Gen-Panel-Diagnostik

Letzte Aktualisierung am 16.08.2018

Name

AUG-010: Augenfehlbildungen *

AUG-020: Möbius-Syndrom/Okulofaziale Parese *

BIN-010: Arthrogryposis *

BIN-020: Ehlers-Danlos-Syndrom (vaskulärer Typ) *

BIN-021: Ehlers-Danlos-Syndrom (weitere)  *

BIN-030: Marfan-Syndrom *

BIN-031: Marfan-ähnliche Erkrankungen *

BIN-040: Thorakale Aortenaneurysmen und Aortendissektion *

EPI-010: Epileptische Enzephalopathien (m) *


Gen-Set (<25 kb)
SCN1A, SCN2A, KCNQ2, STXBP1, GABRG2, KCNT1, CDKL5

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-020: Epileptische Enzephalopathien (w) *


Gen-Set (<25 kb)
SCN1A, SCN2A, CDKL5, PCDH19, KCNQ2, MECP2, STXBP1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-030: Benigne Neugeborenenkrämpfe *


Gen-Set (<25 kb)
KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-040: Generalisierte und fokale Epilepsien *


Gen-Set (<25 kb)
SCN1A, SCN2A, SLC2A1, GRIN2A, KCNQ2, GABRG2, PRRT2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-050: nächtliche Frontallappenepilepsie *


Gen-Set (<25 kb)
CHRNA4, CHRNB2, CHRNA2, KCNT1, DEPDC5

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-060: Epilepsie und X-gekoppelte Metale Retardierung *


Gen-Set (<25 kb)
CDKL5, MECP2, PCDH19, ARX, ATRX, SLC9A6, PGK1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-070: Neuronale Ceroid-Lipofuszinosen u. neurodegenerative Erkrankungen (NCL) *


Gen-Set (<25 kb)
ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GRN, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, PRICKLE2, SCARB2, TPP1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-080: Leukodystrophie und Leukoenzephalopathie *


Gen-Set (<25 kb)
ARSA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, GALC, GJC2, PLP1, TREX1, TUBB4A, PEX1, PEX10

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-090: Syndromale Epilepsie (ohne schwere Enzephalopathie) *


Gen-Set (<25 kb)
UBE3A, MECP2, FOXG1, ZEB2, ARX, CDKL5, GRIN2A, MEF2C, SCN8A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EPI-100: Epilepsien mit besonderer Therapierelevanz *


Gen-Set (<25 kb)
ALDH7A1, GRIN2A, FOLR1, KCNA2, KCNQ2, PNPO, PRRT2, SCN1A, SCN2A, SLC2A1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ADSL, ALDH7A1, ALG13, ANO3, ARHGEF15, ARHGEF9, ARSA, ARX, ASAH1, ASPM, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, ATRX, BTD, C19orf12, CACNA1A, CACNA1H, CACNB4, CARS2, CASK, CASR, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CIZ1, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, CTSF, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DPAGT1, DPM2, DYRK1A, EFHC1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP4, EPM2A, ETFDH, ETHE1, FARS2, FBXL4, FGD1, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GFM1, GJC2, GLDC, GNAL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HEXA, HNRNPU, HPCA, IBA57, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIF1A, LAMA2, LGI1, LYRM7, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NEDD4L, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, OPHN1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDHB, PDHX, PEX1, PEX10, PGK1, PHF6, PIGA, PIGL, PIGM, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRRT2, QARS, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, SIK1, SLC12A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SMS, SPR, SPTAN1, STX1B, STXBP1, SUOX, SYNGAP1, SZT2, TAF1, TARS2, TBC1D24, TCF4, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBB2B, TUBB4A, UBE2A, UBE3A, VARS2, VPS13A, WDR45, WDR62, WFS1, WWOX, ZEB2

