ScopeUniversitätsmedizin Göttingen MVZ der UMG, Bereich Humangenetik
344 capabilities
Accredited since May 2025
Verified Sep 2026
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Heinrich-Düker-Weg 12
Göttingen 37073 , Germany
Göttingen 37073 , Germany
Accreditation
Active
DAkkS
D-ML-13161-06-00
Specialises in molecular and cytogenetic human genetics testing, including chromosome analysis and molecular diagnostics using sequencing and MLPA, with flexibility to develop and modify procedures for hereditary disease assessment.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13161-06-00
Status
ActiveSince
14 May 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 (344)
| Standard Reference | Description | Category |
|---|---|---|
| angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| CDH1; erbl. Magenkarzinom | CDH1; erbl. Magenkarzinom | Elemental Analysis |
| Catecholaminerge polymorphe | Catecholaminerge polymorphe | Elemental Analysis |
| Familiäre Hypercholesterinämie | Familiäre Hypercholesterinämie | Elemental Analysis |
| GLA; Morbus Fabry | GLA; Morbus Fabry | Elemental Analysis |
| Hereditäre motorisch-sensible | Hereditäre motorisch-sensible | Elemental Analysis |
| (ARVC/D): DSC2, DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, CASQ2, RYR2 | (ARVC/D): DSC2, DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, CASQ2, RYR2 | Molecular Diagnostics / PCR |
| (CLS) | (CLS) | Molecular Diagnostics / PCR |
| (CMD): ANKH, GJA1 | (CMD): ANKH, GJA1 | Molecular Diagnostics / PCR |
| (Cabezas; MRX93; MRX72; Turner type): CUL4B, BRWD3, RAB39B, HUWE1 | (Cabezas; MRX93; MRX72; Turner type): CUL4B, BRWD3, RAB39B, HUWE1 | 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 |
| (Dyskinesie): ADCY5, KCNA1, KCNMA1, NKX2-1, PDE10A, PDE8B, PNKD, PRNP, PRRT2, RNF216, SLC2A1 | (Dyskinesie): ADCY5, KCNA1, KCNMA1, NKX2-1, PDE10A, PDE8B, PNKD, PRNP, PRRT2, RNF216, SLC2A1 | Molecular Diagnostics / PCR |
| (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBLN5, HELLS, KCNJ6, LIPE, LMNB1, LTPB4, MRE11A, NAA10, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRAP53, WRN, XPA, XPC | (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBLN5, HELLS, KCNJ6, LIPE, LMNB1, LTPB4, MRE11A, NAA10, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, 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 |
| (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNA, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, PALB2, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, SLX4, SMC2, SMC4, SPRTN, TINF2, TFAP2A, UBE2T, WFS1, WRN, XPA, XPC, ZMPSTE24 | (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNA, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, PALB2, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, SLX4, SMC2, SMC4, SPRTN, TINF2, TFAP2A, UBE2T, WFS1, WRN, XPA, XPC, ZMPSTE24 | Molecular Diagnostics / PCR |
| (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | Molecular Diagnostics / PCR |
| (HHT): ACVRL1, ENG, SMAD4, GDF2, RASA1 | (HHT): ACVRL1, ENG, SMAD4, GDF2, RASA1 | Molecular Diagnostics / PCR |
| (HSP), unbestimmt: ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST | (HSP), unbestimmt: ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST | Molecular Diagnostics / PCR |
| (LDLR_Defizienz): LDLR | (LDLR_Defizienz): LDLR | Molecular Diagnostics / PCR |
| (MLS): FBN1, AGPAT2, B3GALT6, B4GALT7, BSCL2, CAV1, LIPE, LMNA, PLIN1, PIK3R1, PPARG, PTRF, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, BLM, BRCA2, BRIP1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | (MLS): FBN1, AGPAT2, B3GALT6, B4GALT7, BSCL2, CAV1, LIPE, LMNA, PLIN1, PIK3R1, PPARG, PTRF, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, BLM, BRCA2, BRIP1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| (MOCS1, MOCS2) | (MOCS1, MOCS2) | Molecular Diagnostics / PCR |
| (MRT41): KPTN | (MRT41): KPTN | Molecular Diagnostics / PCR |
| (NCBRS): SMARCA2 | (NCBRS): SMARCA2 | Molecular Diagnostics / PCR |
| (NCCM): ACTC1, HCN4, MIB1, MYBPC3, MYH7, NEXN, PRDM16, TAZ, TPM1 | (NCCM): ACTC1, HCN4, MIB1, MYBPC3, MYH7, NEXN, PRDM16, TAZ, TPM1 | Molecular Diagnostics / PCR |
| (NGPS): BANF1, LMNA, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, 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), FBLN5, HELLS, KCNJ6, LIPE, LMNB1,LTPB4, MRE11A, NAA10, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC | (NGPS): BANF1, LMNA, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, 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), FBLN5, HELLS, KCNJ6, LIPE, LMNB1,LTPB4, MRE11A, NAA10, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC | Molecular Diagnostics / PCR |
| (ODDD): GJA1 | (ODDD): GJA1 | Molecular Diagnostics / PCR |
| (RTS): RECQL4, 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 | (RTS): RECQL4, 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 | Molecular Diagnostics / PCR |
| (RTSC): WASHC5/KIAA0196, CCDC22 | (RTSC): WASHC5/KIAA0196, CCDC22 | Molecular Diagnostics / PCR |
| (SGBS): GPC3, OFD1 | (SGBS): GPC3, OFD1 | Molecular Diagnostics / PCR |
| (SHMS): PACS1 | (SHMS): PACS1 | Molecular Diagnostics / PCR |
| (SPG4), SPG7 | (SPG4), SPG7 | 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 |
| (TBRS): DNMT3A | (TBRS): DNMT3A | Molecular Diagnostics / PCR |
| (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, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | (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, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | Molecular Diagnostics / PCR |
| 3M-Syndrom | 3M-Syndrom | Molecular Diagnostics / PCR |
| AARS, AIFM1, ARHGEF10, ATL1, ATL3, ATP7A, BSCL2, CCT5, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IGHMBP2, IKBKAP, INF2, JPH1, KARS, KIF1A, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7 | AARS, AIFM1, ARHGEF10, ATL1, ATL3, ATP7A, BSCL2, CCT5, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IGHMBP2, IKBKAP, INF2, JPH1, KARS, KIF1A, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7 | Molecular Diagnostics / PCR |
| ABCD1, AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, DARS2, GALC, GFAP, GJC2, HEPACAM, MLC1, PLP1, PSAP, RNASET2, TMEM63A, TUBB4A | ABCD1, AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, DARS2, GALC, GFAP, GJC2, HEPACAM, MLC1, PLP1, PSAP, RNASET2, TMEM63A, TUBB4A | Molecular Diagnostics / PCR |
| ACAN, CANT1, CCN6 (WISP3), COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, SLCO2A1 | ACAN, CANT1, CCN6 (WISP3), COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, SLCO2A1 | Molecular Diagnostics / PCR |
| ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| ACTB, ACTG1 | ACTB, ACTG1 | Molecular Diagnostics / PCR |
| ACTC1, DES, MYH7, MYL2, MYPN, TNNI3, TNNT2, TPM1 | ACTC1, DES, MYH7, MYL2, MYPN, TNNI3, TNNT2, TPM1 | Molecular Diagnostics / PCR |
