF1, RHBDF1, RPL3L, RRAGC, RRAGD, RYR2, SCN1B, SGCD, SLC6A6, SPEG, TAB2, TBX20, TBX5, TCAP, BMPR2, NAA10, NAA15, RASA2, RRAS, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, ATAD3A, CACNA2D1, CACNB2, CLCA2, GYG1, KCND3, KCNE2, KCNJ8 MT TI | PCCA, PCCB, PPCS, PPP1R13L, SCO1, SCO2, SLC22A5, SLC25A20, SLC25A4, TMEM70, TSFM, ANK2, ANKRD1, CAV3, CRYAB, EYA4, FKRP, FLII, GATA6, JPH2, LDB3, MYH6, MYLK3, MYPN, NRAP, PRDM16, TGFB3, RAF1, RHBDF1, RPL3L, RRAGC, RRAGD, RYR2, SCN1B, SGCD, SLC6A6, SPEG, TAB2, TBX20, TBX5, TCAP, BMPR2, NAA10, NAA15, RASA2, RRAS, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, ATAD3A, CACNA2D1, CACNB2, CLCA2, GYG1, KCND3, KCNE2, KCNJ8 MT TI | Molecular Diagnostics / PCR |
| Peutz-Jeghers Syndrom (APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PRKAR1A, PTEN, RAD51C, RAD51D, RNF43, SEC23B, SMAD4, STK11, TP53 ); SNV, CNV | Ziliopathie (Panel) ( RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, STK36, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRAPPC3, TRIM32, TTC21B, TTC8, TXNDC15, VPS13B, WDPCP, WDR19, WDR35, ZMYND10, ZNF408, ZNF423, ZSWIM6) | Molecular Diagnostics / PCR |
| Polyzystische Nierenerkrankung | Polyzystische Nierenerkrankung | Molecular Diagnostics / PCR |
| Primäre Ovarialinsuffiziens Tier | Primäre Ovarialinsuffiziens Tier | Molecular Diagnostics / PCR |
| Primäre Ziliäre Dyskinesie | Primäre ziliäre Dyskinesie | Molecular Diagnostics / PCR |
| RPS28, RPS29, RPS7, TP53, WRN | RPS28, RPS29, RPS7, TP53, WRN | Molecular Diagnostics / PCR |
| Rubenstein-Taybi-Syndrom | Rubenstein-Taybi-Syndrom | Molecular Diagnostics / PCR |
| SLC24A5, SLC45A2, TYR, TYRP1 | SLC24A5, SLC45A2, TYR, TYRP1 | Molecular Diagnostics / PCR |
| SNV CNV | SNV CNV | Molecular Diagnostics / PCR |
| SOHLH1, STAG3, TWNK, HARS2 | SOHLH1, STAG3, TWNK, HARS2 | Molecular Diagnostics / PCR |
| SUCLG2, TMEM127, TP53, VHL | SUCLG2, TMEM127, TP53, VHL | Molecular Diagnostics / PCR |
| Segregationsanalysen oder | Segregationsanalysen oder | Molecular Diagnostics / PCR |
| Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, POC1B, SDCCAG8, TRAF3IP1, WDR19 ); SNV, CNV | Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, POC1B, SDCCAG8, TRAF3IP1, WDR19 ); SNV, CNV | Molecular Diagnostics / PCR |
| Sensorineurale Schwerhörigkeit | Sensorineurale Schwerhörigkeit | Molecular Diagnostics / PCR |
| Stäbchen-Zapfen Dystrophie | Stäbchen-Zapfen Dystrophie | Molecular Diagnostics / PCR |
| Subtypen B*2702, B*2703, B*2704 | Subtypen B*2702, B*2703, B*2704 | Molecular Diagnostics / PCR |
