Universität Regensburg Institut für Humangenetik

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

Details

Franz-Josef-Strauß-Allee 11
Regensburg 93053 , Germany

Accreditation

Active DAkkS D-ML-13082-01-00
Unclaimed listing · Claim this lab

Provides molecular human genetics testing using sequence capture and next-generation sequencing, alongside PCR and Sanger sequencing confirmation, primarily for genetic disorder diagnosis from blood samples.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13082-01-00

Status

Active

Since

29 April 2025

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.

Download Scope PDF
123 capabilities

Send an Enquiry

Request a quote, ask about capacity, or discuss your testing requirements directly with this lab.

Please select a test method from the list

Test Capabilities (123)

Standard Reference Description Category
(ABCA4) (ABCA4) Molecular Diagnostics / PCR
(ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ACOX1, ADAM9, ADAMTS18, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AGXT, AHI1, AHR, AIPL1, AIRE, ALMS1, AMACR, AP5Z1, APBA2, APOB, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATXN7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BLOC1S3, C1QTNF5, C3, CABP4, CACNA1F, CACNA2D4, CAPN5, CAV1, CC2D2A, CCDC51, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COA3, COA8, COL11A1, COL18A1, COL2A1, COL4A3, COL4A5, COL9A1, COQ2, COX10, COX14, COX20, COX6A2, COX6B1, COX8A, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CTNS, CTSD, CWC27, CYP4V2, DHDDS, DHX38, DNAJC30, DNM1L, DPM1, DRAM2, DTHD1, DYNC2H1, DYNC2I2, EFEMP1) (ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ACOX1, ADAM9, ADAMTS18, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AGXT, AHI1, AHR, AIPL1, AIRE, ALMS1, AMACR, AP5Z1, APBA2, APOB, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATXN7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, BLOC1S3, C1QTNF5, C3, CABP4, CACNA1F, CACNA2D4, CAPN5, CAV1, CC2D2A, CCDC51, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COA3, COA8, COL11A1, COL18A1, COL2A1, COL4A3, COL4A5, COL9A1, COQ2, COX10, COX14, COX20, COX6A2, COX6B1, COX8A, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CTNS, CTSD, CWC27, CYP4V2, DHDDS, DHX38, DNAJC30, DNM1L, DPM1, DRAM2, DTHD1, DYNC2H1, DYNC2I2, EFEMP1) Molecular Diagnostics / PCR
(ABCA4, BEST1, C1QTNF5, C3, CDH3, CDHR1, CFH, CNGB3, CRB1, CTNNA1, DRAM2, EFEMP1, ELOVL4, FBLN5, GUCA1B, IMPG1, IMPG2, KIF11, MAPKAPK3, MFSD8, PRDM13, PROM1, PRPH2, RDH5, RP1, RP1L1, RPE65, RPGR, RS1, TIMP3) MOCS2, MPV17, MRPS16, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, Molecular Diagnostics / PCR
(ABCC6, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, LEMD3, LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, P3H1, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, ZNF469) (ABCC6, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, LEMD3, LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, P3H1, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, ZNF469) Molecular Diagnostics / PCR
(ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ATP2B2, ATP6V1B1, BCAP31, BCS1L, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CEACAM16, CEP250, CHD7, CHSY1, CIB2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EXOSC2, EYA1, EYA4, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HSD17B4, IFNLR1, ILDR1, KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MANBA, MAP1B, MARVELD2, MCM2, MET, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15) (ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ATP2B2, ATP6V1B1, BCAP31, BCS1L, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CEACAM16, CEP250, CHD7, CHSY1, CIB2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EXOSC2, EYA1, EYA4, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HSD17B4, IFNLR1, ILDR1, KARS1, KCNE1, KCNJ10, KCNJ16, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MANBA, MAP1B, MARVELD2, MCM2, MET, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15) Molecular Diagnostics / PCR
(ABHD12, ADGRV1, ARSG, CDH23, CEP250, CIB2, CLRN1, ESPN, HARS1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN) (ABHD12, ADGRV1, ARSG, CDH23, CEP250, CIB2, CLRN1, ESPN, HARS1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN) Molecular Diagnostics / PCR
(ABRAXAS1, APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, FANCM, HOXB13, MEN, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2) (ABRAXAS1, APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, FANCM, HOXB13, MEN, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2) Molecular Diagnostics / PCR
(ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL) ADNP, ALDH5A1, AP1S2, ARX, AUTS2, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, DHCR7, DPP6, EHMT1, FGD1, FOXG1, FOXP1, FOXP2, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, Molecular Diagnostics / PCR
(ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PODXL, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, XPO5) (ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMA5, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PODXL, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, XPO5) Molecular Diagnostics / PCR
(ADAMTS9, ANKS6, ATXN10, CEP164, CEP290, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, SLC41A1, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR35, XPNPEP3, ZNF423) (ADAMTS9, ANKS6, ATXN10, CEP164, CEP290, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, SLC41A1, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR35, XPNPEP3, ZNF423) Molecular Diagnostics / PCR
(AGBL1, CHRDL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, FOXE3, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LOXHD1, OVOL2, PAX6, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, TUBA3D, UBIAD1, VSX1, ZEB1, ZNF469) (AGBL1, CHRDL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, FOXE3, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LOXHD1, OVOL2, PAX6, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, TUBA3D, UBIAD1, VSX1, ZEB1, ZNF469) Molecular Diagnostics / PCR
(ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH) (ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH) Molecular Diagnostics / PCR
(BRCA1, BRCA2) Inhibitor Therapie (BRCA1, BRCA2) Molecular Diagnostics / PCR
(CABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RPE65, SAG, SLC24A1, TRPM1) (CABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RPE65, SAG, SLC24A1, TRPM1) Molecular Diagnostics / PCR
(CDKN2A) (CDKN2A) Molecular Diagnostics / PCR
(CYP4V2) (CYP4V2) Molecular Diagnostics / PCR