| ACTG1, ADCY1, ADGRV1, AIFM1, ATP2B2, ATP6B1 (ATP6V1B1), CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, CLRN1-AS1, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM65B, FGF3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GRHL2, GRXCR1, GRXCR2, GSDME | ACTG1, ADCY1, ADGRV1, AIFM1, ATP2B2, ATP6B1 (ATP6V1B1), CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, CLRN1-AS1, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM65B, FGF3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GRHL2, GRXCR1, GRXCR2, GSDME | 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 |
| ALS-ähnliche Hereditäre Spastische | ALS-ähnliche Hereditäre Spastische | Molecular Diagnostics / PCR |
| ALS2, ANG, CHCHD10, CHMP2B, FIG4, FUS, MATR3, OPTN, PFN1, SOD1, TARDBP, TUBA4A, UBQLN2, VAPB, VCP | ALS2, ANG, CHCHD10, CHMP2B, FIG4, FUS, MATR3, OPTN, PFN1, SOD1, TARDBP, TUBA4A, UBQLN2, VAPB, VCP | Molecular Diagnostics / PCR |
| ALX1, ALX3, ALX4, BMP4, DHOD, EFNB1, EFTUD2, GLI3, MN1, MSX2, POLR1C, POLR1D, SF3B4, TCOF, ZSWIM6 | ALX1, ALX3, ALX4, BMP4, DHOD, EFNB1, EFTUD2, GLI3, MN1, MSX2, POLR1C, POLR1D, SF3B4, TCOF, ZSWIM6 | Molecular Diagnostics / PCR |
| APOB, PCSK9, LDLRAP1 | APOB, PCSK9, LDLRAP1 | Molecular Diagnostics / PCR |
| ASPM, CDK5RAP2, CEP152, MCPH1, ANKLE2, ARX, BRAT1, CASC5, CASK, CDC6, CDK5, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP63, CKAP2L, DCX, DDX11, DHCR7, DNA2, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MFSD2A, NBN, NHEJ1, NIN, ORC1, ORC4, ORC6, PAFAH1B1 (LIS1), PCNA, PCNT, PHC1, PPM1D/WIP1, RAD50, RBBP8, RELN, RMI1, RNU4atac, RTTN, SASS6, STIL, TRAIP, TUBA1A, WDR62, XRCC4, XRCC9, ZNF335, EFTUD2, OSGEP, TP53RK, TPRKB, LAGE3, PNKP, WDR73, NCAPH2, CIT, NSMCE2, NEK3, CEP350, FANCM, CSNK2B, PYCR2, WRN, NUP133, NUP107, WDR4, ZEB2, TRMT1, TRAPPC9, NMT3A, DYNC1I2, VPS51, NDE1, BUB1B, KIF5C, KIF2A, TUBG1, TUBB2B, TBCD, POC1A , CHAMP1, MRE11A, STAMBP, COPB2 | ASPM, CDK5RAP2, CEP152, MCPH1, ANKLE2, ARX, BRAT1, CASC5, CASK, CDC6, CDK5, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP63, CKAP2L, DCX, DDX11, DHCR7, DNA2, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MFSD2A, NBN, NHEJ1, NIN, ORC1, ORC4, ORC6, PAFAH1B1 (LIS1), PCNA, PCNT, PHC1, PPM1D/WIP1, RAD50, RBBP8, RELN, RMI1, RNU4atac, RTTN, SASS6, STIL, TRAIP, TUBA1A, WDR62, XRCC4, XRCC9, ZNF335, EFTUD2, OSGEP, TP53RK, TPRKB, LAGE3, PNKP, WDR73, NCAPH2, CIT, NSMCE2, NEK3, CEP350, FANCM, CSNK2B, PYCR2, WRN, NUP133, NUP107, WDR4, ZEB2, TRMT1, TRAPPC9, NMT3A, DYNC1I2, VPS51, NDE1, BUB1B, KIF5C, KIF2A, TUBG1, TUBB2B, TBCD, POC1A , CHAMP1, MRE11A, STAMBP, COPB2 | Molecular Diagnostics / PCR |
| ATP13A2, ATP1A3, DCTN1, DNAJC6, FBXO7, GCH1, LRP10, MAPT, PLA2G6, SLC30A10, SYNJ1, TH, VPS13C | ATP13A2, ATP1A3, DCTN1, DNAJC6, FBXO7, GCH1, LRP10, MAPT, PLA2G6, SLC30A10, SYNJ1, TH, VPS13C | Molecular Diagnostics / PCR |
| ATP13A2, CHCHD2, FBXO7, GCH1, LRRK2, PRKN, PARK7, PINK1, PLA2G6, SNCA, UCHL1, TH | ATP13A2, CHCHD2, FBXO7, GCH1, LRRK2, PRKN, PARK7, PINK1, PLA2G6, SNCA, UCHL1, TH | Molecular Diagnostics / PCR |
| ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 | ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 | Molecular Diagnostics / PCR |
| ATP7B; Morbus Wilson | ATP7B; Morbus Wilson | Molecular Diagnostics / PCR |
| Aarskog-Syndrom: FGD1 | Aarskog-Syndrom: FGD1 | Molecular Diagnostics / PCR |
| Achromatopsie: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H | Achromatopsie: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H | Molecular Diagnostics / PCR |
| Adulte Leukodystrophien: ABCD1, ARSA, CSF1R, CYP27A1, DARS2, EIF2B5, GALC, GFAP, HTRA1, LMNB1, MLC1, NOTCH3 | Adulte Leukodystrophien: ABCD1, ARSA, CSF1R, CYP27A1, DARS2, EIF2B5, GALC, GFAP, HTRA1, LMNB1, MLC1, NOTCH3 | Molecular Diagnostics / PCR |
| Alagille-Syndrom: JAG1, NOTCH2, BMP2 | Alagille-Syndrom: JAG1, NOTCH2, BMP2 | Molecular Diagnostics / PCR |
| Albinismus (syndromal): AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, EPG5, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, SOX10, TYR, TYRP1 | Albinismus (syndromal): AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, EPG5, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, SOX10, TYR, TYRP1 | Molecular Diagnostics / PCR |
| Alexander-Krankheit: GFAP | Alexander-Krankheit: GFAP | Molecular Diagnostics / PCR |
| Alzheimer-Erkrankung: APOE, APP, PSEN1, PSEN2 | Alzheimer-Erkrankung: APOE, APP, PSEN1, PSEN2 | Molecular Diagnostics / PCR |
| Arrhythmien (Panel) (ACTC1, ACTN2, BAG3, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CSRP3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GLA, HCN4, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH7, MYL2, MYL3, NEXN, PKP2, PLN, PRDM16, PRKAG2, RBM20, RYR2, SCN5A, SLC4A3, TAFAZZIN, TECRL, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL) | Arrhythmien (Panel) (ACTC1, ACTN2, BAG3, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CSRP3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GLA, HCN4, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH7, MYL2, MYL3, NEXN, PKP2, PLN, PRDM16, PRKAG2, RBM20, RYR2, SCN5A, SLC4A3, TAFAZZIN, TECRL, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL) | Molecular Diagnostics / PCR |
| Arrythmogene rechtsventrikuläre | Arrythmogene rechtsventrikuläre | Molecular Diagnostics / PCR |
| Ataxie, autosomal-dominant: AFG3L2, EEF2, FGF14, KCNC3, KCND3, PDYN, PUM1, PRKCG, SPTBN2, TGM6, TMEM240, TTBK2, VAMP1 | Ataxie, autosomal-dominant: AFG3L2, EEF2, FGF14, KCNC3, KCND3, PDYN, PUM1, PRKCG, SPTBN2, TGM6, TMEM240, TTBK2, VAMP1 | Molecular Diagnostics / PCR |
| Ataxie, autosomal-rezessiv: ANO10, APTX, PHYH, PITRM1, PNPLA6, POLG, SETX, SPG7, STUB1, TTPA | Ataxie, autosomal-rezessiv: ANO10, APTX, PHYH, PITRM1, PNPLA6, POLG, SETX, SPG7, STUB1, TTPA | Molecular Diagnostics / PCR |
| Ataxie, unbestimmt: ANO10, APTX, CYP27A1, FGF14, PHYH, PRKCG, SETX, SPG7, TTBK2, TTPA | Ataxie, unbestimmt: ANO10, APTX, CYP27A1, FGF14, PHYH, PRKCG, SETX, SPG7, TTBK2, TTPA | Molecular Diagnostics / PCR |
| Atrophy, Telecanthus: ADAMTS18 | Atrophy, Telecanthus: ADAMTS18 | Molecular Diagnostics / PCR |
| Autismus (AUTS18): CHD8 | Autismus (AUTS18): CHD8 | Molecular Diagnostics / PCR |
| BRAF, MAP2K1, MAP2K2, KRAS | BRAF, MAP2K1, MAP2K2, KRAS | Molecular Diagnostics / PCR |
| BRCA1, BRCA2, CDKN2A, CHEK2, CFTR, PALB2, STK11, APC, ATM, CFTR, MLH1, MSH2, MSH6, PALLD, PMS1, PMS2, PRSS1, PTEN, RABL3, SPINK1, VHL, TP53 | BRCA1, BRCA2, CDKN2A, CHEK2, CFTR, PALB2, STK11, APC, ATM, CFTR, MLH1, MSH2, MSH6, PALLD, PMS1, PMS2, PRSS1, PTEN, RABL3, SPINK1, VHL, TP53 | Molecular Diagnostics / PCR |
