Universitätsmedizin Göttingen Institut für Humangenetik

363 capabilities Accredited since April 2025 Verified Apr 2026 One of 3,039 in Germany

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Heinrich-Düker-Weg 12
Göttingen 37073 , Germany

Accreditation

Active DAkkS D-ML-13161-02-00
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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-13161-02-00

Status

Active

Since

25 April 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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363 capabilities

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Test Capabilities (363)

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
(CMD): ANKH, GJA1 (CMD): ANKH, GJA1 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
(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
(FANCB), FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PCNT, PALB2, PCNA, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, ZNF335 DMD, LMNA, MYBPC3, MYH7, TNNT2, TPM1, ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CASQ2, CRYAB, CSRP3, CFT1, DES, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, ILK, LAMA2, LAMA4, LAMP2, LDB3, MURC, MYH6, MYL2, MYL3, MYPN, NEXN, NPPA, PDLIM3, PLN, PRDM16, Molecular Diagnostics / PCR
(FH): APOB, LDLR, LDLRAP1, PCSK9 Nierenzellkarzinom (FH) 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, 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
(HNPP) Neigung zu Druckparesen (HNPP): 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
(NBIA): ID264 Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 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
(RCM): ID105 Kardiomyopathie, restriktiv (RCM): 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, GPC4, OFD1 (SGBS): GPC3, OFD1 Molecular Diagnostics / PCR
(SHMS): PACS1 (SHMS): PACS1 Molecular Diagnostics / PCR
(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, 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
(dHMN), Hereditäre Sensible und (dHMN), Hereditäre Sensible und 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 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
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
Atypische Parkinson-Erkrankung: Atypische Parkinson-Erkrankung: Molecular Diagnostics / PCR
Autismus (AUTS18): CHD8 Autismus (AUTS18): CHD8 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
Autonome Neuropathien (HSAN): Autonome Neuropathien (HSAN): 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
Beuren-Syndrom (WBS): ELN Beuren-Syndrom (WBS): ELN Molecular Diagnostics / PCR
Bewegungsstörungen: ID272 Choreatiforme Bewegungsstörungen Molecular Diagnostics / PCR
Bindegewebserkrankung mit Bindegewebserkrankung mit Molecular Diagnostics / PCR
Bindegewebserkrankungen mit Bindegewebserkrankungen mit 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 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
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 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
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
Compaction-Kardiomyopathie Non-compaction Kardiomyopathie 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 assoziierte Syndrome Cutis laxa assoziierte Syndrome 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
Differentialdiagnosen: SCN1A Myopie und Differentialdiagnosen: 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 Parkinson-Dystonie: ATP1A3, DNAJC12, GCH1*, PLA2G6, PRKRA, SLC30A10, SPR, SLC39A14, SLC6A3, TAF1, TH Molecular Diagnostics / PCR
Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, Dystonie (Basis): ATP1A3, GCH1, GNAL, ECHS1, KMT2B, PNKD, PARK2, 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
Episodische Ataxie Episodische Ataxie: CACNA1A, CACNB4, KCNA1,SCN2A, SLC1A3 Molecular Diagnostics / PCR
Erbliche Schwerhörigkeit (DFN): Erbliche Schwerhörigkeit (DFN): Molecular Diagnostics / PCR
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, 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 Familiärer Brust- und Molecular Diagnostics / PCR
Familiärer Hyperinsulinismus / Familiärer Hyperinsulinismus / 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: 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 Neuropathie mit Hereditäre Neuropathie mit 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
Hornhautdystrophien/Keratoconus: Hornhautdystrophien/Keratoconus: Molecular Diagnostics / PCR
Hydrozephalus mit Morbus Hydrozephalus mit Morbus Molecular Diagnostics / PCR
Hypercholesterinämie (primär): Hypercholesterinämie (primär): 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
Hypogonadismus (IHH): Hypogonadismus (IHH): Molecular Diagnostics / PCR
