ScopeUniversitätsmedizin Göttingen MVZ der UMG, Bereich Humangenetik
312 capabilities
Accredited since May 2025
Verified Oct 2026
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Heinrich-Düker-Weg 12
Göttingen 37073 , Germany
Göttingen 37073 , Germany
Accreditation
Active
DAkkS
D-ML-13161-06-00
humangenetik.umg.eu/en/genetic-testing/
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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 (312)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| Catecholaminerge polymorphe | Catecholaminerge polymorphe | Elemental Analysis |
| Hereditäre Motorisch-Sensible | Hereditäre motorisch-sensible | Elemental Analysis |
| (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 |
| (EXOSC2, EYS, FAM161A, FBLN5, FCSK, FDXR, FLVCR1, FOXF2, FZD4, GALNS, GDF6, GLB1, GNAT1, GNAT2, GNB3, GNPTAB, GNPTG, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HADHA, HARS1, HGSNAT, HK1, HMX1, HPS3, HPS4, Hypersensitive_Site(PRDM13), IDH3A, IDH3B, IDS, IDUA, IFT140, IFT172, IFT27, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, | (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 |
| (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), FBLN5, HELLS, KCNJ6, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, POLD1, POLH, PRKDC, PTDSS1, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, 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 |
| (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 |
| (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, HELLS, KCNJ6, LIPE, LMNA, LMNB1, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 | 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 |
| (RCM): ID105 | Kardiomyopathie, restriktiv (RCM) | 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 |
| 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 |
| Aarskog-Syndrom: FGD1 | Aarskog-Syndrom: FGD1 | Molecular Diagnostics / PCR |
| Abruzzo-Erickson-Syndrom (ABERS), CHARGE-like Syndrom: TBX22 | Abruzzo-Erickson-Syndrom (ABERS), CHARGE-like Syndrom: TBX22 | 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 | 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 |
| Amyotrophe Lateralsklerose (ALS): | Amyotrophe Lateralsklerose (ALS) | Molecular Diagnostics / PCR |
| Arrythmogene rechtsventrikuläre | Arrythmogene rechtsventrikuläre | Molecular Diagnostics / PCR |
| Ataxia-Teleangiektasia/Louis-Bar- 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 | Ataxia-Teleangiektasia/Louis-Bar- 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 |
| Ataxie, autosomal-dominant | Ataxie, autosomal-dominant: AFG3L2, EEF2, FGF14, KCNC3, KCND3, PDYN, PUM1, PRKCG, SPTBN2, TGM6, TMEM240, TTBK2, VAMP1 | Molecular Diagnostics / PCR |
| Ataxie, autosomal-rezessiv | 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 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 |
| B3GALT6, B4GALT7, CHST14; COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 | B3GALT6, B4GALT7, CHST14; COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 | 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 |
| Baraitser-Winter-Syndrom (BRWS1): | Baraitser-Winter-Syndrom (BRWS1) | Molecular Diagnostics / PCR |
| Bardet-Biedl-Syndrom | 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 |
| Beckwith-Wiedemann Syndrom | Beckwith-Wiedemann-Syndrom | Molecular Diagnostics / PCR |
| Bindegewebserkrankung mit Gefäßbeteiligung: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, LTPB2, MYH11, MYLK, MYLK2, NOTCH1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | Bindegewebserkrankung mit Gefäßbeteiligung: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, LTPB2, MYH11, MYLK, MYLK2, NOTCH1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 | Molecular Diagnostics / PCR |
| Bindegewebserkrankungen mit Kontrakturen (z.B. Bruck-Syndrom, Weill- Marchesani-Syndrom): ADAMTS10, FBN1, FBN2, FKBP10, PLOD2 , PLOD3 | Bindegewebserkrankungen mit Kontrakturen (z.B. Bruck-Syndrom, Weill- Marchesani-Syndrom): ADAMTS10, FBN1, FBN2, FKBP10, PLOD2 , PLOD3 | 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 |
| Borjeson-Forssman-Lehmann- Syndrom (BFLS): PHF6 | Borjeson-Forssman-Lehmann- Syndrom (BFLS): PHF6 | Molecular Diagnostics / PCR |
| Branchiooto(renales) Syndrom 1 und 2 (BOR1, BOR2): EYA1, SIX1, SIX5 | Branchiooto(renales) Syndrom 1 und 2 (BOR1, BOR2): EYA1, SIX1, SIX5 | Molecular Diagnostics / PCR |