| Bardet-Biedl-Syndrom: ARL6, BBIP, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP290, IFT27, IFT74, IFT172, INPP5E, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRIM32, TTC8, TTC21B, WDPCP | Bardet-Biedl-Syndrom: ARL6, BBIP, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP290, IFT27, IFT74, IFT172, INPP5E, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRIM32, TTC8, TTC21B, WDPCP | Molecular Diagnostics / PCR |
| Basalganglien-Kalzifizierungen: ADAR, CA2, COL4A1, CTC1, ERCC6, ERCC8, GALC, IFIH1, OCLN, PDGFRB, PDGFB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREM2, TREX1, TYROBP, XPR1 | Basalganglien-Kalzifizierungen: ADAR, CA2, COL4A1, CTC1, ERCC6, ERCC8, GALC, IFIH1, OCLN, PDGFRB, PDGFB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREM2, TREX1, TYROBP, XPR1 | Molecular Diagnostics / PCR |
| Beuren-Syndrom (WBS): ELN | Beuren-Syndrom (WBS): ELN | Molecular Diagnostics / PCR |
| Bloom-Syndrom (BS): BLM, DDX11, FANCA, FANCC, NBN, RAD50, RMI1, XRCC9 (FANCG), ANKLE2, ARX, ASPM, ATR, ATRIP, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD51C, RBBP8, RELN, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, ZNF335 | Bloom-Syndrom (BS): BLM, DDX11, FANCA, FANCC, NBN, RAD50, RMI1, XRCC9 (FANCG), ANKLE2, ARX, ASPM, ATR, ATRIP, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD51C, RBBP8, RELN, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, ZNF335 | Molecular Diagnostics / PCR |
| Bloom-Syndrom mit progeroiden | Bloom-Syndrom mit progeroiden | Molecular Diagnostics / PCR |
| Branchiooto(renales) Syndrom | Branchiooto(renales) Syndrom | Molecular Diagnostics / PCR |
| Brittle Cornea-Syndrom: ZNF469 | Brittle Cornea-Syndrom: ZNF469 | Molecular Diagnostics / PCR |
| Brugada-Syndrom: CACNA1C, CACNA2D1, CACNB2, PKP2, SCN1B, SCN5A, TRPM4, AKAP9, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Brugada-Syndrom: CACNA1C, CACNA2D1, CACNB2, PKP2, SCN1B, SCN5A, TRPM4, AKAP9, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Molecular Diagnostics / PCR |
| CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1 | CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1 | Molecular Diagnostics / PCR |
| CASQ2, CALM1, KCNE1, KCNJ2, RYR2, TRDN | CASQ2, CALM1, KCNE1, KCNJ2, RYR2, TRDN | Molecular Diagnostics / PCR |
| CBL, COX15 CRYAB, DES, FHL2, GLA, GAA, JPH2, KLF10, LDB3, MAP2K1, MAP2K2, MYH6, MYLK2, MYO6, MYOZ2, NEXN, PDLIM3, RAF1, RYR2, SLC25A4, TCAP, TTR, VCL | CBL, COX15 CRYAB, DES, FHL2, GLA, GAA, JPH2, KLF10, LDB3, MAP2K1, MAP2K2, MYH6, MYLK2, MYO6, MYOZ2, NEXN, PDLIM3, RAF1, RYR2, SLC25A4, TCAP, TTR, VCL | Molecular Diagnostics / PCR |
| CDT1, CDC6, GMNN, ORC1, ORC4, ORC6, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDK5, CDK5RAP2, CDK6, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RNU4ATAC RMI1, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | CDT1, CDC6, GMNN, ORC1, ORC4, ORC6, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDK5, CDK5RAP2, CDK6, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RNU4ATAC RMI1, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Molecular Diagnostics / PCR |
| CHARGE-Syndrom: CHD7, SEMA3E, TBX1, TBX22 | CHARGE-Syndrom: CHD7, SEMA3E, TBX1, TBX22 | Molecular Diagnostics / PCR |
| CHCHD10, CHMP2B, CSF1R, FUS, GRN, HNRNPA2B1, ITM2B, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TBP, TREM2, UBQLN2, VCP | CHCHD10, CHMP2B, CSF1R, FUS, GRN, HNRNPA2B1, ITM2B, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TBP, TREM2, UBQLN2, VCP | Molecular Diagnostics / PCR |
| CHD8, DNMT3A, EZH2, NSD1, NFIX, PTEN | CHD8, DNMT3A, EZH2, NSD1, NFIX, PTEN | Molecular Diagnostics / PCR |
| CHOPS-Syndrom: AFF4 | CHOPS-Syndrom: AFF4 | Molecular Diagnostics / PCR |
| COL11A1, COL11A2, COL18A1, COL2A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, FBN1, FZD4, LRP2, LRP5, P3H2, VCAN | COL11A1, COL11A2, COL18A1, COL2A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, FBN1, FZD4, LRP2, LRP5, P3H2, VCAN | Molecular Diagnostics / PCR |
| COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 | Molecular Diagnostics / PCR |
| CREBBP, EP300 | CREBBP, EP300 | Molecular Diagnostics / PCR |
| Chondrodysplasien mit ausgeprägtem | Chondrodysplasien mit ausgeprägtem | Molecular Diagnostics / PCR |
| Chorea Huntington (HD) | Chorea Huntington (HD) | Molecular Diagnostics / PCR |
| Choreatiforme Bewegungsstörungen | Choreatiforme Bewegungsstörungen | Molecular Diagnostics / PCR |
| Clouston-Syndrom | Clouston-Syndrom | Molecular Diagnostics / PCR |
| Cockayne-Syndrom (CS): ERCC6, ERCC8, ERCC4, ERCC5, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, FAM111A, FANCA, FANCB (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, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | Cockayne-Syndrom (CS): ERCC6, ERCC8, ERCC4, ERCC5, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, FAM111A, FANCA, FANCB (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, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | Molecular Diagnostics / PCR |
| Coffin-Siris-Syndrom: ARID1B, ARID1A, ARID2, DPF2, SMARCB1, SMARCA4, SMARCE1, SMARCA2, SOX11 | Coffin-Siris-Syndrom: ARID1B, ARID1A, ARID2, DPF2, SMARCB1, SMARCA4, SMARCE1, SMARCA2, SOX11 | Molecular Diagnostics / PCR |
| Cohen-Syndrom (COH): VPS13B | Cohen-Syndrom (COH): VPS13B | Molecular Diagnostics / PCR |
| Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Molecular Diagnostics / PCR |
| Costello-Syndrom (CSTLO): HRAS | Costello-Syndrom (CSTLO): HRAS | Molecular Diagnostics / PCR |
| Cutis laxa assoziierte Syndrome | Cutis laxa assoziierte Syndrome | Molecular Diagnostics / PCR |
| Cystische Fibrose (CF): CFTR | Cystische Fibrose (CF): CFTR | Molecular Diagnostics / PCR |
| DIS3L2 | DIS3L2 | Molecular Diagnostics / PCR |
| Demenz (Basis): APOE, APP, CHMP2B, CSF1R, GRN, ITM2B, MAPT, NOTCH3, PSEN1, SQSTM1, TARDBP, VCP | Demenz (Basis): APOE, APP, CHMP2B, CSF1R, GRN, ITM2B, MAPT, NOTCH3, PSEN1, SQSTM1, TARDBP, VCP | Molecular Diagnostics / PCR |
| DiGeorge-Syndrom (DGS): TBX1 | DiGeorge-Syndrom (DGS): TBX1 | Molecular Diagnostics / PCR |
| Duane-Radial Ray-Syndrom (DRRS) | Duane-Radial Ray-Syndrom (DRRS) | Molecular Diagnostics / PCR |
| Dyskeratosis Congenita (DKC): ACD, DKC1, NOLA2, NOLA3, PARN, RTEL1, TERC, TERT, TINF2, WRAP53, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Dyskeratosis Congenita (DKC): ACD, DKC1, NOLA2, NOLA3, PARN, RTEL1, TERC, TERT, TINF2, WRAP53, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Dysplasie, kranio-metaphysäre | Dysplasie, kranio-metaphysäre | Molecular Diagnostics / PCR |
| Dysplasie, trichorhinophalangeales | Dysplasie, trichorhinophalangeales | Molecular Diagnostics / PCR |
| Dystonie-Plus-Syndrom: ATP1A3, BCAP31, COX20, FTL, GCH1, KIF1C, PRKRA, SLC30A10, SGCE, SPR, TAF1, TH, TUBB4A | Dystonie-Plus-Syndrom: ATP1A3, BCAP31, COX20, FTL, GCH1, KIF1C, PRKRA, SLC30A10, SGCE, SPR, TAF1, TH, TUBB4A | Molecular Diagnostics / PCR |
| 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 | 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 |