| TGFBR2, IPO8, COL1A2, FKBP14 | TGFBR2, IPO8, COL1A2, FKBP14 | Molecular Diagnostics / PCR |
| TMEM231, TMEM67, TXNDC15 | TMEM231, TMEM67, TXNDC15 | Molecular Diagnostics / PCR |
| Therapieindikation Olaparib | Therapieindikation Olaparib | Molecular Diagnostics / PCR |
| Unklare Erkrankungen mit | Unklare Erkrankungen mit | Molecular Diagnostics / PCR |
| wahrscheinlich erblicher Ursache | wahrscheinlich erblicher Ursache | Molecular Diagnostics / PCR |
| (ABCA4, ADAM9, CFAP418, CDHR1, CERKL, CNGB3, CRX, EYS, FSCN2, GUCY2D, KCNV2, PDE6C, POC1B, PROM1, RAB28, RPE65, RPGRIP1, TULP1, DRAM2, SEMA4A, PCARE, GUCA1A, RIMS1, TTLL5, TLCD3B, PITPNM3, UNC119, RAX2, RPGR, CACNA1F, COG6, OPN1LW ); SNV, CNV | CHMP2B, DCTN1, ERBB4, FIG4, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54) | Other |
| (ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, | (ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, | Other |
| (ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CHST14, COL1A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IKZF5, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, | (Panel) (ACE, ACTN4, ADAMTS13, ADAMTS9, AGT, AGTR1, AGXT, AHI1, ALDH1A2, ALMS1, ALPL, ANKFY1, ANKS6, ANLN, APOE, APOL1, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATXN10, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BSND, C1QA, C1QB, C1QC, C2CD3, C3, C8orf37, CA2, CASR, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CDC5L, CELSR2, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFB, CFH, CFHR1, | Other |
| (BLM, ATM, EIF2B2, FANCA, FANCG, HSF2BP, NBN, RECQL4, WRN, ACAD9, ACSL6, ADAMTS19, AGTR2, AIFM1, AIRE, AKT1, ALOX12B, ANKRD22, ANKRD31, AR, BAX, BCKDHB, BCORL1, BHLHB9, BNC1, BRCA2, BRSK1, CARD11, CCBE1, CCNH, CHM, CITED2, COX10, CPEB1, VCAN, CTNNA3, CYP2E1, DAZL, DHFR, DLX5, DLX6, DMC1, DNAH5, SEM1, DUSP22, ERCC6, ESR1, EXO1, FANCL, AFF2, FOXO1, FOXO3, GJA1, GNAS, HAO2, HK3, HSD3B2, INHA, LAMC1, LHB, LHCGR, MEF2C, MRPS22, NAIP, NR2F1, NRXN1, NUPR1, NXF5, PRKN, PCDH19, PCMT1, PMAIP1, PMM1, POR, PRDM9, PTEN, BBS9, RAD51, SF1, SHOX, SPATA22, SPIDR, SSBP2, STAMBPL1, STAR, STS, TGFBR3, TP63, TSPAN7, UTP14A, VCX, WDR62, WNT4, WT1, XIST, XPNPEP2, XRCC2, YBX2, ZFX ); SNV, | CSRP3, DES, DMD, DOLK, DSC2, EMD, FHL1, FHOD3, FLNC, GLA, GLRA1, GNB5, HCN4, JUP, KCNE1, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, NEXN, NKX2-5, PHOX2B, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TSPYL1, TTN, TTR, VCL, ABCC9, AKAP9, ANK2, ANKRD1, ATAD3A, CACNA2D1, CACNB2, CLCA2, CRYAB, FKRP, FKTN, FLII, GATA6, GPD1L, GYG1, JPH2, KCND3, KCNE2, KCNE3, KCNJ5, KCNJ8, LDB3, MT-TI, MYH6, MYLK2, MYLK3, MYPN, NRAP, PPA2, PRDM16, RHBDF1, RPL3L, RPS6KB1, RRAGC, RRAGD, SCN1B, SCN2B, SCN3B, SCN4B, SGCD, SLC4A3, SLC6A6, SNTA1, SPEG, TAB2, TANGO2, TBX20, TBX5, TCAP, TECRL, TRDN, TRPM4, TULP3); SNV CNV | Other |