| Brittle Cornea-Syndrom: ZNF469 | Brittle Cornea-Syndrom: ZNF469 | Molecular Diagnostics / PCR |
| Brugada Syndrom | Brugada-Syndrom: CACNA1C, CACNA2D1, CACNB2, PKP2, SCN1B, SCN5A, TRPM4, AKAP9, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Molecular Diagnostics / PCR |
| Brust- und Eierstockkrebs | Familiärer Brust- und Eierstockkrebs | 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 |
| 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 | 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 |
| CREBBP, EP300 | CREBBP, EP300 | Molecular Diagnostics / PCR |
| Chondrodysplasien (z.B. kleidokraniale Dysplasie, trichorhinophalangeales Syndrom): COL2A1, COL9A1, COL9A2, COL10A1, COL11A1, COL11A2, RUNX2, TRAPPC2, TRPS1, TRPS2, TRPV4 | Chondrodysplasien (z.B. kleidokraniale Dysplasie, trichorhinophalangeales Syndrom): COL2A1, COL9A1, COL9A2, COL10A1, COL11A1, COL11A2, RUNX2, TRAPPC2, TRPS1, TRPS2, TRPV4 | Molecular Diagnostics / PCR |
| Chondrodysplasien mit ausgeprägtem | Chondrodysplasien mit ausgeprägtem | Molecular Diagnostics / PCR |
| Chorea Huntington (HD) | Chorea Huntington (HD) | Molecular Diagnostics / PCR |
| Choreatiforme Bewegungsstörungen (Dyskinesie): ADCY5, KCNA1, KCNMA1, NKX2-1, PDE10A, PDE8B, PNKD, PRNP, PRRT2, RNF216, SLC2A1 | Choreatiforme Bewegungsstörungen (Dyskinesie): ADCY5, KCNA1, KCNMA1, NKX2-1, PDE10A, PDE8B, PNKD, PRNP, PRRT2, RNF216, SLC2A1 | 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-Lowry-Syndrom (CLS): | Coffin-Lowry-Syndrom (CLS) | Molecular Diagnostics / PCR |
| Coffin-Siris Syndrom | 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 | 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 (ADCL1) / Williams- Beuren-Syndrom (WBS): ELN | Cutis laxa (ADCL1) / Williams- Beuren-Syndrom (WBS): ELN | Molecular Diagnostics / PCR |
| Cutis laxa assoziierte Syndrome (CLS): ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PEX11B, PYCR1, ACD, AGPAT2, ANO6, ATM, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Cutis laxa assoziierte Syndrome (CLS): ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PEX11B, PYCR1, ACD, AGPAT2, ANO6, ATM, ATP7A, BANF1, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1,BSCL2, CAV1, CHD6, CIDEC, CISD2, DDB2, DKC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FANCA, FANCB | Molecular Diagnostics / PCR |
| Cystische Fibrose (CF): CFTR | Cystische Fibrose (CF): CFTR | 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 |
| DIS3L2 | DIS3L2 | Molecular Diagnostics / PCR |
| Darmkrebs (CRC), unbestimmt | Darmkrebs (CRC), unbestimmt | 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) / Okihiro-Syndrom: SALL4 | Duane-Radial Ray-Syndrom (DRRS) / Okihiro-Syndrom: SALL4 | 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 |
| Dysostosen der Extremitäten (z.B. Cenani-Lenz-Syndrom, Holt-Oram- Syndrom, Okihiro-Syndrom, Polydaktylie): ESCO, GLI3, LRP4, SALL1, SALL4, TBX3, TBX5, WNT3, ZRS-Region | Dysostosen der Extremitäten (z.B. Cenani-Lenz-Syndrom, Holt-Oram- Syndrom, Okihiro-Syndrom, Polydaktylie): ESCO, GLI3, LRP4, SALL1, SALL4, TBX3, TBX5, WNT3, ZRS-Region | Molecular Diagnostics / PCR |
| Dysplasie, kranio-metaphysäre (CMD): ANKH, GJA1 | Dysplasie, kranio-metaphysäre (CMD): ANKH, GJA1 | Molecular Diagnostics / PCR |
| Dystonie | Parkinson-Dystonie: ATP1A3, DNAJC12, GCH1*, PLA2G6, PRKRA, SLC30A10, SPR, SLC39A14, SLC6A3, TAF1, TH | Molecular Diagnostics / PCR |
| Dystonie | Primäre Torsionsdystonie: ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A | 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 |
| Early-onset Ataxie: APTX, FXN, POU4F1, SACS | Early-onset Ataxie: APTX, FXN, POU4F1, SACS | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (EDS), | Ehlers-Danlos-Syndrom (EDS) | 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 |
| Episodische Ataxie | Episodische Ataxie: CACNA1A, CACNB4, KCNA1,SCN2A, SLC1A3 | Molecular Diagnostics / PCR |
| Erbliche Schwerhörigkeit (DFN): | Erbliche Schwerhörigkeit (DFN) | Molecular Diagnostics / PCR |
| Familiäre Hypercholesterinämie (FH): APOB, LDLR, LDLRAP1, PCSK9 | Familiäre Hypercholesterinämie (FH): APOB, LDLR, LDLRAP1, PCSK9 | Molecular Diagnostics / PCR |
| Familiäre hypokalzurische | Familiäre hypokalzurische | Molecular Diagnostics / PCR |