| Early-onset Ataxie: APTX, FXN, POU4F1, SACS | Early-onset Ataxie: APTX, FXN, POU4F1, SACS | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (vaskuläre Form): COL3A1, ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | Ehlers-Danlos-Syndrom (vaskuläre Form): COL3A1, ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Molecular Diagnostics / PCR |
| Episodische Ataxie: CACNA1A, CACNB4, KCNA1,SCN2A, SLC1A3 | Episodische Ataxie: CACNA1A, CACNB4, KCNA1,SCN2A, SLC1A3 | Molecular Diagnostics / PCR |
| Familiäre Skeletterkrankungen | Familiäre Skeletterkrankungen | Molecular Diagnostics / PCR |
| Familiäre hypokalzurische | Familiäre hypokalzurische | Molecular Diagnostics / PCR |
| Familiäre neurodegenerative | Familiäre neurodegenerative | Molecular Diagnostics / PCR |
| Familiärer Brust- und Eierstockkrebs | Familiärer Brust- und Eierstockkrebs | Molecular Diagnostics / PCR |
| Familiäres Mittelmeerfieber, autosomal-rezessiv | Familiäres Mittelmeerfieber, autosomal-rezessiv | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FA): BRCA2, FANCA, FANCC, FANCD2, FANCE, XRCC9 (FANCG), ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95 | Fanconi-Anämie (FA): BRCA2, FANCA, FANCC, FANCD2, FANCE, XRCC9 (FANCG), ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95 | Molecular Diagnostics / PCR |
| Filippi-Syndrom (FS): CKAP2L, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Filippi-Syndrom (FS): CKAP2L, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Molecular Diagnostics / PCR |
| Flecked Retina Erkrankungen: ABCA4, CHM, CYP4V2, EFEMP1, ELOVL4, KCNJ13, OAT, PLA2G5, PROM1, PRPH2, RDH5, RHO, RLBP1, RPE65, RS1, VPS13B | Flecked Retina Erkrankungen: ABCA4, CHM, CYP4V2, EFEMP1, ELOVL4, KCNJ13, OAT, PLA2G5, PROM1, PRPH2, RDH5, RHO, RLBP1, RPE65, RS1, VPS13B | Molecular Diagnostics / PCR |
| Fragiles X-Syndrom: FMR1 | Fragiles X-Syndrom: FMR1 | Molecular Diagnostics / PCR |
| Friedreichsche Ataxie (FRDA) | Friedreichsche Ataxie (FRDA) | Molecular Diagnostics / PCR |
| 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 | 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 |
| Gefäßbeteiligung: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, LTPB2, MYH11, MYLK, MYLK2, NOTCH1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | Gefäßbeteiligung: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, LTPB2, MYH11, MYLK, MYLK2, NOTCH1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| Glass-Syndrom: SATB2 | Glass-Syndrom: SATB2 | Molecular Diagnostics / PCR |
| Glut1-Defizienz-Syndrom | Glut1-Defizienz-Syndrom | Molecular Diagnostics / PCR |
| H19, KCNQ1OT1, CDKN1C, NSD1, ICR1 | H19, KCNQ1OT1, CDKN1C, NSD1, ICR1 | Molecular Diagnostics / PCR |
| HEPACAM, MLC1 | HEPACAM, MLC1 | Molecular Diagnostics / PCR |
| Hereditäre Motorische Neuropathie | Hereditäre Motorische Neuropathie | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie | Hereditäre spastische Paraplegie | Molecular Diagnostics / PCR |
| Hereditäres Prostatakarzinom | Hereditäres Prostatakarzinom | Molecular Diagnostics / PCR |
| Hirschsprung: L1CAM | Hirschsprung: L1CAM | Molecular Diagnostics / PCR |
| Hydrozephalus mit Morbus | Hydrozephalus mit Morbus | Molecular Diagnostics / PCR |
| Hypercholestrinämie | Hypercholestrinämie | Molecular Diagnostics / PCR |
| Hyperinsulinämische Hypoglykämie | Hyperinsulinämische Hypoglykämie | Molecular Diagnostics / PCR |
| Hyperkalzämie (HHC): CASR, AP2S1, GNA11 | Hyperkalzämie (HHC): CASR, AP2S1, GNA11 | Molecular Diagnostics / PCR |
| Hämorrhagische Teleangiektasie | Hämorrhagische Teleangiektasie | Molecular Diagnostics / PCR |
| Joubert-Syndrom 12, Akrokallosales | Joubert-Syndrom 12, Akrokallosales | Molecular Diagnostics / PCR |
| KBG-Syndrom (KBGS): ANKRD11 | KBG-Syndrom (KBGS): ANKRD11 | 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 |
| KIT, MAX, MEN1, NF1, PDGFRA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 | KIT, MAX, MEN1, NF1, PDGFRA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 | Molecular Diagnostics / PCR |
| Kabuki-Syndrom: KMT2D, KDM6A, RAP1A, RAP1B | Kabuki-Syndrom: KMT2D, KDM6A, RAP1A, RAP1B | Molecular Diagnostics / PCR |
| Kallmann-Syndrom / Isolierter | Kallmann-Syndrom / Isolierter | Molecular Diagnostics / PCR |
| Kardiomyopathie / Dysplasie | Kardiomyopathie / Dysplasie | Molecular Diagnostics / PCR |
| Kardiomyopathie, hypertroph | Kardiomyopathie, hypertroph | Molecular Diagnostics / PCR |
| Kleinwuchs, mikrozephaler | Kleinwuchs, mikrozephaler | Molecular Diagnostics / PCR |
| Knochenmineraldichte (OEN): ALPL, COL1A1 , COL1A2, DKK1, IFITM5, LRP5, LRP6, MBTPS2, PLS3, SGMS2, WNT1 | Knochenmineraldichte (OEN): ALPL, COL1A1 , COL1A2, DKK1, IFITM5, LRP5, LRP6, MBTPS2, PLS3, SGMS2, WNT1 | Molecular Diagnostics / PCR |
| Komplex | Komplex | Molecular Diagnostics / PCR |
| Kosaki-Syndrom: PDGFRB | Kosaki-Syndrom: PDGFRB | Molecular Diagnostics / PCR |
| Kraniosynostose mit prominenter | Kraniosynostose mit prominenter | Molecular Diagnostics / PCR |
| Kraniosynostosen (CRAN): FGFR1, FGFR2, FGFR3, GLI3, MEGF8, RAB23, TWIST1, ADAMTS10, ALX1, ALX3, ALX4, CD96, EFNB1, ERF, IFT122, IFT43, IL11RA, LRP2, MN1, P4HB, POR, RECQL4, RUNX2, SEC24D, SKI, SMO, WDR19, WDR35, ZIC1 | Kraniosynostosen (CRAN): FGFR1, FGFR2, FGFR3, GLI3, MEGF8, RAB23, TWIST1, ADAMTS10, ALX1, ALX3, ALX4, CD96, EFNB1, ERF, IFT122, IFT43, IL11RA, LRP2, MN1, P4HB, POR, RECQL4, RUNX2, SEC24D, SKI, SMO, WDR19, WDR35, ZIC1 | Molecular Diagnostics / PCR |
| Krämpfe-Skoliose-Makrozephalie | Krämpfe-Skoliose-Makrozephalie | Molecular Diagnostics / PCR |
| LAGE3, OSGEP, TP53RK, TPRKB | LAGE3, OSGEP, TP53RK, TPRKB | Molecular Diagnostics / PCR |
| LIG4-Syndrom: LIG4, XRCC4, BLM, DDX11, FANCD2, NBN, NHEJ1, PCNA, PPM1D, RAD50, ANKLE2, ARX, ASPM, ATR, ATRIP, B9D1, 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 | LIG4-Syndrom: LIG4, XRCC4, BLM, DDX11, FANCD2, NBN, NHEJ1, PCNA, PPM1D, RAD50, ANKLE2, ARX, ASPM, ATR, ATRIP, B9D1, 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 |
| 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 |
| Leopard-Syndrom (LPRD): BRAF, PTPN11,RAF1 | Leopard-Syndrom (LPRD): BRAF, PTPN11,RAF1 | Molecular Diagnostics / PCR |
| Leukenzephalopathien: AARS1, AARS2, ACBD5, ACOX1, ADAR, ALDH3A2, BCAP31, CLCN2, CTC1, CTSA, EARS2, EIF2AK2, FAM126A, FUCA1, GBE1, GCDH, HIKESHI, HSD17B4, HSPD1, IFIH1, L2HGDH, NAXE, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PLEKHG2, POLR1C, POLR3A, POLR3B, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, STN1, SUMF1,TMEM106B, TREX1, VPS11 | Leukenzephalopathien: AARS1, AARS2, ACBD5, ACOX1, ADAR, ALDH3A2, BCAP31, CLCN2, CTC1, CTSA, EARS2, EIF2AK2, FAM126A, FUCA1, GBE1, GCDH, HIKESHI, HSD17B4, HSPD1, IFIH1, L2HGDH, NAXE, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PLEKHG2, POLR1C, POLR3A, POLR3B, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, STN1, SUMF1,TMEM106B, TREX1, VPS11 | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom | Li-Fraumeni-Syndrom | Molecular Diagnostics / PCR |