| (F5-Gen: dbSNP | Thrombophilie (F5-Gen: | Other |
| (Panel) SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SOX17, SPRY1, SRGAP1, SUFU, SYNPO, TBC1D1, TBC1D8B, TBX18, TBX6, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TTC21B, TTC8, TXNDC15, UMOD, UPK3A, VDR, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WDR73, WNK1, WNK4, WNT4, WNT5A, WT1, XPNPEP3, XPO5, ZNF423) | (Panel) SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SOX17, SPRY1, SRGAP1, SUFU, SYNPO, TBC1D1, TBC1D8B, TBX18, TBX6, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TTC21B, TTC8, TXNDC15, UMOD, UPK3A, VDR, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WDR73, WNK1, WNK4, WNT4, WNT5A, WT1, XPNPEP3, XPO5, ZNF423) | Other |
| (Therapierelevanz) (BRCA1, BRCA2 | (Therapierelevanz) (BRCA1, BRCA2 | Other |
| (Untersuchung auf | (Untersuchung auf | Other |
| (rs1800562,rs1799945) | H63D) (rs1800562, rs1799945) | Other |
| (virtuelles Panel, Illumina Exome | (virtuelles Panel, Illumina Exome | Other |
| 6, SMAD6, TLL1, ZFPM2, ZIC3, ABCC9, ADAMTS19, COL1A2, FBN2, FGFR2, FKBP14, FOXH1, HAND1, HAND2, HYAL2, IPO8, IRX4, LAMA4, LEFTY1, LEFTY2, MMP21, MYH7, MYOM2, PBX1, PLXND1, ROBO4, SMAD2, TFAP2B, ABL1, CBL, CHD7, KDM6A, KMT2D, KRAS, MAP2K1, MAP2K2, NRAS, NSD1, PTPN11, RAF1, RIT1, SHOC2, ZEB2, ARID1A, ASXL1, BCOR, BRAF, CDK13, CHD4, CREBBP, EHMT1, EP300, EVC, EVC2, HRAS, LZTR1, MRAS, NF1, PPP1CB, PRKD1, RAI1, RRAS2, SETBP1, SOS2, TRAF7, | Ziliopathie (Panel) (AHI1, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP83, CFAP298, CFAP300, CFAP410, CFAP418, CFTR, CILK1, CPLANE1, CRB2, CSPP1, DDX59, DHCR7, DLG5, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, | Other |
| ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, CSNK1A1, CUX1, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, FLT3-ITD, GATA1, GATA2, GNB1, IDH1, IDH2, IL6R, JAK2, KIT, KRAS, MPL, MYD88, NF1, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PIGA, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZEB2, ZRSR2)² | ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, CSNK1A1, CUX1, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, FLT3-ITD, GATA1, GATA2, GNB1, IDH1, IDH2, IL6R, JAK2, KIT, KRAS, MPL, MYD88, NF1, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PIGA, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZEB2, ZRSR2)² | Other |