EWS-010: Coffin-Siris-Syndrom und CSS-like *

EWS-020: Kabuki-Syndrom *

EWS-030: Makrozephalie *

EWS-040: Mikrozephalie *

EWS-050: Cornelia-de-lange-Syndrom und CdLs-like *

EWS-060: Noonan-Syndrom *

EWS-070: Progerie-Syndrom *


Gen-Set (<25 kb)
AGPAT2, B4GALT7, BSCL2, ERCC6, ERCC8, LMNA, GORAB, NF2, POLD1, WRN

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AGPAT2, ALDH18A1, B4GALT7, BMP4, BSCL2, ERCC6, ERCC8, GORAB, LMNA, NF2, PIK3R1, POLD1, PYCR1, WRN

EWS-080: unspezifische geistige Behinderung *


Gen-Set (<25 kb)
ARID1B, TCF4, ATRX, CUL4B, GRIN2B, ARX

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AAAS, AARS, AASS, ABCC8, ABCD1, ABHD5, ACADM, ACAT1, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACY1, ADAMTSL2, ADAR, ADK, ADNP, ADSL, AFF2, AGA, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG13, ALG2, ALMS1, AMER1, AMT, ANKRD11, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, APTX, ARFGEF2, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL6, ARSA, ARSE, ARX, ASL, ASNS, ASPM, ASS1, ASXL1, ATIC, ATL1, ATP13A2, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATR, ATRX, ATXN1, ATXN10, AUH, AVPR2, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BIN1, BLM, BRAF, BRWD3, BSCL2, BSND, BTD, BUB1B, C12orf57, C12orf65, CPLANE1, CA2, CA8, CACNA1A, CASK, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CEP41, CFH, CHD2, CHD7, CHD8, CHKB, CHRNA4, CHST14, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNBP, CNKSR2, CNNM2, CNTNAP2, COA5, COL18A1, COL4A1, COQ2, COQ8A, COQ9, COX15, COX6B1, CPS1, CRBN, CREBBP, CRLF1, CSTB, CTDP1, CTNNB1, CTSA, CTSD, CUL3, CUL4B, CYB5R3, CYP27A1, D2HGDH, DAG1, DARS2, DBT, DCAF17, DCX, DDC, DDX11, DEAF1, DKC1, DLD, DLG3, DMD, DMPK, DNAJC19, DNMT3A, DNMT3B, DPAGT1, DPM1, DPYD, DPYS, DUOXA2, DYRK1A, EBP, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EP300, EPM2A, ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETHE1, EVC, EVC2, EXOSC3, FA2H, FAM126A, FAM20C, FANCA, FANCC, FANCD2, FANCE, FANCL, FARS2, FASTKD2, FBN1, FBN2, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLNB, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FTSJ1, FUCA1, G6PC3, GABRA1, GABRG2, GALC, GALE, GALT, GAMT, GAN, GATM, GBA, GCH1, GCK, GCSH, GFAP, GJB1, GJC2, GK, GLB1, GLDC, GLI3, GNAS, GNE, GNPAT, GNPTAB, GNS, GPC3, GPI, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GSS, GTF2H5, GUSB, HADH, HCCS, HCN1, HDAC4, HDAC8, HEPACAM, HGSNAT, HLCS, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HSPG2, HUWE1, IDS, IDUA, IER3IP1, IGBP1, IGF1, IKBKG, IL1RAPL1, INSR, IQSEC2, ISPD, ITGA7, ITPR1, IVD, JAG1, JAM3, KANSL1, KCNC3, KCNJ1, KCNJ10, KCNQ2, KCNQ3, KCTD7, KDM5C, KDM6A, KIF11, KIF1A, KIF5A, KIF7, KMT2D, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LBR, LHX3, LMNB1, LRP2, LRPPRC, LYST, MAF, MAGEL2, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAT1A, MBD5, MCCC1, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MFSD8, MGAT2, MID1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPV17, MTHFR, MTR, MUT, MVK, MYCN, MYH3, MYO5A, MYT1L, NAA10, NAGA, NAGLU, NAGS, NBN, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEXMIF, NFIX, NGF, NHLRC1, NHS, NIPBL, NKX2-1, NKX2-5, NLGN3, NLGN4X, NPC1, NPC2, NPHP1, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NTRK1, NUBPL, NUP62, OCLN, OCRL, OFD1, OPA3, OPHN1, ORC1, OTC, OTX2, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX6, PC, PCDH19, PCNT, PDE4D, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PDYN, PEPD, PEX1, PEX10, PEX13, PEX19, PEX2, PEX26, PEX3, PEX5, PEX7, PGK1, PHF6, PHF8, PHGDH, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PLA2G6, PLCB1, PLOD1, PLP1, PNKP, PNP, PNPLA6, PNPO, POGZ, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPP2R1A, PPT1, PQBP1, PRKCG, PRODH, PRPS1, PRSS12, PSAP, PSPH, PTCH1, PTCHD1, PTEN, PTPN11, PTS, PUS1, PYCR1, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAI1, RARS2, RBBP8, RBM10, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPL10, RPS6KA3, RRM2B, SALL1, SAMHD1, SATB2, SBDS, SCN1A, SCN2A, SCN8A, SCO2, SDHA, SDHAF1, SEMA3E, SETBP1, SGSH, SHANK2, SHANK3, SHOC2, SIL1, SIX3, SKI, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC25A15, SLC25A22, SLC2A1, SLC35C1, SLC3A1, SLC4A4, SLC5A5, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A6, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMOC1, SMPD1, SMS, SNAP29, SNRPN, SOS1, SOX10, SOX2, SOX3, SPART, SPAST, SPG11, SPINK5, SPTAN1, SRCAP, SRD5A3, ST3GAL3, ST3GAL5, STRA6, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, TAT, TBC1D24, TBCE, TCF4, TCN2, TG, TGFBR1, TGFBR2, TIMM8A, TMCO1, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TREX1, TRIM32, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC8, TTI2, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, TUSC3, TWNK, UBE2A, UBE3A, UBR1, UPB1, UPF3B, UQCRB, UQCRQ, USP9X, VIPAS39, VLDLR, VPS13B, VPS33B, VRK1, WDR45, WDR62, WFS1, WNT5A, WWOX, XPA, XPNPEP3, XYLT1, ZBTB16, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMYND11, ZNF592, ZNF711