| Familiäre neurodegenerative | Familiäre neurodegenerative | Molecular Diagnostics / PCR |
| Familiärer Hyperinsulinismus / Hyperinsulinämische Hypoglykämie (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | Familiärer Hyperinsulinismus / Hyperinsulinämische Hypoglykämie (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | Molecular Diagnostics / PCR |
| Familiäres Pankreaskarzinom: | Familiäres Pankreaskarzinom | 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 |
| Floating-Harbor-Syndrom (FLHS): | Floating-Harbor-Syndrom (FLHS) | Molecular Diagnostics / PCR |
| Fragiles X Syndrom: FMR1 | Fragiles X-Syndrom: FMR1 | Molecular Diagnostics / PCR |
| Friedreichsche Ataxie (FRDA) | Friedreichsche Ataxie (FRDA) | Molecular Diagnostics / PCR |
| Frontotemporale Demenz (FTD) | Frontotemporale Demenz (FTD) | Molecular Diagnostics / PCR |
| Galloway-Mowat-Syndrom (GMS): | Galloway-Mowat-Syndrom (GMS) | Molecular Diagnostics / PCR |
| Gastrointestinale Stromatumore: | Gastrointestinale Stromatumore: c-KIT Exon 9 (c.1504_1509dup) | Molecular Diagnostics / PCR |
| Glass-Syndrom: SATB2 | Glass-Syndrom: SATB2 | Molecular Diagnostics / PCR |
| Greig-Zephalopolysyndaktylie- Syndrom: GLI3, KIF7 | Greig-Zephalopolysyndaktylie- Syndrom: GLI3, KIF7 | 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 (HSP), X-chromosomal: ABCD1, L1CAM, PLP1, SLC16A2 | Hereditäre spastische Paraplegie (HSP), X-chromosomal: ABCD1, L1CAM, PLP1, SLC16A2 | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie (HSP), autosomal-dominant: ATL1 (SPG3A), BICD2, BSCL2, CPT1C, HSPD1, WASHC5 (SPG8), KIF5A, KPNA3, NIPA1, REEP1 (SPG31), RTN2, SLC33A1, SPAST* (SPG4), UBAP1, VAMP1, ZFYVE27 | Hereditäre spastische Paraplegie (HSP), autosomal-dominant: ATL1 (SPG3A), BICD2, BSCL2, CPT1C, HSPD1, WASHC5 (SPG8), KIF5A, KPNA3, NIPA1, REEP1 (SPG31), RTN2, SLC33A1, SPAST* (SPG4), UBAP1, VAMP1, ZFYVE27 | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie (HSP), autosomal-rezessiv: CYP7B1 (SPG5A), FA2H, GJC2, SPG11, SPG7*, ZFYVE26 | Hereditäre spastische Paraplegie (HSP), autosomal-rezessiv: CYP7B1 (SPG5A), FA2H, GJC2, SPG11, SPG7*, ZFYVE26 | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie (HSP), unbestimmt (Basis): ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST (SPG4), SPG7 | Hereditäre spastische Paraplegie (HSP), unbestimmt (Basis): ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST (SPG4), SPG7 | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie (HSP), unbestimmt (gesamt): ABCD1, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, BICD2, BSCL2, MTRFR, C19orf12, CCT5, CPT1C, CYP2U1, DDHD1, DDHD2, DNM2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAM134B, FARS2, FLRT1, FUS, GAD1, GBA2, GJC2, GRID2, HPDL, IBA57, IFIH1, KIDINS220, WASHC5 (SPG8), KIF1C, KLC2, KLC4, L1CAM, LYST, MAG, MARS2, NIPA1, NT5C2, PGAP1, PLP1*, PMCA4, PNPLA6, RAB3GAP2, REEP2, RNASEH2B, RTN2, SETX, SLC16A2, SLC33A1, SOD1, SOX10, SPATA5L1, SPG20, SPG21,TARDBP, TECPR2, TFG, TUBB4A, USP8, VAMP1, VCP, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27 | Hereditäre spastische Paraplegie (HSP), unbestimmt (gesamt): ABCD1, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, BICD2, BSCL2, MTRFR, C19orf12, CCT5, CPT1C, CYP2U1, DDHD1, DDHD2, DNM2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAM134B, FARS2, FLRT1, FUS, GAD1, GBA2, GJC2, GRID2, HPDL, IBA57, IFIH1, KIDINS220, WASHC5 (SPG8), KIF1C, KLC2, KLC4, L1CAM, LYST, MAG, MARS2, NIPA1, NT5C2, PGAP1, PLP1*, PMCA4, PNPLA6, RAB3GAP2, REEP2, RNASEH2B, RTN2, SETX, SLC16A2, SLC33A1, SOD1, SOX10, SPATA5L1, SPG20, SPG21,TARDBP, TECPR2, TFG, TUBB4A, USP8, VAMP1, VCP, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27 | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie (HSP), unbestimmt: ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST (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 | Hereditäre spastische Paraplegie (HSP), unbestimmt: ATL1 (SPG3A), CYP7B1 (SPG5A), SPG11, KIF1A, KIF5A, REEP1 (SPG31), SPAST (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 |
| Hirschsprung: L1CAM | Hirschsprung: L1CAM | Molecular Diagnostics / PCR |
| Hornhautdystrophien/Keratoconus: | Hornhautdystrophien/Keratoconus | Molecular Diagnostics / PCR |