| Autismus Tier 1 (IDS, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KATNAL2, KCNC2, KCNH1, KDM5C, KIF1A, KMT2A, KMT2B, KMT2E, KMT5B, L1CAM, LINS1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MEF2C, MEIS2, MID1, MSL3, MYT1L, NAA10, NAA15, NBEA, NDP, NEXMIF, NHS, NONO, NR2F1, NR4A2, NSD1, NSD2, OCRL, OFD1, OPHN1, PACS1, PAK3, PGAP3, PHF21A, PHF6, PHF8, PHIP, PIGL, PIGN, PLP1, POGZ, PORCN, PPM1D, PPP2R1A, PPP2R5D, PQBP1, PTEN, PUF60, QRICH1, RAD21, RAI1, RERE, RPS6KA3, SATB2, SCN2A, SET, SETBP1, SETD5, SHANK3, SIN3A, SLC16A2, SLC2A1, SMAD4, SMARCA2, SMARCA4, SMC1A, SMC3, SMS, SNAP25, SON, SOX5, STAG1, SYN1, SYNGAP1, TANC2, TAOK1, TBR1, TCF7L2, TELO2, TRAPPC9, TRIM8, TRIP12, TRRAP, TUSC3, UBE2A, UBTF, USP9X, VPS13B, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZMIZ1, ZNF292, ZNF711 ) SNV CNV) | Autismus Tier 1 (IDS, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KATNAL2, KCNC2, KCNH1, KDM5C, KIF1A, KMT2A, KMT2B, KMT2E, KMT5B, L1CAM, LINS1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MEF2C, MEIS2, MID1, MSL3, MYT1L, NAA10, NAA15, NBEA, NDP, NEXMIF, NHS, NONO, NR2F1, NR4A2, NSD1, NSD2, OCRL, OFD1, OPHN1, PACS1, PAK3, PGAP3, PHF21A, PHF6, PHF8, PHIP, PIGL, PIGN, PLP1, POGZ, PORCN, PPM1D, PPP2R1A, PPP2R5D, PQBP1, PTEN, PUF60, QRICH1, RAD21, RAI1, RERE, RPS6KA3, SATB2, SCN2A, SET, SETBP1, SETD5, SHANK3, SIN3A, SLC16A2, SLC2A1, SMAD4, SMARCA2, SMARCA4, SMC1A, SMC3, SMS, SNAP25, SON, SOX5, STAG1, SYN1, SYNGAP1, TANC2, TAOK1, TBR1, TCF7L2, TELO2, TRAPPC9, TRIM8, TRIP12, TRRAP, TUSC3, UBE2A, UBTF, USP9X, VPS13B, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZMIZ1, ZNF292, ZNF711 ) SNV CNV) | Other |
| Birt-Hogg-Dubé Syndrom (BAP1, CDC73, CDKN1B, CHEK2, COL3A1, CYLD, EPCAM, FBN1, FH, FLCN, IDH2, MAX, MEN1, MET, MLH1, MSH2, MSH6, PMS2, PRKAR1A, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL ); SNV, CNV | TL1, MT-TS2, MTPAP, MTRFR, MTTP, MVK, MYO7A, NAALADL1, NBAS, NDP, NDUFS2, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUS1, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B) | Other |
| CAV1, CAV3, CETP, CIDEC, CPT2, CYP27A1, DHCR24, DHCR7, FBN1, GCKR, GK, GPD1, GPIHBP1, KCNJ6, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPIN1, LPL, MTTP, NPC1, NPC1L1, NPC2, PCSK9, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, PYGM, RYR1 (nur Exons | CAV1, CAV3, CETP, CIDEC, CPT2, CYP27A1, DHCR24, DHCR7, FBN1, GCKR, GK, GPD1, GPIHBP1, KCNJ6, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPIN1, LPL, MTTP, NPC1, NPC1L1, NPC2, PCSK9, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, PYGM, RYR1 (nur Exons | Other |