EWS-090: X-chromosomale Mentale Retardierung (XLMR) *

EWS-100: Heterotaxie *


Gen-Set (<25 kb)
ACVR2B, CFC1, CITED2, CRELD1, DNAI1, GDF1, LEFTY2, NODAL, NKX2-5, NPHP4, PKD1L1, ZIC3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ACVR2B, CFC1, CITED2, CRELD1, DNAH5, DNAH11, DNAI1, GDF1, LEFTY2, NODAL, NKX2-5, NPHP4, PKD1L1, ZIC3

EWS-110: RASopathie *

FBS-010: Periodische Fiebersyndrome - häufigste genetische Ursachen *


Gen-Set (<25 kb)
ADA2, CARD14, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP3, NLRP12, NOD2, PSTPIP1, TNFRSF1A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADA2, AP1S3, CARD14, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP3, NLRP7, NLRP12, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, SLC29A3, TMEM173, TNFRSF1A, TNFRSF11A

FES-010: Kallmann-Syndrom / Hypogonadotroper Hypogonadismus *


Gen-Set (<25 kb)
ANOS1, FGFR1, FGF8, PROK2, PROKR2, GNRHR, GNRH1, KISS1, KISS1R, NSMF, WDR11, CHD7

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ANOS1, FGFR1, PROKR2, PROK2, CHD7, FGF8, GNRHR, KISS1R, NSMF, TAC3, TACR3, GNRH1, KISS1, WDR11, HS6ST1, SEMA3A, SPRY4, IL17RD, DUSP6, FGF17, FLRT3, FEZF1, LHB

HRN-010: Holoprosenzephalie *

HRN-020: Migrationsstörung *

HRN-030: Hydrozephalus *

HRZ-010: Hypertrophe Kardiomyopathien *


Gen-Set (<25 kb)
MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, CSRP3, TNNC1, ACTC1, ACTN2, JPH2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

HRZ-020: Dilatative Kardiomyopathien *


Gen-Set (<25 kb)
TTN, LMNA, MYH7, MYBPC3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