| Hutchinson-Gilford-Progerie- Syndrom (HGPS) | Hutchinson-Gilford-Progerie- Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Molecular Diagnostics / PCR |
| Hydrozephalus mit Morbus | Hydrozephalus mit Morbus | Molecular Diagnostics / PCR |
| Hypercholesterinämie (primär): | Hypercholesterinämie (primär) | Molecular Diagnostics / PCR |
| Hypercholestrinämie (LDLR_Defizienz): LDLR | Hypercholestrinämie (LDLR_Defizienz): LDLR | Molecular Diagnostics / PCR |
| Hyperkalzämie (HHC): CASR, AP2S1, GNA11 | Hyperkalzämie (HHC): CASR, AP2S1, GNA11 | Molecular Diagnostics / PCR |
| Hypogonadismus (IHH): | Hypogonadismus (IHH) | Molecular Diagnostics / PCR |
| Hypogonadotroper | hypogonadotroper | Molecular Diagnostics / PCR |
| Hämorrhagische Teleangiektasie (HHT): ACVRL1, ENG, SMAD4, GDF2, RASA1 | Hämorrhagische Teleangiektasie (HHT): ACVRL1, ENG, SMAD4, GDF2, RASA1 | Molecular Diagnostics / PCR |
| Infantile und juvenile Leukodystrophien: | Infantile und juvenile Leukodystrophien | 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 | Kabuki-Syndrom: KMT2D, KDM6A, RAP1A, RAP1B | Molecular Diagnostics / PCR |
| Kallmann-Syndrom / Isolierter | Kallmann-Syndrom / Isolierter | Molecular Diagnostics / PCR |
| Kardiofaziokutanes Syndrom (CFC): | Kardiofaziokutanes Syndrom (CFC) | Molecular Diagnostics / PCR |
| Kardiomyopathie / Dysplasie (ARVC/D): DSC2, DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, CASQ2, RYR2 | Kardiomyopathie / Dysplasie (ARVC/D): DSC2, DSG2, DSP, JUP, PKP2, TGFB3, TMEM43, CASQ2, RYR2 | Molecular Diagnostics / PCR |
| Kardiomyopathie, dilatativ (DCM): | Kardiomyopathie, dilatativ (DCM) | Molecular Diagnostics / PCR |
| Kardiomyopathie, hypertroph (HCM): ACADVL , ACTC1, CSRP3, FHL1, MYBPC3, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, ACTN2, ANKRD1, CACNA1C, CALR3, CASQ2, CAV3, CBL, COX15 CRYAB, DES, FHL2, FXN, GLA, GAA, JPH2, KLF10, LDB3, MAP2K1, MAP2K2, MYH6, MYLK2, MYO6, MYOZ2, NEXN, PDLIM3, RAF1, RYR2, SLC25A4, TCAP, TTR, VCL | Kardiomyopathie, hypertroph (HCM): ACADVL , ACTC1, CSRP3, FHL1, MYBPC3, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, ACTN2, ANKRD1, CACNA1C, CALR3, CASQ2, CAV3, CBL, COX15 CRYAB, DES, FHL2, FXN, GLA, GAA, JPH2, KLF10, LDB3, MAP2K1, MAP2K2, MYH6, MYLK2, MYO6, MYOZ2, NEXN, PDLIM3, RAF1, RYR2, SLC25A4, TCAP, TTR, VCL | Molecular Diagnostics / PCR |
| Katarakt: ABCB6, ABHD12, ADAMTSL4, AGK, BFSP1, BFSP2, CHMP4B, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP51A1, CYP27A1, DNMBP, EPG5, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FAM126A, FOXC1, FOXE3, FTL, 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 | Katarakt: ABCB6, ABHD12, ADAMTSL4, AGK, BFSP1, BFSP2, CHMP4B, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP51A1, CYP27A1, DNMBP, EPG5, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FAM126A, FOXC1, FOXE3, FTL, 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 |
| Kaveggia-Syndrom (OKS): MED12 | Opitz-Kaveggia-Syndrom (OKS) | Molecular Diagnostics / PCR |
| Keppen-Lubinsky-Syndrom (KLS): | Keppen-Lubinsky-Syndrom (KLS) | Molecular Diagnostics / PCR |
| Kleinwuchs (z.B. Achondroplasie, Rubinstein-Taybi-Syndrom, kampomele Dysplasie): ACAN, CREBBP, CUL7, EP300, FGFR3, PTHR1, RMRP, RNU4ATAC, SHOX, SLC26A2, SMARCAL1, SOX9, TRIP11 | Kleinwuchs (z.B. Achondroplasie, Rubinstein-Taybi-Syndrom, kampomele Dysplasie): ACAN, CREBBP, CUL7, EP300, FGFR3, PTHR1, RMRP, RNU4ATAC, SHOX, SLC26A2, SMARCAL1, SOX9, TRIP11 | 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 |
| Knochenmineraldichte (z.B. Dysosteosklerose, Osteopoikilose, Raine- Syndrom, Sklerosteose): AMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, LEMD3, LRP5, LRRK1, OSTM1, PLEKHM1, SNX10, SOST, TCIRG1, TGFB1, TNFSF11, TNFRSF11A | Knochenmineraldichte (z.B. Dysosteosklerose, Osteopoikilose, Raine- Syndrom, Sklerosteose): AMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, LEMD3, LRP5, LRRK1, OSTM1, PLEKHM1, SNX10, SOST, TCIRG1, TGFB1, TNFSF11, TNFRSF11A | Molecular Diagnostics / PCR |
| Kongenitale stationäre Nachtblindheit: | Kongenitale stationäre Nachtblindheit | Molecular Diagnostics / PCR |
| Kongenitales Glaukom / Axenfeld-Rieger- Syndrom: ASB10, COL4A1, CYP1B1, DDX58, FOXC1, FOXE3, GPATCH3, LMX1B, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, SBF2, SH3PXD2B, TBK1, TEK, WDR36 | Kongenitales Glaukom / Axenfeld-Rieger- Syndrom: ASB10, COL4A1, CYP1B1, DDX58, FOXC1, FOXE3, GPATCH3, LMX1B, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, SBF2, SH3PXD2B, TBK1, TEK, WDR36 | Molecular Diagnostics / PCR |