(DDB1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC) (DDB1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC) 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, 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, 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
(FBN1, TGFBR1, TGFBR2) Marfan-Syndrom (Panel) (FBN1, TGFBR1, TGFBR2) Molecular Diagnostics / PCR
(GJB2, GJB6) (GJB2, GJB6) Molecular Diagnostics / PCR
(HCM) / Hypertrophe obstruktive (HCM) / Hypertrophe obstruktive Molecular Diagnostics / PCR
(LCA) (AIPL1, CRB1, CRX, GUCY2D, LCA5, RDH12, RPE65, RPGRIP ) (LCA) (AIPL1, CRB1, CRX, GUCY2D, LCA5, RDH12, RPE65, RPGRIP ) Molecular Diagnostics / PCR
(LCA) (Panel) (AGBL5, AIPL1, ALMS1, CABP4, CCT2, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, USP45) SDHB, SDHC, SDHD, SERAC1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC33A1, SLC39A8, SLC6A8, SPG7, STAT2, STXBP1, Molecular Diagnostics / PCR
(MLH1, MSH2, MSH6 PMS2) (MLH1, MSH2, MSH6 PMS2) Molecular Diagnostics / PCR
(NDP) Norrie-Syndrom (NDP) Molecular Diagnostics / PCR
(OAT) Atrophia gyrata (OAT) Molecular Diagnostics / PCR
(PDE1C, PDZD7, PEX1, PEX6, PHYH, PJVK, PLS1, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, RNF220, ROR1, S1PR2, SALL1, SCD5, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK, USH1C, USH1G, USH2A, VIPAS39, VPS33B, WBP2, WFS1, WHRN) (PDE1C, PDZD7, PEX1, PEX6, PHYH, PJVK, PLS1, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, RNF220, ROR1, S1PR2, SALL1, SCD5, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK, USH1C, USH1G, USH2A, VIPAS39, VPS33B, WBP2, WFS1, WHRN) Molecular Diagnostics / PCR
(PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDZD7, PET100, PEX1) (PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDZD7, PET100, PEX1) Molecular Diagnostics / PCR
(PRDM13) (PRDM13) Molecular Diagnostics / PCR
(PTCH1, PTCH2, SUFU) (PTCH1, PTCH2, SUFU) Molecular Diagnostics / PCR
(PTH1R) (PTH1R) Molecular Diagnostics / PCR
(Panel) (APC, BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53) (Panel) (APC, BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53) Molecular Diagnostics / PCR
(Panel) (FREM1, FREM2, FXYD2, GANAB, GAPVD1, GATA2, GATA3, GDNF, GLIS2, GNA11, GREB1L, GREM1, GRHPR, GRIP1, HNF1B, HOGA1, HSD11B2, HYLS1, IFT172, IFT27, IFT74, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, ITSN2, KANK1, KANK2, KANK4, KCNJ1, KCNJ10, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KL, KLHL3, LAMA5, LAMB2, LIFR, LMNA, LMX1B, LRP4, LRP5, LZTFL1, MAGED2, MAGI2, MAPKBP1, MKKS, MKS1, MMACHC, MMADHC, MMUT, MUC1, MYH9, MYO1E, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OFD1, OSR1, PAX2, PBX1, PDE6D, PDPR, PDSS2, PHEX, PIBF1, PIGA, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, POC1B, PTPRO, PXDN, REN, RET, ROBO2, RPGRIP1L, SALL1, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC1A1, SLC2A2, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1) (Panel) (FREM1, FREM2, FXYD2, GANAB, GAPVD1, GATA2, GATA3, GDNF, GLIS2, GNA11, GREB1L, GREM1, GRHPR, GRIP1, HNF1B, HOGA1, HSD11B2, HYLS1, IFT172, IFT27, IFT74, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, ITSN2, KANK1, KANK2, KANK4, KCNJ1, KCNJ10, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KL, KLHL3, LAMA5, LAMB2, LIFR, LMNA, LMX1B, LRP4, LRP5, LZTFL1, MAGED2, MAGI2, MAPKBP1, MKKS, MKS1, MMACHC, MMADHC, MMUT, MUC1, MYH9, MYO1E, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OFD1, OSR1, PAX2, PBX1, PDE6D, PDPR, PDSS2, PHEX, PIBF1, PIGA, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, POC1B, PTPRO, PXDN, REN, RET, ROBO2, RPGRIP1L, SALL1, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC1A1, SLC2A2, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1) Molecular Diagnostics / PCR