| Linsenluxation: ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, CBS, COL11A1, COL18A1, COL2A1, FBN1, LTBP2, P3H2, VCAN, VSX2 | Linsenluxation: ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, CBS, COL11A1, COL18A1, COL2A1, FBN1, LTBP2, P3H2, VCAN, VSX2 | Molecular Diagnostics / PCR |
| Lipodystrophie (LD): AGPAT2, BSCL2, CAV1, CIDEC, LIPE, PLIN1, PPARG, PTRF, FBN1, LMNA, ZMPSTE24, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1, CHD6, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Lipodystrophie (LD): AGPAT2, BSCL2, CAV1, CIDEC, LIPE, PLIN1, PPARG, PTRF, FBN1, LMNA, ZMPSTE24, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1, CHD6, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Molecular Diagnostics / PCR |
| MED12 | MED12 | Molecular Diagnostics / PCR |
| MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | Molecular Diagnostics / PCR |
| MTOR | MTOR | Molecular Diagnostics / PCR |
| Makrozephalie mit Makrosomie | Makrozephalie mit Makrosomie | Molecular Diagnostics / PCR |
| Makrozephalie, Suszeptibilität für | Makrozephalie, Suszeptibilität für | Molecular Diagnostics / PCR |
| Makrozephalie, X-chromosomal | Makrozephalie, X-chromosomal | Molecular Diagnostics / PCR |
| Makrozephalie, autosomal rezessiv | Makrozephalie, autosomal rezessiv | Molecular Diagnostics / PCR |
| Malignes Melanom: CDKN2A, BAP1, BRCA2, POT1 | Malignes Melanom: CDKN2A, BAP1, BRCA2, POT1 | Molecular Diagnostics / PCR |
| Marfan-Lipodystrophie-Syndrom | Marfan-Lipodystrophie-Syndrom | Molecular Diagnostics / PCR |
| Marfan-Syndrom: FBN1, TGFBR1, TGFBR2, ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFB2 | Marfan-Syndrom: FBN1, TGFBR1, TGFBR2, ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFB2 | Molecular Diagnostics / PCR |
| Maturity-onset diabetes of the | Maturity-onset diabetes of the | Molecular Diagnostics / PCR |
| Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Molecular Diagnostics / PCR |
| Megalenzephalen | Megalenzephalen | Molecular Diagnostics / PCR |
| Mental retardation, autosomal | Mental retardation, autosomal | Molecular Diagnostics / PCR |
| Mentale Retardierung | Mentale Retardierung | Molecular Diagnostics / PCR |
| Microphthalmie (MCOP): ABCB6, ALDH1A3, ALX1, ALX3, ALX4, BCOR, BMP4, BMP7, CENPF, CHD6, CHD7, CRIM1, FAM111A, FOXE3, FREM1, GDF3, GDF6, GLI2, HCCS, HMGB3, HIST1H2BJ, KDM6A, KMT2D, LRP5, MAB21L2, MFRP, MIR204, MITF, NAA10, NDP, OTX2, PAX6, PORCN, PRSS56, RARB, RAX, RBP4, SALL2, SALL4, SHH, SIX6, SMC2, SMC4, SMCHD1, SMO, SMOC1, SOX2, STRA6, TCTN2, TENM3, TFAP2A, VAX1, VSX2 | Microphthalmie (MCOP): ABCB6, ALDH1A3, ALX1, ALX3, ALX4, BCOR, BMP4, BMP7, CENPF, CHD6, CHD7, CRIM1, FAM111A, FOXE3, FREM1, GDF3, GDF6, GLI2, HCCS, HMGB3, HIST1H2BJ, KDM6A, KMT2D, LRP5, MAB21L2, MFRP, MIR204, MITF, NAA10, NDP, OTX2, PAX6, PORCN, PRSS56, RARB, RAX, RBP4, SALL2, SALL4, SHH, SIX6, SMC2, SMC4, SMCHD1, SMO, SMOC1, SOX2, STRA6, TCTN2, TENM3, TFAP2A, VAX1, VSX2 | Molecular Diagnostics / PCR |
| Mikrocornea, myopische chorioretinale | Mikrocornea, myopische chorioretinale | Molecular Diagnostics / PCR |
| Molybdän-Cofaktor Defizienz | Molybdän-Cofaktor Defizienz | Molecular Diagnostics / PCR |
| Morbus Osler / Hereditäre | Morbus Osler / Hereditäre | Molecular Diagnostics / PCR |
| Multigenpanel für Plasmazellneoplasien | Multigenpanel für Plasmazellneoplasien | Molecular Diagnostics / PCR |
| 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 | 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 |
| NF1; V. a. Neurofibromatose | NF1; V. a. Neurofibromatose | Molecular Diagnostics / PCR |
| NMNAT1, OTX2, PDE6G, PRPH2, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, USP45 | NMNAT1, OTX2, PDE6G, PRPH2, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, USP45 | Molecular Diagnostics / PCR |
| NSD1; Sotos-Syndrom | NSD1; Sotos-Syndrom | Molecular Diagnostics / PCR |
| Nestor-Guillermo-Progerie-Syndrom | Nestor-Guillermo-Progerie-Syndrom | Molecular Diagnostics / PCR |
| Neuroakanthozytose: PANK2, VPS13A, XK | Neuroakanthozytose: PANK2, VPS13A, XK | Molecular Diagnostics / PCR |
| Neuropathien (HMSN/CMT), Distale | Neuropathien (HMSN/CMT), Distale | Molecular Diagnostics / PCR |
| Nicht-papilläres Nierenzellkarzinom | Nicht-papilläres Nierenzellkarzinom | Molecular Diagnostics / PCR |
| Nicolaides-Baraitser-Syndrom | Nicolaides-Baraitser-Syndrom | Molecular Diagnostics / PCR |
| Nierenzellkarzinom (FH) | Nierenzellkarzinom (FH) | Molecular Diagnostics / PCR |
| Non-compaction Kardiomyopathie | Non-compaction Kardiomyopathie | Molecular Diagnostics / PCR |
| Okihiro-Syndrom: SALL4 | Okihiro-Syndrom: SALL4 | Molecular Diagnostics / PCR |
| Okulodentodigitale Dysplasie | Okulodentodigitale Dysplasie | Molecular Diagnostics / PCR |
| Optikusatrophie und Leber´sche | Optikusatrophie und Leber´sche | Molecular Diagnostics / PCR |
| Osteopetrose / erhöhte | Osteopetrose / erhöhte | Molecular Diagnostics / PCR |
| Osteoporose/Erniedrigte | Osteoporose/Erniedrigte | Molecular Diagnostics / PCR |
| PHYH, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 | PHYH, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 | Molecular Diagnostics / PCR |
| PMP22 | PMP22 | Molecular Diagnostics / PCR |
| PRKRA, PRRT2, SGCE, SLC2A1, TH, THAP1, TOR1A | PRKRA, PRRT2, SGCE, SLC2A1, TH, THAP1, TOR1A | Molecular Diagnostics / PCR |
| PTEN | PTEN | Molecular Diagnostics / PCR |
| PTPN11, A2ML1, BRAF, CBL, CDC42, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS,RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1 | PTPN11, A2ML1, BRAF, CBL, CDC42, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS,RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1 | Molecular Diagnostics / PCR |
| Paragangliome / Multiple endokrine | Paragangliome / Multiple endokrine | Molecular Diagnostics / PCR |
| Paraplegie (HSP): ALS2, SETX, SPG11, SOD1, TARDBP | Paraplegie (HSP): ALS2, SETX, SPG11, SOD1, TARDBP | Molecular Diagnostics / PCR |
| Parkinson-Dystonie: ATP1A3, DNAJC12, GCH1*, PLA2G6, PRKRA, SLC30A10, SPR, SLC39A14, SLC6A3, TAF1, TH | Parkinson-Dystonie: ATP1A3, DNAJC12, GCH1*, PLA2G6, PRKRA, SLC30A10, SPR, SLC39A14, SLC6A3, TAF1, TH | Molecular Diagnostics / PCR |
| Polyhydramnion, Megalenzephalie | Polyhydramnion, Megalenzephalie | Molecular Diagnostics / PCR |
| Polyposis, unbestimmt: APC, MSH3, MUTYH, NTHL1, POLD1, POLE, BMPR1A, ENG, GREM1, MLH1, MSH2, MSH6, PMS2, PTEN, RNF43, SMAD4, STK11 | Polyposis, unbestimmt: APC, MSH3, MUTYH, NTHL1, POLD1, POLE, BMPR1A, ENG, GREM1, MLH1, MSH2, MSH6, PMS2, PTEN, RNF43, SMAD4, STK11 | Molecular Diagnostics / PCR |