HRZ-030: Noonan-Syndrom/RASopathien *

HRZ-040: Herzfehler (nicht passend zu Noonan-Syndrom) *

HRZ-050: Long-QT-Syndrom *


Gen-Set (<25 kb)
KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

HRZ-060: Brugada-Syndrom *

MYO-010: Gliedergürtelmuskeldystrophien (LGMD) *


Gen-Set (<25 kb)
CAPN3, DYSF, FKRP, ANO5, GAA, SGCA, SGCB, SGCD, SGCG, LMNA, CAV3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-020: Myotonien und Periodische Paralysen *


Gen-Set (<25 kb)
CLCN1, SCN4A, CACNA1S, KCNJ2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-030: Spinale Muskelatrophien *


Gen-Set (<25 kb)
TRPV4, UBA1, BICD2, IGHMBP2, ASAH1, ATP7A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-040: Distale Myopathien *


Gen-Set (<25 kb)
DYSF, GNE, BICD2, FHL1, CAPN3, LMNA, FLNC

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-050: Strukturmyopathien *


Gen-Set (<25 kb)
ACTA1, TPM2, TPM3, BIN1, CFL2, DNM2, MTMR14, MTM1, SELENON, RYR1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-060: Myasthenien *


Gen-Set (<25 kb)
RAPSN, CHRNA1, CHRNB1, CHRND, CHRNE, CHAT, DOK7, MUSK, AGRN, COLQ, GFPT1, DPAGT1, SCN4A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-070: Myofibrilläre Myopathien *


Gen-Set (<25 kb)
LDB3, MYOT, FLNC, BAG3, CRYAB, DES, DNAJB6, FHL1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-080: Metabolische Myopathien *


Gen-Set (<25 kb)
G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PFKM, ACADVL, CPT2, ETFDH, PNPLA2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-090: Kongenitale Myopathien *


Gen-Set (<25 kb)
LAMA2, SELENON, COL6A1, COL6A2, COL6A3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-100: Kardiomyopathien (hypertroph) *


Gen-Set (<25 kb)
MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, CSRP3, TNNC1, ACTC1, ACTN2, JPH2, MYPN, PRKAG2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

MYO-110: Kardiomyopathien (dilatativ) *


Gen-Set (<25 kb)
TTN, LMNA, MYH7, MYBPC3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, ANK2, ANKRD1, ANO5, APTX, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1A, CACNA1S, CACNB4, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COQ8A, COX15, CPT2, CRYAB, CSRP3, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GBA2, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, JPH2, KBTBD13, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAG, MATR3, MEGF10, MGME1, MPV17, MSTN, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH2, MYH3, MYH6, MYH7, MYL2, MYL3, MYOT, MYOZ2, MYPN, NEB, NEXN, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, RAPSN, RBCK1, RBM20, RRM2B, RYR1, SCN4A, SCN5A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC1A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A1, SLC37A4, SLC5A7, SMCHD1, SNAP25, SNTA1, SPEG, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TMEM43, RXYLT1, TMPO, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TNXB, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, TWNK, TYMP, UBA1, UBQLN2, VAPB, VCL, VCP, VMA21, YARS2

NEU-010: Amyotrophe Latersklerose (familiär, fALS) *


Gen-Set (<25 kb)
SOD1, FUS, TARDBP, VAPB, ANG, FIG4, CHMP2B, ERBB4, MATR3, OPTN, UBQLN2, PFN1, VCP, SQSTM1, TBK1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ALS2, ANG, ATXN2, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GRN, MAPT, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPART, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, UBQLN2, VAPB, VCP

NEU-020: Amyotrophe Lateralsklerose (juvenil) *


Gen-Set (<25 kb)
ALS2, SETX, SPG11, SIGMAR1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ALS2, ANG, ATXN2, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GRN, MAPT, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPART, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, UBQLN2, VAPB, VCP

NEU-030: Ataxie (episodisch) *


Gen-Set (<25 kb)
CACNA1A, CACNB4, KCNA1, SLC1A3, SLC2A1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABCD1, ABHD12, AFG3L2, BSCL2, CACNA1A, CACNB4, CHCHD10, CYP27A1, CYP7B1, DARS2, DNMT1, GALC, GBA2, GFAP, GJB1, GLB1, GRID2, HEXA, KCNA1, KIF1C, MARS2, MTPAP, OPA1, OPA3, PDYN, PLA2G6, PNPLA6, POLG, PRPS1, SACS, SETX, SIL1, SLC1A3, SLC2A1, SLC52A2, SPG7, SPR, TDP1, VAMP1, VRK1