(Panel) (TMC6, TMC8) (Panel) (TMC6, TMC8) Molecular Diagnostics / PCR
(STK11) Peutz-Jeghers-Syndrom (STK11) Molecular Diagnostics / PCR
(TP53) Li-Fraumeni-Syndrom (TP53) Molecular Diagnostics / PCR
(TTPA, TUB, TULP1, USH2A, ZNF408, ZNF513) (TTPA, TUB, TULP1, USH2A, ZNF408, ZNF513) Molecular Diagnostics / PCR
(TTR) Familiäre Amyloidose (TTR) Molecular Diagnostics / PCR
(UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513) (UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513) Molecular Diagnostics / PCR
(WES): SNV, CNV (WES): SNV, CNV 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
Achromatopsie (Panel) (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H) Achromatopsie (Panel) (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H) Molecular Diagnostics / PCR
Albinismus (OCA2) Albinismus (OCA2) Molecular Diagnostics / PCR
Alport-Syndrom (Panel) (COL4A1, COL4A3, COL4A4, COL4A5,MYH9) Alport-Syndrom (Panel) (COL4A1, COL4A3, COL4A4, COL4A5,MYH9) Molecular Diagnostics / PCR
Amyloidose (Panel) (APOA1, APOA2, APP, B2M, CST3, FGA, GLA, GSN, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, SCN9A, SCN10A, SCN11A, TRPA1, TTR) Amyloidose (Panel) (APOA1, APOA2, APP, B2M, CST3, FGA, GLA, GSN, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, SCN9A, SCN10A, SCN11A, TRPA1, TTR) Molecular Diagnostics / PCR
Aortendissektion (COL3A1) Aortendissektion (COL3A1) Molecular Diagnostics / PCR
Aortendissektion (Panel) (ACTA2, COL3A1, FBN1, FLNA, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2) Aortendissektion (Panel) (ACTA2, COL3A1, FBN1, FLNA, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2) Molecular Diagnostics / PCR
Bardet-Biedl-Syndrom (Panel) Bardet-Biedl-Syndrom (Panel) Molecular Diagnostics / PCR
Basalzellnävus-Syndrom (Panel) Basalzellnävus-Syndrom (Panel) Molecular Diagnostics / PCR
Bietti kristalline Dystrophie Bietti kristalline Dystrophie Molecular Diagnostics / PCR
Choroideremie (CHM) Choroideremie (CHM) Molecular Diagnostics / PCR
Cowden-Syndrom (PTEN) Cowden-Syndrom (PTEN) Molecular Diagnostics / PCR
Dilatative Kardiomyopathie (DCM) Dilatative Kardiomyopathie (DCM) Molecular Diagnostics / PCR
Dystrophie (ZSD) (ABCA4, PRPH2, RPGR) Dystrophie (ZSD) (ABCA4, PRPH2, RPGR) Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom (Panel) Ehlers-Danlos-Syndrom (Panel) Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom, vaskulärer Ehlers-Danlos-Syndrom, vaskulärer Molecular Diagnostics / PCR
Epidermodysplasia verruciformus Epidermodysplasia verruciformus Molecular Diagnostics / PCR
Erkrankungen Hereditäre Nierenerkrankungen Molecular Diagnostics / PCR
Familiäre exsudative Familiäre exsudative Molecular Diagnostics / PCR
Familiäres Brust- und Familiäres Brust- und Molecular Diagnostics / PCR
Familiäres atyp. multiples Familiäres atyp. multiples Molecular Diagnostics / PCR
Fiebersyndrome (Panel) (ADA2, ANGPT1, CARD14, ELANE, F12, HS3ST6, IL1RN, IL36RN, KNG1, LACC1, LPIN2, MEFV, MVK, MYOF, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PLG, PSMB8, PSTPIP1, RBCK1, RIPK1, SERPING1, STING1, TNFAIP3, TNFRSF1A, WDR1) Fiebersyndrome (Panel) (ADA2, ANGPT1, CARD14, ELANE, F12, HS3ST6, IL1RN, IL36RN, KNG1, LACC1, LPIN2, MEFV, MVK, MYOF, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PLG, PSMB8, PSTPIP1, RBCK1, RIPK1, SERPING1, STING1, TNFAIP3, TNFRSF1A, WDR1) Molecular Diagnostics / PCR