| Kosaki-Syndrom: PDGFRB | Kosaki-Syndrom: PDGFRB | Molecular Diagnostics / PCR |
| Kraniosynostose (z.B. Apert-Syndrom, Muenke-Syndrom, Pfeiffer-Syndrom, Seathre-Chotzen-Syndrom): ERF, FGFR1, FGFR2, FGFR3, IL11RA, P4HB, RECQL4, SEC24D, SKI, TCF12, TWIST1 | Kraniosynostose (z.B. Apert-Syndrom, Muenke-Syndrom, Pfeiffer-Syndrom, Seathre-Chotzen-Syndrom): ERF, FGFR1, FGFR2, FGFR3, IL11RA, P4HB, RECQL4, SEC24D, SKI, TCF12, TWIST1 | 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 |
| Leber’sche kongenitale Amaurose: | Leber’sche kongenitale Amaurose | Molecular Diagnostics / PCR |
| Legius Syndrom | Legius-Syndrom: SPRED1 | Molecular Diagnostics / PCR |
| Lenz-Majewski-Syndrom (LMS): | Lenz-Majewski-Syndrom (LMS) | Molecular Diagnostics / PCR |
| Leopard-Syndrom (LPRD): BRAF, PTPN11,RAF1 | Leopard-Syndrom (LPRD): BRAF, PTPN11,RAF1 | Molecular Diagnostics / PCR |
| Leukodystrophien und 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 | Leukodystrophien und 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 | 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 |
| Lujan-Fryns-Syndrom (LFS), Opitz- Kaveggia-Syndrom (OKS): MED12 | Lujan-Fryns-Syndrom (LFS), Opitz- Kaveggia-Syndrom (OKS): MED12 | Molecular Diagnostics / PCR |
| Luscan-Lumish-Syndrom (LLS): | Luscan-Lumish-Syndrom (LLS) | 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 |
| Magenkarzinom | Magenkarzinom: CDH1, ATM, BMPR1A, CHEK2, MLH1, MSH2, MSH6, PMS2, STK11, TP53, CTNNA1, EPCAM, PDGFRA | Molecular Diagnostics / PCR |
| Makrosomie | Makrozephalie mit Makrosomie | Molecular Diagnostics / PCR |
| Makrozephalie (Basisdiagnostik): | Makrozephalie (Basisdiagnostik) | Molecular Diagnostics / PCR |
| Makrozephalie- Gesamt-Diagnostik: | Makrozephalie-Gesamtdiagnostik | Molecular Diagnostics / PCR |
| Makuladystrophien / Morbus Stargardt: | Makuladystrophien / Morbus Stargardt | Molecular Diagnostics / PCR |
| Malignes Melanom | Malignes Melanom: CDKN2A, BAP1, BRCA2, POT1 | Molecular Diagnostics / PCR |
| Mandibuloakrale Dysplasie (MAD): | Mandibuloakrale Dysplasie (MAD) | Molecular Diagnostics / PCR |
| Marfan Syndrom | Marfan-Syndrom: FBN1, TGFBR1, TGFBR2, ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFB2 | Molecular Diagnostics / PCR |
| Marfan-Lipodystrophie-Syndrom (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 | Marfan-Lipodystrophie-Syndrom (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 |
| 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 |
| Megalenzephalie-Kapillar- Malformation-Polymikrogyrie- Syndrom (MCAP): PIC3CA | Megalenzephalie-Kapillar- Malformation-Polymikrogyrie- Syndrom (MCAP): PIC3CA | Molecular Diagnostics / PCR |
| Megalenzephalie-Polymikrogyrie- Polydaktylie-Hydrozephalus- Syndrom (MPPH1-3): PIK3R2, AKT3, CCND2 | Megalenzephalie-Polymikrogyrie- Polydaktylie-Hydrozephalus- Syndrom (MPPH1-3): PIK3R2, AKT3, CCND2 | Molecular Diagnostics / PCR |
| Meier-Gorlin-Syndrom (MGS): | Meier-Gorlin-Syndrom (MGS) | Molecular Diagnostics / PCR |
| Mental retardation, autosomal | Mental retardation, autosomal | Molecular Diagnostics / PCR |
| Mentale Retardierung- Makrozephalie, Suszeptibilität für Autismus (AUTS18): CHD8 | Mentale Retardierung- Makrozephalie, Suszeptibilität für Autismus (AUTS18): CHD8 | Molecular Diagnostics / PCR |
| Mentale Retardierung- Makrozephalie, X-chromosomal (Cabezas; MRX93; MRX72; Turner type): CUL4B, BRWD3, RAB39B, HUWE1 | Mentale Retardierung- Makrozephalie, X-chromosomal (Cabezas; MRX93; MRX72; Turner type): CUL4B, BRWD3, RAB39B, HUWE1 | Molecular Diagnostics / PCR |
| Mentale Retardierung- Makrozephalie, autosomal rezessiv (MRT41): KPTN | Mentale Retardierung- Makrozephalie, autosomal rezessiv (MRT41): KPTN | 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 |