| Primäre Mikrozephalie, rezessiv | Primäre Mikrozephalie, rezessiv | Molecular Diagnostics / PCR |
| Primäre Torsionsdystonie: ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A | Primäre Torsionsdystonie: ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A | Molecular Diagnostics / PCR |
| Proteus-Syndrom: AKT1 | Proteus-Syndrom: AKT1 | Molecular Diagnostics / PCR |
| Prädisposition für Eierstockkrebs | Prädisposition für Eierstockkrebs | Molecular Diagnostics / PCR |
| RAF1, RBM20, SCN5A, SGCD, TBX20, TBX5, TCAP, TMPO, TNNC1, TNNI3, TTR, VCL | RAF1, RBM20, SCN5A, SGCD, TBX20, TBX5, TCAP, TMPO, TNNC1, TNNI3, TTR, VCL | Molecular Diagnostics / PCR |
| REEP1, SBF1, SBF2/MTMR13, SCN11A, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TDP1, TFG, TRIM2, TRPV4, VCP, WNK1, YARS | REEP1, SBF1, SBF2/MTMR13, SCN11A, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TDP1, TFG, TRIM2, TRPV4, VCP, WNK1, YARS | Molecular Diagnostics / PCR |
| RIN2 | RIN2 | Molecular Diagnostics / PCR |
| RNF135 | RNF135 | Molecular Diagnostics / PCR |
| ROSAH-Syndrom: ALPK1 | ROSAH-Syndrom: ALPK1 | Molecular Diagnostics / PCR |
| RPS6KA3 | RPS6KA3 | Molecular Diagnostics / PCR |
| Retinitis pigmentosa, autosomal-rezessiv | Retinitis pigmentosa, autosomal-rezessiv | Molecular Diagnostics / PCR |
| Retinoblastom: RB1 | Retinoblastom: RB1 | Molecular Diagnostics / PCR |
| Rieger-Syndrom: ASPH, B3GLCT, COL4A1, COL4A2, CYP1B1, EYA1, FOXC1, FOXE3, GPATCH3, HMX1, LTBP2, MYOC, PAX6, PITX2, PXDN, SLC38A8 | Rieger-Syndrom: ASPH, B3GLCT, COL4A1, COL4A2, CYP1B1, EYA1, FOXC1, FOXE3, GPATCH3, HMX1, LTBP2, MYOC, PAX6, PITX2, PXDN, SLC38A8 | Molecular Diagnostics / PCR |
| Ritschner-Schintzel-Syndrom | Ritschner-Schintzel-Syndrom | Molecular Diagnostics / PCR |
| Robinow-Syndrom: WNT5A, DVL1, DVL3, ROR2, FGD1 | Robinow-Syndrom: WNT5A, DVL1, DVL3, ROR2, FGD1 | Molecular Diagnostics / PCR |
| Rothmund-Thomson-Syndrom | Rothmund-Thomson-Syndrom | Molecular Diagnostics / PCR |
| Ruijs-Aalfs-Syndrom (RAS): SPRTN, WRN, LMNA, POLD1, ZMPST24, 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, XPA, XPC | Ruijs-Aalfs-Syndrom (RAS): SPRTN, WRN, LMNA, POLD1, ZMPST24, 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, XPA, XPC | Molecular Diagnostics / PCR |
| SALL1, DACT1 | SALL1, DACT1 | Molecular Diagnostics / PCR |
| SETD2 | SETD2 | Molecular Diagnostics / PCR |
| SHANK3 | SHANK3 | Molecular Diagnostics / PCR |
| SNV, CNV, SV | SNV, CNV, SV | Molecular Diagnostics / PCR |
| SPRED1; V. a. Legius-Syndrom | SPRED1; V. a. Legius-Syndrom | Molecular Diagnostics / PCR |
| SRCAP | SRCAP | Molecular Diagnostics / PCR |
| STRADA | STRADA | Molecular Diagnostics / PCR |
| Schilddrüsenkarzinom: PTEN, RET, SDHB, SDHC, SDHD, APC, ATM, CHEK2, MEN1, MUTYH, SDHAF2, STK11 | Schilddrüsenkarzinom: PTEN, RET, SDHB, SDHC, SDHD, APC, ATM, CHEK2, MEN1, MUTYH, SDHAF2, STK11 | Molecular Diagnostics / PCR |
| Schuurs-Hoeijmakers-Syndrom | Schuurs-Hoeijmakers-Syndrom | Molecular Diagnostics / PCR |
| Seckel-Syndrom (SKS): CEP63, CEP152, CENPJ, CDK5RAP2, DNA2, RBBP8, TRAIP, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK6, CDT1, CENPE, CEP135, CKAP2L, DCX, DDX11, DHCR7, ERCC4, ERCC6, FAAP95 (FANCB), FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NEHJ1, NBN, NIN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RELN, RMI1, RNU4atac, RTTN, SASS6, SLX4, STIL, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Seckel-Syndrom (SKS): CEP63, CEP152, CENPJ, CDK5RAP2, DNA2, RBBP8, TRAIP, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK6, CDT1, CENPE, CEP135, CKAP2L, DCX, DDX11, DHCR7, ERCC4, ERCC6, FAAP95 (FANCB), FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NEHJ1, NBN, NIN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PCNT, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RELN, RMI1, RNU4atac, RTTN, SASS6, SLX4, STIL, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Molecular Diagnostics / PCR |
| Senior-Loken-Syndrom: CEP164, CEP290, INVS, IFT81, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TMEM67, TRAF3IP1, WDR19, ZNF423 | Senior-Loken-Syndrom: CEP164, CEP290, INVS, IFT81, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TMEM67, TRAF3IP1, WDR19, ZNF423 | Molecular Diagnostics / PCR |
| Septooptische Dysplasie | Septooptische Dysplasie | Molecular Diagnostics / PCR |
| Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Molecular Diagnostics / PCR |
| Short-Syndrom (STS): PIK3R1, AGPAT2, BSCL2, CAV1, CIDEC, FBN1, LIPE, LMNA, PLIN1, PPARG, PTRF, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1, CHD6, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Short-Syndrom (STS): PIK3R1, AGPAT2, BSCL2, CAV1, CIDEC, FBN1, LIPE, LMNA, PLIN1, PPARG, PTRF, ACD, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1, CHD6, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Simpson-Golabi-Behmel-Syndrom | Simpson-Golabi-Behmel-Syndrom | Molecular Diagnostics / PCR |
| Spastische Ataxien: AFG3L2, KIF1C, MARS2, SACS, SOX10, SPG7, VAMP1 | Spastische Ataxien: AFG3L2, KIF1C, MARS2, SACS, SOX10, SPG7, VAMP1 | Molecular Diagnostics / PCR |
| Spinocerebellare Ataxie (SCA) | Spinocerebellare Ataxie (SCA) | Molecular Diagnostics / PCR |
| Stickler-Syndrom und Sonstige | Stickler-Syndrom und Sonstige | Molecular Diagnostics / PCR |
| Symptomen (BSPS): BLM, PRKDC, SPRTN, WRN, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Symptomen (BSPS): BLM, PRKDC, SPRTN, WRN, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, BANF1, B3GALT6, B4GALT7, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Syndrom (BFLS): PHF6 | Syndrom (BFLS): PHF6 | Molecular Diagnostics / PCR |
| Syndrom (COFS): ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CDK5RAP2, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DNA2, ERCC4, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, KMT2B, LIG4, NHEJ1, NBN, ORC1, ORC4, ORC6, PALB2, PIEZO2, PCNA, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RMI1, RTTN, SLX4, STIL, TRAIP, WDR62, XRCC4, XRCC9 | Syndrom (COFS): ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CDK5RAP2, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DNA2, ERCC4, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, KMT2B, LIG4, NHEJ1, NBN, ORC1, ORC4, ORC6, PALB2, PIEZO2, PCNA, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RMI1, RTTN, SLX4, STIL, TRAIP, WDR62, XRCC4, XRCC9 | Molecular Diagnostics / PCR |
| Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Molecular Diagnostics / PCR |
| Syndrom (HPS), Serratiertes | Syndrom (HPS), Serratiertes | Molecular Diagnostics / PCR |
| Syndrom (LBS): ATM, MRE11A, PCNA, ACD, AGPAT2, ALDH18A1, ANO6, 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, LMNA, LMNB1,LTPB4, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | Syndrom (LBS): ATM, MRE11A, PCNA, ACD, AGPAT2, ALDH18A1, ANO6, 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, LMNA, LMNB1,LTPB4, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | Molecular Diagnostics / PCR |