| CBS, FLCN, FOXE3, HCN4, MAT2A, MFAP5, SKI); SNV, CNV | CBS, FLCN, FOXE3, HCN4, MAT2A, MFAP5, SKI); SNV, CNV | Other |
| CYP2C19*17) | CYP2C19*17) | Other |
| CYP2C9*3 (rs1057910)) | CYP2C9*3 (rs1057910)) | Other |
| DIN EN 513 (2019-03) | und 2, GNAS, HRAS, IKZF1, JAK3, KDM6A, KIT, KMT2A, KRAS, LUC7L2, MAP2K1, MYC, MYD88, NF1, NOTCH1, NMP1, NRAS, PDGFRA, PHF6, PPM1D, PTEN, PTPN11, RAD21, RBBP6, RUNX1, SETBP1, SF3B1, SH2B3, SLC29A1, SMC1A, SMC3, SRSF2, STAG2, STAT3, TET2, TP53, U2AF1, U2FA2, WT1, XPO1) | Other |
| Epilepsie Tier 2 (AARS1, ABCA2, ADAM22, ADAR, ADAT3, ADGRG1, ADPRS, ADSL, AIMP1, ALDH5A1, ALG1, ALG11, ALG14, ALG3, ALG6, ALG9, ALKBH8, AMPD2, AP1G1, APC2, ARFGEF2, ARG1, ASAH1, ASNS, ATP6V0A2, BCKDHA, BCKDHB, BCS1L, BLOC1S1, BLTP1, BRAT1, BTD, C12orf57, CACNA2D1, CACNA2D2, CARS2, CC2D2A, CCDC88A, CHKA, CLN3, CLN5, CLN6, CLN8, CNTN2, COG6, COG7, COLGALT1, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPLX1, CPSF3, CRPPA, CTSD, CTSF, CYP27A1, DBT, DDC, DEGS1, DHCR24, DHCR7, DHPS, DHX30, DIAPH1, DMXL2, DNAJC6, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPYD, DTYMK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, ETHE1, EXOC7, EXOSC3, FARS2, FASTKD2, FBXL4, FCSK, FDFT1, FKRP, FKTN, FOXRED1, FUCA1, FUT8, GAD1, GALC, GALNT2, GAMT, GCSH, GFM1, GLB1, GLDC, GLUL, GLYCTK, GM2A, GNB5, GSS, GTPBP2, | Epilepsie Tier 2 (AARS1, ABCA2, ADAM22, ADAR, ADAT3, ADGRG1, ADPRS, ADSL, AIMP1, ALDH5A1, ALG1, ALG11, ALG14, ALG3, ALG6, ALG9, ALKBH8, AMPD2, AP1G1, APC2, ARFGEF2, ARG1, ASAH1, ASNS, ATP6V0A2, BCKDHA, BCKDHB, BCS1L, BLOC1S1, BLTP1, BRAT1, BTD, C12orf57, CACNA2D1, CACNA2D2, CARS2, CC2D2A, CCDC88A, CHKA, CLN3, CLN5, CLN6, CLN8, CNTN2, COG6, COG7, COLGALT1, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPLX1, CPSF3, CRPPA, CTSD, CTSF, CYP27A1, DBT, DDC, DEGS1, DHCR24, DHCR7, DHPS, DHX30, DIAPH1, DMXL2, DNAJC6, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPYD, DTYMK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, ETHE1, EXOC7, EXOSC3, FARS2, FASTKD2, FBXL4, FCSK, FDFT1, FKRP, FKTN, FOXRED1, FUCA1, FUT8, GAD1, GALC, GALNT2, GAMT, GCSH, GFM1, GLB1, GLDC, GLUL, GLYCTK, GM2A, GNB5, GSS, GTPBP2, | Other |