| Mikrophthalmie-Anophthalmie-Kolobom- Komplex: ABCB6, ACTB, ACTG1, ATOH7, C12ORF57, CRYBA4, CYP1B1, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM2, FZD4, GDF3, GDF6, GJA1, GRIP1, HESX1, HMX1, MFRP, NDUFB11, OCRL, OTX2, PAX2, PAX6, PIGL, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAX, RBP4, SIX3, SIX6, SOX2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, TMEM98, VPS13B, VSX2, ZIC2 | Mikrophthalmie-Anophthalmie-Kolobom- Komplex: ABCB6, ACTB, ACTG1, ATOH7, C12ORF57, CRYBA4, CYP1B1, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM2, FZD4, GDF3, GDF6, GJA1, GRIP1, HESX1, HMX1, MFRP, NDUFB11, OCRL, OTX2, PAX2, PAX6, PIGL, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAX, RBP4, SIX3, SIX6, SOX2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, TMEM98, VPS13B, VSX2, ZIC2 | Molecular Diagnostics / PCR |
| Molybdän-Cofaktor Defizienz (MOCS1, MOCS2) | Molybdän-Cofaktor Defizienz (MOCS1, MOCS2) | Molecular Diagnostics / PCR |
| Morbus Fabry | Morbus Fabry: GLA | Molecular Diagnostics / PCR |
| Morbus Osler / Hereditäre | Morbus Osler / Hereditäre | Molecular Diagnostics / PCR |
| Morbus Wilson | Morbus-Wilson: ATP7B | Molecular Diagnostics / PCR |
| Multiple epiphysäre Dysplasie / | Multiple epiphysäre Dysplasie | Molecular Diagnostics / PCR |
| Neigung zu Druckparesen (HNPP): | Neigung zu Druckparesen (HNPP) | Molecular Diagnostics / PCR |
| Neoplasien | Neoplasien: CDC73, CDKN1B , DLST, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | Molecular Diagnostics / PCR |
| Nestor-Guillermo-Progerie-Syndrom EDTA-Blut, DNA; DNA (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 | Nestor-Guillermo-Progerie-Syndrom EDTA-Blut, DNA; DNA (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 |
| Neuroakanthozytose: PANK2, VPS13A, XK | Neuroakanthozytose: PANK2, VPS13A, XK | Molecular Diagnostics / PCR |
| Neurodegeneration mit Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Neurodegeneration mit Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Molecular Diagnostics / PCR |
| Neurofibromatose: NF1, NF2, SPRED1 | Neurofibromatose: NF1, NF2, SPRED1 | Molecular Diagnostics / PCR |
| Neuronale Ceroid-Lipofuszinose | Neuronale Ceroidlipofuszinose | Molecular Diagnostics / PCR |
| Neuropathien/Charcot-Marie-Tooth- Neuropathien (HMSN/CMT), Distale | Neuropathien/Charcot-Marie-Tooth- Neuropathien (HMSN/CMT), Distale | Molecular Diagnostics / PCR |
| Nicolaides-Baraitser-Syndrom (NCBRS): SMARCA2 | Nicolaides-Baraitser-Syndrom (NCBRS): SMARCA2 | Molecular Diagnostics / PCR |
| Nierenzellkarzinom: BAP1, DICER1, EPCAM, FH, FLCN, MET, PALB2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TSC1, TSC2, VHL | Nierenzellkarzinom: BAP1, DICER1, EPCAM, FH, FLCN, MET, PALB2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TSC1, TSC2, VHL | Molecular Diagnostics / PCR |
| Nijmegen-Breakage-Syndrom (NBS): | Nijmegen-Breakage-Syndrom (NBS) | Molecular Diagnostics / PCR |
| Non-compaction Kardiomyopathie (NCCM): ACTC1, HCN4, MIB1, MYBPC3, MYH7, NEXN, PRDM16, TAZ, TPM1 | Non-compaction Kardiomyopathie (NCCM): ACTC1, HCN4, MIB1, MYBPC3, MYH7, NEXN, PRDM16, TAZ, TPM1 | Molecular Diagnostics / PCR |
| Okulodentodigitale Dysplasie (ODDD): GJA1 | Okulodentodigitale Dysplasie (ODDD): GJA1 | Molecular Diagnostics / PCR |
| Optikusatrophie und Leber´sche | Optikusatrophie und Leber´sche | Molecular Diagnostics / PCR |
| Osteogenesis Imperfecta (OI) / frühmanifeste Frakturneigung (z.B. Hypophosphatasie, Osteoporose- Pseudogliom): ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, GORAB, IFITM5, KDELR2, LRP5, MESD, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A , TMEM38B, WNT1 | Osteogenesis Imperfecta (OI) / frühmanifeste Frakturneigung (z.B. Hypophosphatasie, Osteoporose- Pseudogliom): ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, GORAB, IFITM5, KDELR2, LRP5, MESD, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A , TMEM38B, WNT1 | 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 |
| 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 |
| Paraplegie (HSP): ALS2, SETX, SPG11, SOD1, TARDBP | Paraplegie (HSP): ALS2, SETX, SPG11, SOD1, TARDBP | Molecular Diagnostics / PCR |
| Parkinson-Erkrankung, autosomal- dominant: CHCHD2, GBA, LRRK2, TMEM230, SNCA, VPS35 | Parkinson-Erkrankung, autosomal- dominant: CHCHD2, GBA, LRRK2, TMEM230, SNCA, VPS35 | Molecular Diagnostics / PCR |
| Parkinson-Erkrankung, autosomal- rezessiv: ATP13A2, DNAJC6, FBXO7, PARK7, PLA2G6, PINK1, PRKN, SLC30A10, SLC6A3, SYNJ1, VPS13C | Parkinson-Erkrankung, autosomal- rezessiv: ATP13A2, DNAJC6, FBXO7, PARK7, PLA2G6, PINK1, PRKN, SLC30A10, SLC6A3, SYNJ1, VPS13C | Molecular Diagnostics / PCR |