Fokale und segmentale Fokale und segmentale Molecular Diagnostics / PCR
Glomerulosklerose (FSGS) (Panel) Glomerulosklerose (FSGS) (Panel) Molecular Diagnostics / PCR
Hereditäre Hörstörungen (Panel) Hereditäre Hörstörungen (Panel) Molecular Diagnostics / PCR
Hereditäres nicht polypöses Hereditäres nicht-polypöses Molecular Diagnostics / PCR
Hornhaut-Dystrophie (Panel) Hornhaut-Dystrophie (Panel) Molecular Diagnostics / PCR
Kardiomyopathie (HOCM) (Panel) Kardiomyopathie (HOCM) (Panel) Molecular Diagnostics / PCR
Kardiomyopathien (ABCC9, ACTC1, ACTN2, BAG3, CDH2, CSRP3, DES, DMD, DOLK, DSC2, DSP, EPG5, FKTN, FLNC, IDH2, MYL3, JUP, LAMP2, PKP2, LMNA, MYBPC3, MYH7, MYL2, NEXN, NKX2-5, PLN, RBM20, SCN5A, WWTR1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, GLA, GUSB, IDUA, PLD1, TGFB2, NONO, ALPK3, CACNA1C, CALM1, CALM2, CALM3, CASQ2, EMD, FHL1, FHOD3, GLRA1, HCN4, KCNE1, KCNH2, KCNJ2, KCNQ1, PHOX2B, PRKAG2, TRIM63, TSPYL1, AARS2, ACAD9, ACADVL, ACTA1, AGK, ALMS1, COA5, COA6, COX10, COX15, CPT2, DNAJC19, FXN, GAA, HADHA, HADHB, LMOD2, MLYCD, MRPL44, MMUT, NDUFA11, NDUFA2, NDUFAF1, NDUFB11, NDUFS2, NDUFS8, Tumor (Panel) ( MAP3K1, MAX, MBD4, MDH2, MDM2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, NBN, NDUFA13, NF1, NF2, NKX2-1, NOTCH3, NRG1, NTHL1, NTRK1, PALB2, PAX3, PBRM1, PDGFRA, PHOX2B, PIK3CA, PIK3R1, PKD2, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RAD54L, RB1, RECQL4, REST, RET, RHBDF2, RINT1, RNF43, RPS20, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRGAP1, STK11, SUFU, TERF2IP, TERT, TINF2, TMEM127, TP53, TRIM28, TSC1, TSC2, UBE2T, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2) Molecular Diagnostics / PCR
Katarakt (Panel) (ABCB6, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, RYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPG5, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FOXC1, FOXE3, FTL, FYCO1, GALK1, GCNT2, GEMIN4, GJA3, GJA8, GLA, HMX1, HSF4, JAM3, LIM2, LONP1, LTBP2, MAF, MIP, MYH9, NHS, OPA3, P3H2, PAX6, PITX2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TMEM114, VIM, VSX2, WFS1) Katarakt (Panel) (ABCB6, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, RYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPG5, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FOXC1, FOXE3, FTL, FYCO1, GALK1, GCNT2, GEMIN4, GJA3, GJA8, GLA, HMX1, HSF4, JAM3, LIM2, LONP1, LTBP2, MAF, MIP, MYH9, NHS, OPA3, P3H2, PAX6, PITX2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TMEM114, VIM, VSX2, WFS1) Molecular Diagnostics / PCR
Kolonkarzinom (HNPCC) (Panel) Kolonkarzinom (HNPCC) (Panel) Molecular Diagnostics / PCR
Kolonkarzinom mit Polyposis Kolonkarzinom mit Polyposis Molecular Diagnostics / PCR
Kolonkarzinom mit Polyposis (APC, BMPR1A, MUTYH, PTEN, SMAD4, TP53) Kolonkarzinom mit Polyposis (APC, BMPR1A, MUTYH, PTEN, SMAD4, TP53) Molecular Diagnostics / PCR
Kongenitale stationäre Kongenitale stationäre Molecular Diagnostics / PCR
Lebersche kongenitale Amaurose Lebersche kongenitale Amaurose Molecular Diagnostics / PCR
M. Best (BEST1) M. Best (BEST1) Molecular Diagnostics / PCR
Makuladystrophie (MD) (ABCA4, BEST1, PRPH2, RPGR]) Makuladystrophie (MD) (ABCA4, BEST1, PRPH2, RPGR]) Molecular Diagnostics / PCR
