ScopeMedizinisches Versorgungszentrum am Klinikum Oldenburg GmbH Universitätsinstitut für Medizinische Genetik
81 capabilities
Accredited since June 2025
Verified Oct 2026
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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 (81)
| Standard Reference | Description | Category |
|---|---|---|
| (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 |
| (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 |
| (F5-Gen: dbSNP rs6025) | Thrombophilie (F5-Gen: HR2 (dbSNP rs1800595)) | 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 |
| (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 |
| 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 |
| ARVC (FLNC, DES, DSC2, DSP, JUP, LMNA, TMEM43, PKP2, ANK2, CDH2, MYH7, PLN, SCN5A, TTN, TGFB3, MYL3, CAV3, CTNNA3, TJP1); SNV, CNV | ARVC (FLNC, DES, DSC2, DSP, JUP, LMNA, TMEM43, PKP2, ANK2, CDH2, MYH7, PLN, SCN5A, TTN, TGFB3, MYL3, CAV3, CTNNA3, TJP1); SNV, CNV | 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 |
| Albinismus (GPR143, HPS1, HPS3, HPS4, HPS5, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1 ); SNV, CNV | Albinismus (GPR143, HPS1, HPS3, HPS4, HPS5, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1 ); 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 (EPCAM, MLH1, MSH2, MSH6, PMS2, BAP1, MUTYH, NTHL1, NF1, SMARCA4, SMARCB1, STK11, TP53, FH); SNV CNV | Blasen- und Harnleiterkrebs (EPCAM, MLH1, MSH2, MSH6, PMS2, BAP1, MUTYH, NTHL1, NF1, SMARCA4, SMARCB1, STK11, TP53, FH); SNV CNV | 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 |
| 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 (HDAC8, NIPBL, RAD21, SMC3 ); SNV, CNV | Cornelia-de-Lange-Syndrom (HDAC8, NIPBL, RAD21, SMC3 ); SNV, CNV | 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 |
| Familiärer Brust- und Eierstockkrebs (Therapierelevanz) (BRCA1, BRCA2 ); SNV, CNV | Familiärer Brust- und Eierstockkrebs (Therapierelevanz) (BRCA1, BRCA2 ); SNV, CNV | 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 |
| Fluoropyrimidin Toxizität (DPD-Gen: dbSNP rs3918290, rs55886062, rs67376798, rs56038477) | Fluoropyrimidin Toxizität (DPD-Gen: dbSNP rs3918290, rs55886062, rs67376798, rs56038477) | Molecular Diagnostics / PCR |
| GIST (KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD ); SNV, CNV | GIST (KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD ); SNV, CNV | Molecular Diagnostics / PCR |
| Hämochromatose (HFE-Gen: (dbSNP rs1799945), C282Y (rs1800562)) | Hämochromatose (HFE-Gen: rs1799945; rs1800562; rs1800730) | 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 |
| Marfan-Syndrom (FBN1, TGFBR1, TGFBR2, IPO8, COL1A2, FKBP14 ); SNV, CNV | Marfan-Syndrom (FBN1, TGFBR1, TGFBR2, IPO8, COL1A2, FKBP14 ); SNV, CNV | Molecular Diagnostics / PCR |
| Mavacamten Toxizität (CYP2C19- Gen: CYP2C19*2, CYP2C19*3 und CYP2C19*17) | Mavacamten Toxizität (CYP2C19- Gen: CYP2C19*2, CYP2C19*3 und CYP2C19*17) | 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 |
| Morbus Bechterew (HLA-B27 Subtypen B*2702 und B*2705) | Morbus Bechterew (HLA-B27 Subtypen B*2702 und B*2705) | Molecular Diagnostics / PCR |
| Morbus Bechterew (HLA-B27 Subtypen B*2702, B*2703, B*2704 und B*2705) | Morbus Bechterew (HLA-B27 Subtypen B*2702, B*2703, B*2704 und B*2705) | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie | Multiple Endokrine Neoplasie | Molecular Diagnostics / PCR |
| Nierenerkrankung | Polyzystische Nierenerkrankung | 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 (COPB2, MBTPS2, NUDT6, SGMS2, SUCO ); SNV, CNV | Osteogenesis imperfecta Tier 2 (COPB2, MBTPS2, NUDT6, SGMS2, SUCO ); SNV, CNV | 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 |
| 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 (CREBBP, EP300, FGFR1, FGFR2, GLI3, HOXD13, SRCAP, TWIST1 ); SNV, CNV | Rubenstein-Taybi-Syndrom (CREBBP, EP300, FGFR1, FGFR2, GLI3, HOXD13, SRCAP, TWIST1 ); SNV, CNV | 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 |
| Schwerhörigkeit | Sensorineurale Schwerhörigkeit | Molecular Diagnostics / PCR |
| Segregationsanalysen oder Untersuchung auf | Segregationsanalysen oder Untersuchung auf | 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 (GJB2 ) | Sensorineurale Schwerhörigkeit (GJB2 ) | Molecular Diagnostics / PCR |
| Sensorineurale Schwerhörigkeit (GJB2, GJB6 ); SNV, CNV | Sensorineurale Schwerhörigkeit (GJB2, GJB6 ); SNV, CNV | Molecular Diagnostics / PCR |
| Siponimod Toxizität (CYP2C9-Gen: CYP2C9*2 (rs1799853) und CYP2C9*3 (rs1057910)) | Siponimod Toxizität (CYP2C9-Gen: CYP2C9*2 (rs1799853) und CYP2C9*3 (rs1057910)) | Molecular Diagnostics / PCR |
| Stäbchen-Zapfen Dystrophie | Stäbchen-Zapfen Dystrophie | Molecular Diagnostics / PCR |
| TMEM231, TMEM67, TXNDC15 | TMEM231, TMEM67, TXNDC15 | Molecular Diagnostics / PCR |
| Therapieindikation Olaparib (virtuelles Panel, Illumina Exome 2.5 and Mitochondrial Panel) (BRCA1, BRCA2 ); SNV | Therapieindikation Olaparib (virtuelles Panel, Illumina Exome 2.5 and Mitochondrial Panel) (BRCA1, BRCA2 ); SNV | Molecular Diagnostics / PCR |
| Unklare Erkrankungen mit wahrscheinlich erblicher Ursache und Auswertung von Varianten mit HPO Terms; SNV, CNV | Unklare Erkrankungen mit wahrscheinlich erblicher Ursache und Auswertung von Varianten mit HPO Terms; SNV, CNV | Molecular Diagnostics / PCR |
| CBS, FLCN, FOXE3, HCN4, MAT2A, MFAP5, SKI); SNV, CNV | CBS, FLCN, FOXE3, HCN4, MAT2A, MFAP5, SKI); SNV, CNV | 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 |
| Neurofibromatose / | Neurofibromatose / | Other |
| S C | S C | Other |
| SNV, CNV | SNV, CNV | Other |
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