Hypogonadotroper hypogonadotroper Molecular Diagnostics / PCR
Hämorrhagische Teleangiektasie Hämorrhagische Teleangiektasie 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 Kardiomyopathie / Dysplasie Molecular Diagnostics / PCR
Kardiomyopathie, dilatativ (DCM): Kardiomyopathie, dilatativ (DCM): Molecular Diagnostics / PCR
Kardiomyopathie, hypertroph Kardiomyopathie, hypertroph Molecular Diagnostics / PCR
Katarakt 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, 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, 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
Kongenitale stationäre Nachtblindheit: Kongenitale stationäre Nachtblindheit: 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
Legius Syndrom SPRED1; V. a. Legius-Syndrom 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
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
Leukodystrophien und Leukodystrophien und Molecular Diagnostics / PCR
Leukoenzephalopathie mit Leukoenzephalopathie mit 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
Luscan-Lumish-Syndrom (LLS): Luscan-Lumish-Syndrom (LLS): Molecular Diagnostics / PCR
Lymphatische Neoplasien Lymphatische Neoplasien: Molecular Diagnostics / PCR
MACS-Syndrom / RIN2-Syndrom: MACS-Syndrom / RIN2-Syndrom: Molecular Diagnostics / PCR
MED12 MED12 Molecular Diagnostics / PCR
MLH1, MSH2, MSH6, PMS2, EPCAM MLH1, MSH2, MSH6, PMS2, EPCAM Molecular Diagnostics / PCR
Makrosomie Makrozephalie mit Makrosomie Molecular Diagnostics / PCR
Makrozephalie (Basisdiagnostik): Makrozephalie (Basisdiagnostik): 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
Makrozephalie- Gesamt-Diagnostik: Makrozephalie- Gesamt-Diagnostik: 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 Marfan-Lipodystrophie-Syndrom 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
Meier-Gorlin-Syndrom (MGS): Meier-Gorlin-Syndrom (MGS): 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
Multiple epiphysäre Dysplasie / Multiple epiphysäre Dysplasie / 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
Neurodegeneration mit Neurodegeneration mit Molecular Diagnostics / PCR
Neuronale Ceroid-Lipofuszinose Neuronale Ceroidlipofuszinose: 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
Nijmegen-Breakage-Syndrom (NBS): Nijmegen-Breakage-Syndrom (NBS): 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
Optikusneuropathie (LHON) hereditäre Optikusneuropathie (LHON): Molecular Diagnostics / PCR
Osteogenesis Imperfecta (OI) / Osteogenesis Imperfecta (OI) / 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
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-Erkrankung, unbestimmt: Parkinson-Erkrankung, unbestimmt: Molecular Diagnostics / PCR
Perlman-Syndrom (PRLNMS): Perlman-Syndrom (PRLNMS): Molecular Diagnostics / PCR
Phelan-McDermid Syndrom Phelan-McDermid-Syndrom: Molecular Diagnostics / PCR
Phäochromozytome und Phäochromozytome und 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
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
Progerie Typ Penttinen (PTP): Progerie Typ Penttinen (PTP): 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-rezessiv Retinitis pigmentosa, autosomal-rezessiv Molecular Diagnostics / PCR
Retinoblastom 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
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
SNV, CNV, SV SNV, CNV, SV Molecular Diagnostics / PCR
Schilddrüsenkarzinom 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 Senior-Loken-Syndrom: CEP164, CEP290, INVS, IFT81, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TMEM67, TRAF3IP1, WDR19, ZNF423 Molecular Diagnostics / PCR
Septo-optische 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
Smith-Kingsmore-Syndrom (SKS): Smith-Kingsmore-Syndrom (SKS): 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) 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) 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
Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: Syndrom, Cowden syndrome 1, Macrozephalie/Autismus-Syndrom: 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
Townes-Brocks-Syndrom (TBS) Townes-Brocks-Syndrom (TBS): Molecular Diagnostics / PCR
Trichorhinophalangeales Syndrom Trichorhinophalangeales Syndrom 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
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
Xeroderma pigmentosum (XP): Xeroderma pigmentosum (XP): Molecular Diagnostics / PCR
autosomal-dominant autosomal-dominant Molecular Diagnostics / PCR
dominant (MRD32): KAT6A dominant (MRD32): KAT6A Molecular Diagnostics / PCR
dominant und X-gekoppelt 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