Makuladystrophie (MD) (Panel) Makuladystrophie (MD) (Panel) Molecular Diagnostics / PCR
Makuladystrophie Typ Stargardt Makuladystrophie Typ Stargardt Molecular Diagnostics / PCR
Morbus Stargardt (Panel) (ABCA4, CNGB3, ELOVL4, PROM1, PRPH2) Morbus Stargardt (Panel) (ABCA4, CNGB3, ELOVL4, PROM1, PRPH2) Molecular Diagnostics / PCR
Mukopolysaccharidosen (Panel) Mukopolysaccharidosen (Panel) Molecular Diagnostics / PCR
Musterdystrophie (PRPH2) Musterdystrophie (PRPH2) Molecular Diagnostics / PCR
Muttermal- und Melanom-Syndrom Muttermal- und Melanom-Syndrom Molecular Diagnostics / PCR
Nachtblindheit (CSNB) (Panel) Nachtblindheit (CSNB) (Panel) Molecular Diagnostics / PCR
Nephronophthise (Panel) Nephronophthise (Panel) Molecular Diagnostics / PCR
Netzhauterkrankungen (Panel) Netzhauterkrankungen (Panel) Molecular Diagnostics / PCR
Neuropathie (LHON) (MTND, DNAJC30) Neuropathie (LHON) (MTND, DNAJC30) Molecular Diagnostics / PCR
Nicht-syndromale Hörstörung Nicht-syndromale Hörstörung Molecular Diagnostics / PCR
Nichtsyndromale Hörstörungen Nichtsyndromale Hörstörungen Molecular Diagnostics / PCR
North Carolina Makuladystrophie North Carolina Makuladystrophie Molecular Diagnostics / PCR
Optikusatrophie (OPA1) Optikusatrophie (OPA1) Molecular Diagnostics / PCR
Optikusatrophie (Panel) (ACO2, AFG3L2, CISD2, DNAJC30, DNM1L, ELOVL1, FDXR, MCAT, MFN2, MIEF1, MTPAP, MTRFR, NBAS, NDUFS2, NR2F1, OPA1, OPA3, PRPS1, RTN4IP1, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1) Optikusatrophie (Panel) (ACO2, AFG3L2, CISD2, DNAJC30, DNM1L, ELOVL1, FDXR, MCAT, MFN2, MIEF1, MTPAP, MTRFR, NBAS, NDUFS2, NR2F1, OPA1, OPA3, PRPS1, RTN4IP1, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1) Molecular Diagnostics / PCR
Ovarialkarzinom (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53) Ovarialkarzinom (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D, TP53) Molecular Diagnostics / PCR
Ovarialkarzinom (Panel) Ovarialkarzinom (Panel) Molecular Diagnostics / PCR
Peutz-Jeghers Syndrom (APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PRKAR1A, PTEN, RAD51C, RAD51D, RNF43, SEC23B, SMAD4, STK11, TP53 ); SNV, CNV Ziliopathie (Panel) ( RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, STK36, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRAPPC3, TRIM32, TTC21B, TTC8, TXNDC15, VPS13B, WDPCP, WDR19, WDR35, ZMYND10, ZNF408, ZNF423, ZSWIM6) Molecular Diagnostics / PCR
Primäre Zahndurchbruchstörung Primäre Zahndurchbruchstörung Molecular Diagnostics / PCR
Retinitis pigmentosa (RP) (ABCA4, BEST1, IMPDH1, POMGNT1, PRPF31, PRPH2, RHO, RP1, RPGR) Retinitis pigmentosa (RP) (ABCA4, BEST1, IMPDH1, POMGNT1, PRPF31, PRPH2, RHO, RP1, RPGR) Molecular Diagnostics / PCR
Retinitis pigmentosa (RP) (Panel) Retinitis pigmentosa (RP) (Panel) Molecular Diagnostics / PCR
Retinoschisis (RS1) Retinoschisis (RS1) Molecular Diagnostics / PCR
Sequenzierung: ABCG5, ABCG8, APOB, APOE, CYP27A1, DHCR7, DHCR24, LDLR, LDLRAP1, LIPA, NPC1L1, PCSK9, SORT1; CNV: Whole-Exome-Sequenzierung Molecular Diagnostics / PCR
Sorsby Fundusdystrophie (TIMP3) Sorsby Fundusdystrophie (TIMP3) Molecular Diagnostics / PCR
Thorakales Aortenaneurysma und Thorakales Aortenaneurysma und Molecular Diagnostics / PCR