| Syndrom (MCAP): PIC3CA | Syndrom (MCAP): PIC3CA | Molecular Diagnostics / PCR |
| Syndrom (MPPH1-3): PIK3R2, AKT3, CCND2 | Syndrom (MPPH1-3): PIK3R2, AKT3, CCND2 | Molecular Diagnostics / PCR |
| Syndrom (WRS): ANO6, CAV1, FBN1, LMNA, BANF1, PYCR1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, 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), FBLN5, HELLS, KCNJ6, LIPE, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC | Syndrom (WRS): ANO6, CAV1, FBN1, LMNA, BANF1, PYCR1, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, 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), FBLN5, HELLS, KCNJ6, LIPE, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC | Molecular Diagnostics / PCR |
| Tatton-Brown-Rahman-Syndrom | Tatton-Brown-Rahman-Syndrom | Molecular Diagnostics / PCR |
| Tenorio-Syndrom (TNORS): RNF125 | Tenorio-Syndrom (TNORS): RNF125 | Molecular Diagnostics / PCR |
| Thorakale Aortenerweiterung | Thorakale Aortenerweiterung | Molecular Diagnostics / PCR |
| Trichorhinophalangeales Syndrom | Trichorhinophalangeales Syndrom | Molecular Diagnostics / PCR |
| Usher-Syndrom: ABHD12, ADGRV1, ARSG, CDH23, CEP250, CIB2, CLRN1, GJB2, HARS, MYO7A, PCDH15, PDZD7, PRPH2, USH1C, USH1G, USH2A, WHRN | Usher-Syndrom: ABHD12, ADGRV1, ARSG, CDH23, CEP250, CIB2, CLRN1, GJB2, HARS, MYO7A, PCDH15, PDZD7, PRPH2, USH1C, USH1G, USH2A, WHRN | Molecular Diagnostics / PCR |
| Vaskulär-bedingte Demenz: COL4A1, HTRA1, NOTCH3, TREM2, TREX1, TYROBP | Vaskulär-bedingte Demenz: COL4A1, HTRA1, NOTCH3, TREM2, TREX1, TYROBP | Molecular Diagnostics / PCR |
| Weaver-Syndrom: EZH2, EED, SUZ12, HACE1, NSD1, NFIX | Weaver-Syndrom: EZH2, EED, SUZ12, HACE1, NSD1, NFIX | Molecular Diagnostics / PCR |
| Werner-Syndrom (WS): WRN, LMNA, POLD1, SPRTN, ZMPST24, 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, XPA, XPC | Werner-Syndrom (WS): WRN, LMNA, POLD1, SPRTN, ZMPST24, 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, XPA, XPC | Molecular Diagnostics / PCR |
| Whole Exome Sequencing | Whole Exome Sequencing | Molecular Diagnostics / PCR |
| Zapfendystrophie (Zapfen-Stäbchen- Dystrophie): ABCA4, ADAM9, AIPL1, ALMS1, ATF6, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CEP250, CERKL, CFAP410, CNGA3, CNGB3, CNNM4, CRB1, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, KCNV2, NMNAT1, NR2E3, NRL, PCARE, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RDH12, RGS9, RGS9BP, RIMS1, RPGR (inkl. ORF15), RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119 | Zapfendystrophie (Zapfen-Stäbchen- Dystrophie): ABCA4, ADAM9, AIPL1, ALMS1, ATF6, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CEP250, CERKL, CFAP410, CNGA3, CNGB3, CNNM4, CRB1, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, KCNV2, NMNAT1, NR2E3, NRL, PCARE, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RDH12, RGS9, RGS9BP, RIMS1, RPGR (inkl. ORF15), RPGRIP1, SEMA4A, TTLL5, TULP1, UNC119 | Molecular Diagnostics / PCR |
| autosomal-dominant | autosomal-dominant | Molecular Diagnostics / PCR |
| dominant (MRD32): KAT6A | dominant (MRD32): KAT6A | Molecular Diagnostics / PCR |
| dominant und x-gekoppelt: ARL3, BEST1, CA4, CACNA1F, CRX, FSCN2, GUCA1B, HK1, IMPDH1, KIF3B, KLHL7, NR2E3, NRL, OFD1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, SPP2, TOPORS | dominant und x-gekoppelt: ARL3, BEST1, CA4, CACNA1F, CRX, FSCN2, GUCA1B, HK1, IMPDH1, KIF3B, KLHL7, NR2E3, NRL, OFD1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, SPP2, TOPORS | Molecular Diagnostics / PCR |
| familiärer Brust-/ Eierstockkrebs | familiärer Brust-/ Eierstockkrebs | Molecular Diagnostics / PCR |
| frontonasale Dysplasie, parietale | frontonasale Dysplasie, parietale | Molecular Diagnostics / PCR |
| hypogonadotroper | hypogonadotroper | Molecular Diagnostics / PCR |
| isoliert auftretende Katarakt | isoliert auftretende Katarakt | Molecular Diagnostics / PCR |
| osteodysplastischer primordialer, Typ I und Typ 2 (MOPD1 und MOPD2 (MOPD)): PCNT, RNU4ATAC, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | osteodysplastischer primordialer, Typ I und Typ 2 (MOPD1 und MOPD2 (MOPD)): PCNT, RNU4ATAC, ANKLE2, ARX, ASPM, ATR, ATRIP, BLM, BRAT1, BRCA2, BRIP1, CASC5, CASK, CDC6, CDK5, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP63, CEP135, CEP152, CKAP2L, DDX11, DCX, DHCR7, DNA2, ERCC4, ERCC6, FAAP95, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PALB2, PCNA, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, XRCC9, ZNF335 | Molecular Diagnostics / PCR |
| und 2 (BOR1, BOR2): EYA1, SIX1, SIX5 | und 2 (BOR1, BOR2): EYA1, SIX1, SIX5 | Molecular Diagnostics / PCR |
| und 3 (TRPS1 und TRPS3): TRPS1 | und 3 (TRPS1 und TRPS3): TRPS1 | Molecular Diagnostics / PCR |
| young (MODY): ABCC8, APPL1, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 | young (MODY): ABCC8, APPL1, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 | Molecular Diagnostics / PCR |
| –Syndrom (SSMS): EXT2 | –Syndrom (SSMS): EXT2 | Molecular Diagnostics / PCR |
| (HCM): ACADVL , ACTC1, CSRP3, FHL1, MYBPC3, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, ACTN2, ANKRD1, CACNA1C, CALR3, CASQ2, CAV3, | (HCM): ACADVL , ACTC1, CSRP3, FHL1, MYBPC3, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, ACTN2, ANKRD1, CACNA1C, CALR3, CASQ2, CAV3, | Other |
| (SKELETT): ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS15, ADAMTS17, ADAMTS2, ADAMTSL2, APC2, AGPS, AIFM1, ALDH18A1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR1, ARHGAP31, ARL6, ARSB, ARSE, ASXL1, ATP6V0A2, ATP6V1E1, ATP6V1A, ATP7A, ATR, AXIN1, B3GALT6, B3GALTL, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BGN, BHLHA9, BMP1, BMP4, BMPER, BMPR1B, C12ORF57, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC8, CD96, CDC6, CDC45, CDC73, CDH3, | (SKELETT): ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS15, ADAMTS17, ADAMTS2, ADAMTSL2, APC2, AGPS, AIFM1, ALDH18A1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR1, ARHGAP31, ARL6, ARSB, ARSE, ASXL1, ATP6V0A2, ATP6V1E1, ATP6V1A, ATP7A, ATR, AXIN1, B3GALT6, B3GALTL, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BGN, BHLHA9, BMP1, BMP4, BMPER, BMPR1B, C12ORF57, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC8, CD96, CDC6, CDC45, CDC73, CDH3, | Other |
| (dHMN), Hereditäre Sensible und | (dHMN), Hereditäre Sensible und | Other |
| ,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | ,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, EFEMP2, ELN, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Other |
| Amyotrophe Lateralsklerose (ALS): | Amyotrophe Lateralsklerose (ALS): | Other |