| Epilepsie Tier 2 (PEX5, PEX7, PGM2L1, PHGDH, PIDD1, PIGC, PIGG, PIGK, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGU, PIGW, PLA2G6, PLAA, PLCB1, PMM2, PMPCB, PNKP, POLG, POMGNT1, POMT1, POMT2, PPIL1, PPT1, PRICKLE1, PRMT7, PSAT1, PSPH, PTF1A, PTPN23, PTS, QARS1, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RALGAPA1, RARS1, RARS2, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, RTN4IP1, RTTN, RUSC2, SARS1, SEPSECS, SLC1A4, SLC25A1, SLC31A1, SLC35A1, SLC35A3, SLC39A8, SLC45A1, SLC5A6, SNIP1, SNORD118, SPATA5, SPATA5L1, SPTBN4, ST3GAL3, ST3GAL5, STAMBP, STRADA, SUCLA2, SUCLG1, SUOX, SURF1, TAF8, TANGO2, TBC1D20, TBCD, TDP2, TELO2, TIMM50, TMEM222, TMEM70, TMX2, TPP1, TRAPPC12, TRAPPC6B, TRIP13, TRPM6, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBGCP2, UBR7, UFC1, UFM1, UNC80, USP18, VARS1, VLDLR, VPS11, VPS50, WARS2, WDR45B, WDR62, WDR73, YIF1B, YIPF5, ZNF335); SNV, CNV) | Epilepsie Tier 2 (PEX5, PEX7, PGM2L1, PHGDH, PIDD1, PIGC, PIGG, PIGK, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGU, PIGW, PLA2G6, PLAA, PLCB1, PMM2, PMPCB, PNKP, POLG, POMGNT1, POMT1, POMT2, PPIL1, PPT1, PRICKLE1, PRMT7, PSAT1, PSPH, PTF1A, PTPN23, PTS, QARS1, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RALGAPA1, RARS1, RARS2, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, RTN4IP1, RTTN, RUSC2, SARS1, SEPSECS, SLC1A4, SLC25A1, SLC31A1, SLC35A1, SLC35A3, SLC39A8, SLC45A1, SLC5A6, SNIP1, SNORD118, SPATA5, SPATA5L1, SPTBN4, ST3GAL3, ST3GAL5, STAMBP, STRADA, SUCLA2, SUCLG1, SUOX, SURF1, TAF8, TANGO2, TBC1D20, TBCD, TDP2, TELO2, TIMM50, TMEM222, TMEM70, TMX2, TPP1, TRAPPC12, TRAPPC6B, TRIP13, TRPM6, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBGCP2, UBR7, UFC1, UFM1, UNC80, USP18, VARS1, VLDLR, VPS11, VPS50, WARS2, WDR45B, WDR62, WDR73, YIF1B, YIPF5, ZNF335); SNV, CNV) | Other |
| Fluoropyrimidin Toxizität (DPD-Gen: | Fluoropyrimidin Toxizität (DPD-Gen: | Other |
| Hämochromatose (HFE-Gen: | Hämochromatose (HFE-Gen:db | Other |
| Leukodystrophie (AARS1, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CTSA, CYP27A1, DARS1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, GALC, GBE1, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HMGCL, HTRA1, ITM2B, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MARS1, MCOLN1, MTHFR, NOTCH3, OCRL, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPS6KA3, SAMHD1, SNORD118, SPG11, SPG21, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26, MLC1, CST3, CTC1, EARS2, GCDH, KIF5A, MAL, NPC1, PSEN2, TPP2); SNV, CNV | TENT5C, TERC, TERF2IP, TERT, TET2, TFE3, TGFB1, TGFBR2, TLR4, TLX1, TMEM127, TNF, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF14, TNFRSF1A, TNFRSF1B, TNFRSF25, TNFRSF8, TNFSF11, TNK2, TOP1, TOP2A, TP53, TP53BP1, TP63, TPX2, TRAF2, TRAF3, TRAF5, TRAF6, TRAF7, TRRAP, TSC1, TSC2, TSHR, TTK, TUBA4A, TUBB, TYMS, U2AF1, UBE2T, UBR5, UGT2B15, UGT2B7, UIMC1, UNG, USP34, USP9X, VEGFA, VEGFB, VHL, VKORC1, WAS, WASF3, WI5P3, WRN, WT1, XIAP, XPA, XPC, XP01, XRCC1, XRCC2, XRCC3, XRCC5, XRCC6, YAP1, YES1, ZFHX3, ZHX3, ZNF217, ZNRF3, ZRSR2, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4) | Other |