| Phäochromozytome und Paragangliome / Multiple endokrine | Phäochromozytome und Paragangliome / Multiple endokrine | 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 (MCPH): | Primäre Mikrozephalie (MCPH) | Molecular Diagnostics / PCR |
| Prostatakarzinom | Prostatakarzinom: BRCA1, BRCA2, CHEK2, MSR1, RNASEL, HOXB13, PALB2, RAD51D | Molecular Diagnostics / PCR |
| Proteus-Syndrom | Proteus-Syndrom: AKT1 | 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 |
| Rasopathien/Noonan-Syndrom: | Rasopathien/Noonan-Syndrom | Molecular Diagnostics / PCR |
| Retinitis pigmentosa, autosomal- dominant und X-gekoppelt | Retinitis pigmentosa, autosomal- 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 |
| Retinitis pigmentosa, autosomal-rezessiv und x-gekoppelt: ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AIPL1, ARHGEF18, ARL2BP, ARL6, BBS2, C8ORF37, CDHR1, CEP290, CERKL, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CWC27, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, GNAT1, GNPTG, GUCY2D, HGSNAT, IDH3B, IFT43, IFT140, IFT172, IMPG2, KIAA1549, KIF11, KIZ, LRAT, MAK, MERTK, MFRP, NEK2, NEUROD1, NR2E3, NRL, OFD1, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF31, RBP3, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, SAG, SAMD11, SLC7A14, SPATA7, TRNT1, TTC8, TUB, TULP1, USH2A, WDR19, ZNF408, ZNF513 | Retinitis pigmentosa, autosomal-rezessiv und x-gekoppelt: ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AIPL1, ARHGEF18, ARL2BP, ARL6, BBS2, C8ORF37, CDHR1, CEP290, CERKL, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CWC27, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, GNAT1, GNPTG, GUCY2D, HGSNAT, IDH3B, IFT43, IFT140, IFT172, IMPG2, KIAA1549, KIF11, KIZ, LRAT, MAK, MERTK, MFRP, NEK2, NEUROD1, NR2E3, NRL, OFD1, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF31, RBP3, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, SAG, SAMD11, SLC7A14, SPATA7, TRNT1, TTC8, TUB, TULP1, USH2A, WDR19, ZNF408, ZNF513 | Molecular Diagnostics / PCR |
| Retinoblastom | Retinoblastom: RB1 | Molecular Diagnostics / PCR |
| Ritschner-Schintzel-Syndrom (RTSC): WASHC5/KIAA0196, CCDC22 | Ritschner-Schintzel-Syndrom (RTSC): WASHC5/KIAA0196, CCDC22 | Molecular Diagnostics / PCR |
| Robinow-Syndrom: WNT5A, DVL1, DVL3, ROR2, FGD1 | Robinow-Syndrom: WNT5A, DVL1, DVL3, ROR2, FGD1 | Molecular Diagnostics / PCR |
| Rothmund-Thomson-Syndrom (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 | Rothmund-Thomson-Syndrom (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 |
| Rubinstein-Taybi-Syndrom (RSTS): | Rubinstein-Taybi-Syndrom (RSTS) | 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 |
| SRCAP | SRCAP | Molecular Diagnostics / PCR |
| STRADA | STRADA | Molecular Diagnostics / PCR |
| Schilddrüsenkarzinom | Schilddrüsenkarzinom: PTEN, RET, SDHB, SDHC, SDHD, APC, ATM, CHEK2, MEN1, MUTYH, SDHAF2, STK11 | Molecular Diagnostics / PCR |
| Schuurs-Hoeijmakers-Syndrom (SHMS): PACS1 | Schuurs-Hoeijmakers-Syndrom (SHMS): PACS1 | 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 | Senior-Loken-Syndrom: CEP164, CEP290, INVS, IFT81, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TMEM67, TRAF3IP1, WDR19, ZNF423 | Molecular Diagnostics / PCR |
| Septo-optische Dysplasie: FGFR1, HESX1, OTX2, PROKR2, SOX2, SOX3 | Septo-optische Dysplasie: FGFR1, HESX1, OTX2, PROKR2, SOX2, SOX3 | 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 (SGBS): GPC3, GPC4, OFD1 | Simpson-Golabi-Behmel-Syndrom (SGBS): GPC3, OFD1 | Molecular Diagnostics / PCR |
| Smith-Kingsmore-Syndrom (SKS): | Smith-Kingsmore-Syndrom (SKS) | Molecular Diagnostics / PCR |
| Sotos Syndrom | Sotos-Syndrom: NSD1, NFIX, EZH2, EED, SUZ12, HACE1 | 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 |
| Störungen des Kalzium- und Phosphatstoffwechsels (z.B. hypophosphatämische Rachitis, Pseudohypoparathyreoidismus): CASR, CLCN5, DMP1, ENPP1, FGF23, GALNT3, GNAS, KL, PHEX, SAMD9, SLC9A3R1, SLC34A1, SLC34A3, STX16 | Störungen des Kalzium- und Phosphatstoffwechsels (z.B. hypophosphatämische Rachitis, Pseudohypoparathyreoidismus): CASR, CLCN5, DMP1, ENPP1, FGF23, GALNT3, GNAS, KL, PHEX, SAMD9, SLC9A3R1, SLC34A1, SLC34A3, STX16 | 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 (HPS), Serratiertes | Syndrom (HPS), Serratiertes | Molecular Diagnostics / PCR |
| Tatton-Brown-Rahman-Syndrom (TBRS): DNMT3A | Tatton-Brown-Rahman-Syndrom (TBRS): DNMT3A | Molecular Diagnostics / PCR |