| Atypische Parkinson-Erkrankung: | Atypische Parkinson-Erkrankung: | Other |
| Autonome Neuropathien (HSAN): | Autonome Neuropathien (HSAN): | Other |
| Baraitser-Winter-Syndrom (BRWS1): | Baraitser-Winter-Syndrom (BRWS1): | Other |
| Beckwith-Wiedemann-Syndrom: | Beckwith-Wiedemann-Syndrom: | Other |
| Bindegewebserkrankung mit | Bindegewebserkrankung mit | Other |
| Bindegewebserkrankungen mit | Bindegewebserkrankungen mit | Other |
| Coffin-Lowry-Syndrom (CLS): | Coffin-Lowry-Syndrom (CLS): | Other |
| Darmkrebs (CRC), unbestimmt: | Darmkrebs (CRC), unbestimmt: | Other |
| Dysosteosklerose, Osteopoikilose, Syndrom, Sklerosteose): AMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, LEMD3, LRP5, LRRK1, OSTM1, PLEKHM1, SNX10, SOST, TCIRG1, TGFB1, TNFSF11, TNFRSF11A | Dysosteosklerose, Osteopoikilose, Syndrom, Sklerosteose): AMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, LEMD3, LRP5, LRRK1, OSTM1, PLEKHM1, SNX10, SOST, TCIRG1, TGFB1, TNFSF11, TNFRSF11A | Other |
| Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, | Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, | Other |
| Ehlers-Danlos-Syndrom (EDS): | Ehlers-Danlos-Syndrom (EDS): | Other |
| Erbliche Schwerhörigkeit (DFN): | Erbliche Schwerhörigkeit (DFN): | Other |
| Erkrankungen (NEUROD): ACOX1, AARS2, ABCB7, ABCD1, ADAR, ADCK3, ADCY5, AFG3L2, ALDH3A2, ANG, ANO10, ANO3, ANXA11, APTX, ARSA, ASPA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP6AP2, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BEAN1, C21orf2, C9orf72, CA8, CACNA1A, CACNA1G, CACNB4, CASK, CCDC88C, CCNF, CHCHD10, CHCHD2, CHMP2B, CLN6, COL4A1, COMT, CP, CSF1R, CTSF, CWF19L1, CYP27A1, DAO, DAP12, DARS2, DCTN1, DJ1, DNAJC13, DNAJC3, DNAJC5, DNAJC6, DNMT1, EARS2, ECHS1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EPHA4, ERBB4, FAM126A, FBXO7, FGF12, FGF14, FIG4, FMR1, FRRS1L, FTL, FUCA1, FUS, FXN, GALC, GBA, GBE1, GCH1, GFAP, GJA1, GJC2, | Erkrankungen (NEUROD): ACOX1, AARS2, ABCB7, ABCD1, ADAR, ADCK3, ADCY5, AFG3L2, ALDH3A2, ANG, ANO10, ANO3, ANXA11, APTX, ARSA, ASPA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP6AP2, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BEAN1, C21orf2, C9orf72, CA8, CACNA1A, CACNA1G, CACNB4, CASK, CCDC88C, CCNF, CHCHD10, CHCHD2, CHMP2B, CLN6, COL4A1, COMT, CP, CSF1R, CTSF, CWF19L1, CYP27A1, DAO, DAP12, DARS2, DCTN1, DJ1, DNAJC13, DNAJC3, DNAJC5, DNAJC6, DNMT1, EARS2, ECHS1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EPHA4, ERBB4, FAM126A, FBXO7, FGF12, FGF14, FIG4, FMR1, FRRS1L, FTL, FUCA1, FUS, FXN, GALC, GBA, GBE1, GCH1, GFAP, GJA1, GJC2, | Other |
| Familiärer Brust- und | Familiärer Brust- und | Other |
| Familiärer Hyperinsulinismus / | Familiärer Hyperinsulinismus / | Other |
| Familiäres Pankreaskarzinom: | Familiäres Pankreaskarzinom: | Other |
| Floating-Harbor-Syndrom (FLHS): | Floating-Harbor-Syndrom (FLHS): | Other |
| Frontotemporale Demenz (FTD): | Frontotemporale Demenz (FTD): | Other |
| Galloway-Mowat-Syndrom (GMS): | Galloway-Mowat-Syndrom (GMS): | Other |
| Gastrointestinale Stromatumore: | Gastrointestinale Stromatumore: | Other |
| Hereditäre Neuropathie mit | Hereditäre Neuropathie mit | Other |
| Hornhautdystrophien/Keratoconus: | Hornhautdystrophien/Keratoconus: | Other |
| Hypercholesterinämie (primär): | Hypercholesterinämie (primär): | Other |
| Hypogonadismus (IHH): | Hypogonadismus (IHH): | Other |
| Infantile und juvenile Leukodystrophien: | Infantile und juvenile Leukodystrophien: | Other |
| Kardiofaziokutanes Syndrom (CFC): | Kardiofaziokutanes Syndrom (CFC): | Other |
| Kardiomyopathie, dilatativ (DCM): | Kardiomyopathie, dilatativ (DCM): | Other |
| Kardiomyopathie, restriktiv (RCM): | Kardiomyopathie, restriktiv (RCM): | Other |
| Keppen-Lubinsky-Syndrom (KLS): | Keppen-Lubinsky-Syndrom (KLS): | Other |
| Knochenmineraldichte (z.B. | Knochenmineraldichte (z.B. | Other |
| Kongenitale stationäre Nachtblindheit: | Kongenitale stationäre Nachtblindheit: | Other |
| Leber’sche kongenitale Amaurose: | Leber’sche kongenitale Amaurose: | Other |
| Lenz-Majewski-Syndrom (LMS): | Lenz-Majewski-Syndrom (LMS): | Other |
| Leukodystrophien und | Leukodystrophien und | Other |
| Leukoenzephalopathie mit | Leukoenzephalopathie mit | Other |
| Luscan-Lumish-Syndrom (LLS): | Luscan-Lumish-Syndrom (LLS): | Other |
| MACS-Syndrom / RIN2-Syndrom: | MACS-Syndrom / RIN2-Syndrom: | Other |
| Makrozephalie (Basisdiagnostik): | Makrozephalie (Basisdiagnostik): | Other |
| Makrozephalie- Gesamt-Diagnostik: | Makrozephalie- Gesamt-Diagnostik: | Other |
| Makuladystrophien / Morbus Stargardt: | Makuladystrophien / Morbus Stargardt: | Other |
| Mandibuloakrale Dysplasie (MAD): | Mandibuloakrale Dysplasie (MAD): | Other |
| Meier-Gorlin-Syndrom (MGS): | Meier-Gorlin-Syndrom (MGS): | Other |
| Multiple epiphysäre Dysplasie / | Multiple epiphysäre Dysplasie / | Other |
| Myopie und Differentialdiagnosen: | Myopie und Differentialdiagnosen: | Other |
| Neigung zu Druckparesen (HNPP): | Neigung zu Druckparesen (HNPP): | Other |
| Neurodegeneration mit | Neurodegeneration mit | Other |
| Neuronale Ceroidlipofuszinose: | Neuronale Ceroidlipofuszinose: | Other |
| Nijmegen-Breakage-Syndrom (NBS): | Nijmegen-Breakage-Syndrom (NBS): | Other |
| Opitz-Kaveggia-Syndrom (OKS): | Opitz-Kaveggia-Syndrom (OKS): | Other |
| Osteogenesis Imperfecta (OI) / | Osteogenesis Imperfecta (OI) / | Other |
| Parkinson-Erkrankung, unbestimmt: | Parkinson-Erkrankung, unbestimmt: | Other |
| Perlman-Syndrom (PRLNMS): | Perlman-Syndrom (PRLNMS): | Other |
| Phelan-McDermid-Syndrom: | Phelan-McDermid-Syndrom: | Other |
| Phäochromozytome und | Phäochromozytome und | Other |
| Primäre Mikrozephalie (MCPH): | Primäre Mikrozephalie (MCPH): | Other |
| Progerie Typ Penttinen (PTP): | Progerie Typ Penttinen (PTP): | Other |
| Rasopathien/Noonan-Syndrom: | Rasopathien/Noonan-Syndrom: | Other |
| Rubinstein-Taybi-Syndrom (RSTS): | Rubinstein-Taybi-Syndrom (RSTS): | Other |
| Smith-Kingsmore-Syndrom (SKS): | Smith-Kingsmore-Syndrom (SKS): | Other |
| Störungen des Kalzium- und | Störungen des Kalzium- und | Other |
| Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: | Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: | Other |
| Townes-Brocks-Syndrom (TBS): | Townes-Brocks-Syndrom (TBS): | Other |
| Xeroderma pigmentosum (XP): | Xeroderma pigmentosum (XP): | Other |
| hereditäre Optikusneuropathie (LHON): | hereditäre Optikusneuropathie (LHON): | Other |
| polyposes Kolorektalkarzinom: | polyposes Kolorektalkarzinom: | Other |
| subkortikalen Zysten (MLC): | subkortikalen Zysten (MLC): | Other |
| 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) | 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 |
| ventrikuläre Tachykardie (CPVT): | ventrikuläre Tachykardie (CPVT): | Other |
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