| Mavacamten Toxizität (CYP2C19- | Mavacamten Toxizität (CYP2C19- | Other |
| Morbus Bechterew (HLA-B27 | Morbus Bechterew (HLA-B27 | Other |
| RPS6KB1, TULP3, PDLIM3, TTN, NEXN, RBM20, RYR2, VCL, CALR3, KLF10, KLHL24, MYOM1, MYOZ2, ABCC9, BAG3, COX15, CRYAB, DES, GAA, LDB3, SLC25A4); SNV, CNV | RPS6KB1, TULP3, PDLIM3, TTN, NEXN, RBM20, RYR2, VCL, CALR3, KLF10, KLHL24, MYOM1, MYOZ2, ABCC9, BAG3, COX15, CRYAB, DES, GAA, LDB3, SLC25A4); SNV, CNV | Other |
| Siponimod Toxizität (CYP2C9-Gen: | Siponimod Toxizität (CYP2C9-Gen: | Other |
| Subtypen B*2702 und B*2705) | Subtypen B*2702 und B*2705) | Other |
| Tumordisposition breit (NAF1, NF2, NHP2, NOP10, NRAS, NSD1, PARN, POT1, PRKAR1A, RAF1, RB1, RECQL4, REST, RET, RIT1, RMRP, RNF43, RPA1, RPL11, RPL15, RPL23, RPL26, RPL31, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SHOC2, SMAD4, SOS1, STN1, TERC, TERT, TINF2, TMEM127, TRIP13, TSC1, TSC2, VHL, WRAP53, AXIN2, GREM1, MSH3, BRAF, HOXB13, LZTR1, PDGFRB, SPRED1, MET, PDGFRA, EZH2, COL3A1, CYLD, FBN1, IDH2, DLST, MDH2, SLC25A11, GPR101, IDH1, AIP, CASR, DNMT3A, EGLN1, EPAS1, H3-3B, KIF1B, MERTK, SUCLG2, ANKRD26, CBL, CEBPA, CTR9, DDX41, DIS3L2, DNAJC21, ETV6, FAS, GATA2, HAX1, IKZF1, ITK, KIT, MAP2K2, NYNRIN, PAX5, PHOX2B, PPP1CB, PRF1, RAD51, RUNX1, SBDS, SERPINA1, SH2D1A, | Tumordisposition breit (NAF1, NF2, NHP2, NOP10, NRAS, NSD1, PARN, POT1, PRKAR1A, RAF1, RB1, RECQL4, REST, RET, RIT1, RMRP, RNF43, RPA1, RPL11, RPL15, RPL23, RPL26, RPL31, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SHOC2, SMAD4, SOS1, STN1, TERC, TERT, TINF2, TMEM127, TRIP13, TSC1, TSC2, VHL, WRAP53, AXIN2, GREM1, MSH3, BRAF, HOXB13, LZTR1, PDGFRB, SPRED1, MET, PDGFRA, EZH2, COL3A1, CYLD, FBN1, IDH2, DLST, MDH2, SLC25A11, GPR101, IDH1, AIP, CASR, DNMT3A, EGLN1, EPAS1, H3-3B, KIF1B, MERTK, SUCLG2, ANKRD26, CBL, CEBPA, CTR9, DDX41, DIS3L2, DNAJC21, ETV6, FAS, GATA2, HAX1, IKZF1, ITK, KIT, MAP2K2, NYNRIN, PAX5, PHOX2B, PPP1CB, PRF1, RAD51, RUNX1, SBDS, SERPINA1, SH2D1A, | Other |
| XPA, XPC, TP53, AIP, DNMT3A, MET) SNV CNV | XPA, XPC, TP53, AIP, DNMT3A, MET) SNV CNV | Other |
| and Mitochondrial Panel) (BRCA1, BRCA2 ); SNV | and Mitochondrial Panel) (BRCA1, BRCA2 ); SNV | Other |
| dbSNP rs3918290, rs55886062, rs67376798, rs56038477) | dbSNP rs3918290, rs55886062, rs67376798, rs56038477) | Other |
| dbSNP rs6025, F2-Gen: rs1799963) | dbSNP rs6025, F2-Gen: rs1799963) | Other |