| Tenorio-Syndrom (TNORS): RNF125 | Tenorio-Syndrom (TNORS): RNF125 | Molecular Diagnostics / PCR |
| Townes-Brocks-Syndrom (TBS) | Townes-Brocks-Syndrom (TBS) | Molecular Diagnostics / PCR |
| Trichorhinophalangeales Syndrom 1 und 3 (TRPS1 und TRPS3): TRPS1 | Trichorhinophalangeales Syndrom 1 und 3 (TRPS1 und TRPS3): TRPS1 | Molecular Diagnostics / PCR |
| Usher-Syndrom | 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 |
| Vitreoretinopathien (Familiäre Exsudative Vitreoretinopathie): ATOH7, BEST1, CAPN5, COL18A1, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, TSPAN12, VCAN, ZNF408 | Vitreoretinopathien (Familiäre Exsudative Vitreoretinopathie): ATOH7, BEST1, CAPN5, COL18A1, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, TSPAN12, VCAN, ZNF408 | Molecular Diagnostics / PCR |
| Vorderkammerdysgenesien / Axenfeld- Rieger-Syndrom: ASPH, B3GLCT, COL4A1, COL4A2, CYP1B1, EYA1, FOXC1, FOXE3, GPATCH3, HMX1, LTBP2, MYOC, PAX6, PITX2, PXDN, SLC38A8 | Vorderkammerdysgenesien / Axenfeld- Rieger-Syndrom: ASPH, B3GLCT, COL4A1, COL4A2, CYP1B1, EYA1, FOXC1, FOXE3, GPATCH3, HMX1, LTBP2, MYOC, PAX6, PITX2, PXDN, SLC38A8 | Molecular Diagnostics / PCR |
| Weaver Syndrom | 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 |
| Whole Genome Sequencing (WGS); SNV, CNV, SV | Whole Genome Sequencing (WGS); SNV, CNV, SV | Molecular Diagnostics / PCR |
| Wiedemann-Rautenstrauch- 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 | Wiedemann-Rautenstrauch- 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 |
| Xeroderma pigmentosum (XP): | Xeroderma pigmentosum (XP) | 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 |
| Zerebro-Okulo-Fazio-Skeletales- 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 | Zerebro-Okulo-Fazio-Skeletales- 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 |
| dominant (MRD32): KAT6A | dominant (MRD32): KAT6A | Molecular Diagnostics / PCR |
| extraskelettaler Symptomatik (z.B. kranioektodermale Dysplasien, Carpenter-Syndrom): CD96, EVC, EVC2, IFT22, IFT43, LRP2, MEGF8, POR, RAB23, RECQL4, WDR35, ZIC1 | extraskelettaler Symptomatik (z.B. kranioektodermale Dysplasien, Carpenter-Syndrom): CD96, EVC, EVC2, IFT22, IFT43, LRP2, MEGF8, POR, RAB23, RECQL4, WDR35, ZIC1 | Molecular Diagnostics / PCR |
| frontonasale Dysplasie, parietale | frontonasale Dysplasie, parietale | 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 |
| polyposes Kolorektalkarzinom: | Lynch-Syndrom / Hereditäres Nicht-polyposes Kolorektalkarzinom: MLH1, MSH2, MSH6, PMS2, EPCAM | Molecular Diagnostics / PCR |
| young (MODY): ABCC8, APPL1, BLK, 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 |
| (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 |
| Atypische Parkinson-Erkrankung: | Atypische Parkinson-Erkrankung: | Other |
| Autonome Neuropathien (HSAN): | Autonome Neuropathien (HSAN): | 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 |
| Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, | Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, | 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 |
| Familiäre Skeletterkrankungen (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, | Familiäre Skeletterkrankungen (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 |
| Hereditäre Neuropathie mit | Hereditäre Neuropathie mit | Other |
| Leukoenzephalopathie mit | Leukoenzephalopathie mit | Other |
| MACS-Syndrom / RIN2-Syndrom: | MACS-Syndrom / RIN2-Syndrom: | Other |
| Myopie und Differentialdiagnosen: | Myopie und Differentialdiagnosen: | Other |
| Parkinson-Erkrankung, unbestimmt: | Parkinson-Erkrankung, unbestimmt: | Other |
| Perlman-Syndrom (PRLNMS): | Perlman-Syndrom (PRLNMS): | Other |
| Phelan-McDermid Syndrom | Phelan-McDermid-Syndrom: | Other |
| Progerie Typ Penttinen (PTP): | Progerie Typ Penttinen (PTP): | Other |
| Syndrom | Syndrom) | Other |
| Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: | Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: | Other |
| hereditäre Optikusneuropathie (LHON): | hereditäre Optikusneuropathie (LHON): | Other |
| subkortikalen Zysten (MLC): | subkortikalen Zysten (MLC): | Other |
| ventrikuläre Tachykardie (CPVT) | ventrikuläre Tachykardie (CPVT): | Other |
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