Tumor (Panel) (ABL1, ABRAXAS1, ACD, ADM, AIP, AKT1, AKT2, ALK, APC, AR, ARID1A, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CCND1, CDC73, CDH1, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CHEK2, CTR9, CYLD, DDB2, DICER1, DIS3L2, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESR1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GPC3, GREM1, HABP2, HNF1A, HOXB13, HRAS, KIF1B, KIT, KLLN, LZTR1) Tumor (Panel) (ABL1, ABRAXAS1, ACD, ADM, AIP, AKT1, AKT2, ALK, APC, AR, ARID1A, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CCND1, CDC73, CDH1, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CHEK2, CTR9, CYLD, DDB2, DICER1, DIS3L2, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESR1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GPC3, GREM1, HABP2, HNF1A, HOXB13, HRAS, KIF1B, KIT, KLLN, LZTR1) Molecular Diagnostics / PCR
Typ IV (COL3A1) Typ IV (COL3A1) Molecular Diagnostics / PCR
Usher-Syndrom (USH) (Panel) Usher-Syndrom (USH) (Panel) Molecular Diagnostics / PCR
Usher-Syndrom (USH2A, PCDH15) Usher-Syndrom (USH2A, PCDH15) Molecular Diagnostics / PCR
Vitreoretinopathie (FZD4, LRP5, NDP) Vitreoretinopathie (FZD4, LRP5, NDP) Molecular Diagnostics / PCR
Vitreoretinopathie (Panel) (CAPN5, CTNNB1, FZD4, KIF11, LRP5, NDP, RCBTB1, TREX1, TSPAN12, VCAN, ZNF408) Vitreoretinopathie (Panel) (CAPN5, CTNNB1, FZD4, KIF11, LRP5, NDP, RCBTB1, TREX1, TSPAN12, VCAN, ZNF408) Molecular Diagnostics / PCR
Xeroderma pigmentosum (Panel) Xeroderma pigmentosum (Panel) Molecular Diagnostics / PCR
Zerebral-vaskuläre Fehlbildungen Zerebral-vaskuläre Fehlbildungen Molecular Diagnostics / PCR
chromosomal (RPGR, RP2) chromosomal (RPGR, RP2) Molecular Diagnostics / PCR
(ABCA4, ADAM9, CFAP418, CDHR1, CERKL, CNGB3, CRX, EYS, FSCN2, GUCY2D, KCNV2, PDE6C, POC1B, PROM1, RAB28, RPE65, RPGRIP1, TULP1, DRAM2, SEMA4A, PCARE, GUCA1A, RIMS1, TTLL5, TLCD3B, PITPNM3, UNC119, RAX2, RPGR, CACNA1F, COG6, OPN1LW ); SNV, CNV CHMP2B, DCTN1, ERBB4, FIG4, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54) Other
(ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, (ABCA4, ADGRA3, ADIPOR1, AGBL5, AHI1, AHR, AP5Z1, ARHGEF18, ARL2BP, ARL3, ARL6, ASRGL1, BBS1, BBS2, BEST1, CACNA1F, CC2D2A, CCDC51, CDHR1, CEP290, CEP78, CERKL, CFAP418, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, DYNC2I2, EMC1, ENSA, EXOSC2, EYS, FAM161A, FLVCR1, GNAT1, GUCA1B, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, KIAA1549, KIF3B, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, MVK, NAALADL1, NEK2, NEUROD1, NR2E3, NRL, OAT, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, POC1B, POMGNT1, PRCD, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, Other
(ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CHST14, COL1A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IKZF5, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, (Panel) (ACE, ACTN4, ADAMTS13, ADAMTS9, AGT, AGTR1, AGXT, AHI1, ALDH1A2, ALMS1, ALPL, ANKFY1, ANKS6, ANLN, APOE, APOL1, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATXN10, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BSND, C1QA, C1QB, C1QC, C2CD3, C3, C8orf37, CA2, CASR, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CDC5L, CELSR2, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFB, CFH, CFHR1, Other