frontonasale Dysplasie, parietale frontonasale Dysplasie, parietale Molecular Diagnostics / PCR
polyposes Kolorektalkarzinom: polyposes Kolorektalkarzinom: Molecular Diagnostics / PCR
subkortikalen Zysten (MLC): subkortikalen Zysten (MLC): 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
ventrikuläre Tachykardie (CPVT) ventrikuläre Tachykardie (CPVT): 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
(ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, (ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, Other
(CLS) (CLS) Other
(Cabezas; MRX93; MRX72; Turner (Cabezas; MRX93; MRX72; Turner 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
Birt-Hogg-Dubé Syndrom (BAP1, CDC73, CDKN1B, CHEK2, COL3A1, CYLD, EPCAM, FBN1, FH, FLCN, IDH2, MAX, MEN1, MET, MLH1, MSH2, MSH6, PMS2, PRKAR1A, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL ); SNV, CNV TL1, MT-TS2, MTPAP, MTRFR, MTTP, MVK, MYO7A, NAALADL1, NBAS, NDP, NDUFS2, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUS1, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B) Other
Chondrodysplasien (z.B. kleidokraniale Chondrodysplasien (z.B. kleidokraniale 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
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
Dysostosen der Extremitäten (z.B. Dysostosen der Extremitäten (z.B. Other
Dysplasie): ACAN, CREBBP, CUL7, EP300, FGFR3, PTHR1, RMRP, RNU4ATAC, SHOX, SLC26A2, SMARCAL1, SOX9, TRIP11 Dysplasie): ACAN, CREBBP, CUL7, EP300, FGFR3, PTHR1, RMRP, RNU4ATAC, SHOX, SLC26A2, SMARCAL1, SOX9, TRIP11 Other
Dysplasie, Pachydermoperiostosis): Dysplasie, Pachydermoperiostosis): Other
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 Neonatale Adrenoleukodystrophie): Other
Ehlers-Danlos-Syndrom (vaskuläre Ehlers-Danlos-Syndrom (vaskuläre Other
Exsudative Vitreoretinopathie): ATOH7, BEST1, CAPN5, COL18A1, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, TSPAN12, VCAN, ZNF408 Exsudative Vitreoretinopathie): ATOH7, BEST1, CAPN5, COL18A1, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, TSPAN12, VCAN, ZNF408 Other
Foramina, Treacher-Collins-Syndrom): Foramina, Treacher-Collins-Syndrom): Other
Form): COL3A1, ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 Form): COL3A1, ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 Other
Früharthrose (z.B. pseudorheumatoide Früharthrose (z.B. pseudorheumatoide Other
Knochenmineraldichte (z.B. Knochenmineraldichte (z.B. Other
Komplex Komplex Other
Kraniofaziale Dysostosen (z.B. Kraniofaziale Dysostosen (z.B. Other
Leber’sche kongenitale Amaurose: Leber’sche kongenitale Amaurose: Other
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 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 Other
MTOR MTOR Other
PTEN PTEN Other
Phosphatstoffwechsels (z.B. Phosphatstoffwechsels (z.B. Other
Polyposis-Syndrome (Familiäre Polyposis-Syndrome (Familiäre Other
Pseudogliom): ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, GORAB, IFITM5, KDELR2, LRP5, MESD, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A , TMEM38B, WNT1 Pseudogliom): ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, GORAB, IFITM5, KDELR2, LRP5, MESD, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A , TMEM38B, WNT1 Other
SRCAP SRCAP Other
STRADA STRADA Other
Spektrum (Refsum / Zellweger / Spektrum (Refsum / Zellweger / Other
Syndrom (HMPS)): APC, MUTYH, PIK3CA, PTEN, STK11, RNF43, GREM1 Syndrom (HMPS)): APC, MUTYH, PIK3CA, PTEN, STK11, RNF43, GREM1 Other
Syndrom) Syndrom) Other
Syndrom, Okihiro-Syndrom, Polydaktylie): ESCO, GLI3, LRP4, SALL1, SALL4, TBX3, TBX5, WNT3, ZRS-Region Syndrom, Okihiro-Syndrom, Polydaktylie): ESCO, GLI3, LRP4, SALL1, SALL4, TBX3, TBX5, WNT3, ZRS-Region Other
Vitreoretinopathien (Familiäre Vitreoretinopathien (Familiäre Other
extraskelettaler Symptomatik (z.B. extraskelettaler Symptomatik (z.B. Other
frühmanifeste Frakturneigung (z.B. frühmanifeste Frakturneigung (z.B. Other
hypophosphatämische Rachitis, Pseudohypoparathyreoidismus): CASR, CLCN5, DMP1, ENPP1, FGF23, GALNT3, GNAS, KL, PHEX, SAMD9, SLC9A3R1, SLC34A1, SLC34A3, STX16 hypophosphatämische Rachitis, Pseudohypoparathyreoidismus): CASR, CLCN5, DMP1, ENPP1, FGF23, GALNT3, GNAS, KL, PHEX, SAMD9, SLC9A3R1, SLC34A1, SLC34A3, STX16 Other
kranioektodermale Dysplasien, Carpenter-Syndrom): CD96, EVC, EVC2, IFT22, IFT43, LRP2, MEGF8, POR, RAB23, RECQL4, WDR35, ZIC1 kranioektodermale Dysplasien, Carpenter-Syndrom): CD96, EVC, EVC2, IFT22, IFT43, LRP2, MEGF8, POR, RAB23, RECQL4, WDR35, ZIC1 Other
osteodysplastischer primordialer, Typ I und Typ 2 (MOPD1 und osteodysplastischer primordialer, Typ I und Typ 2 (MOPD1 und Other
type): CUL4B, BRWD3, RAB39B, HUWE1 type): CUL4B, BRWD3, RAB39B, HUWE1 Other
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