(Panel) SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SOX17, SPRY1, SRGAP1, SUFU, SYNPO, TBC1D1, TBC1D8B, TBX18, TBX6, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TTC21B, TTC8, TXNDC15, UMOD, UPK3A, VDR, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WDR73, WNK1, WNK4, WNT4, WNT5A, WT1, XPNPEP3, XPO5, ZNF423) (Panel) SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SOX17, SPRY1, SRGAP1, SUFU, SYNPO, TBC1D1, TBC1D8B, TBX18, TBX6, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TTC21B, TTC8, TXNDC15, UMOD, UPK3A, VDR, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WDR73, WNK1, WNK4, WNT4, WNT5A, WT1, XPNPEP3, XPO5, ZNF423) Other
6, SMAD6, TLL1, ZFPM2, ZIC3, ABCC9, ADAMTS19, COL1A2, FBN2, FGFR2, FKBP14, FOXH1, HAND1, HAND2, HYAL2, IPO8, IRX4, LAMA4, LEFTY1, LEFTY2, MMP21, MYH7, MYOM2, PBX1, PLXND1, ROBO4, SMAD2, TFAP2B, ABL1, CBL, CHD7, KDM6A, KMT2D, KRAS, MAP2K1, MAP2K2, NRAS, NSD1, PTPN11, RAF1, RIT1, SHOC2, ZEB2, ARID1A, ASXL1, BCOR, BRAF, CDK13, CHD4, CREBBP, EHMT1, EP300, EVC, EVC2, HRAS, LZTR1, MRAS, NF1, PPP1CB, PRKD1, RAI1, RRAS2, SETBP1, SOS2, TRAF7, Ziliopathie (Panel) (AHI1, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP83, CFAP298, CFAP300, CFAP410, CFAP418, CFTR, CILK1, CPLANE1, CRB2, CSPP1, DDX59, DHCR7, DLG5, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, Other
ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, CSNK1A1, CUX1, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, FLT3-ITD, GATA1, GATA2, GNB1, IDH1, IDH2, IL6R, JAK2, KIT, KRAS, MPL, MYD88, NF1, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PIGA, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZEB2, ZRSR2)² ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, CSNK1A1, CUX1, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, FLT3-ITD, GATA1, GATA2, GNB1, IDH1, IDH2, IL6R, JAK2, KIT, KRAS, MPL, MYD88, NF1, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PHF6, PIGA, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZEB2, ZRSR2)² Other
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
ELOVL1, ELOVL4, EMC1, ENSA, ERCC3, ERCC6, ERCC8, ESPN, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PITX2, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POC5, POGZ, POLR2D, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SDHA, SDHAF1, SDHD, SEMA4A, SEMA6B, SLC19A2, SLC24A1, SLC25A46, SLC35A2, SLC4A7, SLC7A14, SNRNP200, SPATA7, SPG7, SPP2, SSBP1, SUMF1, TACO1, TCTN1, TEAD1, TIMM8A, TIMP3, TINF2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXN2) ELOVL1, ELOVL4, EMC1, ENSA, ERCC3, ERCC6, ERCC8, ESPN, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PITX2, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POC5, POGZ, POLR2D, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PROS1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SDHA, SDHAF1, SDHD, SEMA4A, SEMA6B, SLC19A2, SLC24A1, SLC25A46, SLC35A2, SLC4A7, SLC7A14, SNRNP200, SPATA7, SPG7, SPP2, SSBP1, SUMF1, TACO1, TCTN1, TEAD1, TIMM8A, TIMP3, TINF2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXN2) Other
NTRK1, POT1, PRKAR1A, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SRGAP1, STK11, TERT, TINF2, TP53) NTRK1, POT1, PRKAR1A, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SRGAP1, STK11, TERT, TINF2, TP53) Other
RP1L1, RP2, RP9, RPE65, RPGR, SAMD11, SCAPER, SCLT1, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TOPORS, TRNT1, TTC8) RP1L1, RP2, RP9, RPE65, RPGR, SAMD11, SCAPER, SCLT1, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TOPORS, TRNT1, TTC8) Other
Report incorrect or outdated information
0 labs selected
Compare