NEU-040: Spinocerebelläre Ataxien (Repeats)  * CO


Gen-Set (<25 kb)
SCA1, SCA2, SCA3, SCA6, SCA7, SCA17

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)

NEU-050: Ataxien (spinocerebellär, autosomal-dominant) *


Gen-Set (<25 kb)
AFG3L2, CACNA1A, CACNB4, DNMT1, KCNA1, PDYN, SLC1A3, VAMP1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABCD1, ABHD12, AFG3L2, BSCL2, CACNA1A, CACNB4, CHCHD10, CYP27A1, CYP7B1, DARS2, DNMT1, GALC, GBA2, GFAP, GJB1, GLB1, GRID2, HEXA, KCNA1, KIF1C, MARS2, MTPAP, OPA1, OPA3, PDYN, PLA2G6, PNPLA6, POLG, PRPS1, SACS, SETX, SIL1, SLC1A3, SLC2A1, SLC52A2, SPG7, SPR, TDP1, VAMP1, VRK1

NEU-060: Ataxien (spinocerebellär, autosomal-rezessiv) *


Gen-Set (<25 kb)
AFG3L2, GBA2, GRID2, KIF1C, MARS2, MTPAP, POLG, SETX, SPG7

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABCD1, ABHD12, AFG3L2, BSCL2, CACNA1A, CACNB4, CHCHD10, CYP27A1, CYP7B1, DARS2, DNMT1, GALC, GBA2, GFAP, GJB1, GLB1, GRID2, HEXA, KCNA1, KIF1C, MARS2, MTPAP, OPA1, OPA3, PDYN, PLA2G6, PNPLA6, POLG, PRPS1, SACS, SETX, SIL1, SLC1A3, SLC2A1, SLC52A2, SPG7, SPR, TDP1, VAMP1, VRK1

NEU-070: Familiäre hemiplegische Migräne (FHM) *


Gen-Set (<25 kb)
ATP1A2, ATP1A3, CACNA1A, PRRT2, SCN1A, SLC2A1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ATP1A2, ATP1A3, CACNA1A, POLG, PRRT2, SCN1A, SLC2A1

NEU-080: Neuronale Ceroid-Lipofuszinosen und neurodegenerative Erkrankungen (NCL) *

NEU-090: Leukodystrophie und Leukenzephalopathie *

NEU-100: Neuropathie Basisdiagnostik (Typ 1 und Typ 2) *

NEU-110: Neuropathie (primär demyelinisierend, Typ 1) *


Gen-Set (<25 kb)
PMP22, GJB1, MPZ, EGR2, NEFL, LITAF, GDAP1, SH3TC2, NDRG1, PRX, CTDP1, SBF2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AARS, ABCA1, ABCD1, ABHD12, AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ASAH1, ATL1, ATL3, ATP7A, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CACNA1A, CACNB4, CCT5, CHCHD10, COX10, COX6A1, CPT1C, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DDHD1, DDHD2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FUS, GAD1, GALC, GAN, GARS, GBA2, GCH1, GDAP1, GFAP, GJB1, GJB3, GJC2, GLB1, GNB4, GRID2, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IGHMBP2, INF2, KARS, KCNA1, KIF1A, KIF1B, KIF1C, KIF5A, KLHL13, L1CAM, LITAF, LMNA, LRSAM1, MAG, MARS, MARS2, MED25, MFN2, MICAL1, MPV17, MPZ, MTMR2, MTPAP, MYH14, NDRG1, NDUFAF5, NEFL, NGF, NIPA1, NT5C2, NTRK1, OPA1, OPA3, PANK2, PDK3, PDYN, PEX12, PLA2G6, PLEKHG5, PLP1, PMP22, PNPLA6, POLG, PRPS1, PRX, PSEN1, PSEN2, RAB7A, REEP1, REEP2, RETREG1, RTN2, SACS, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SETX, SH3BP4, SH3TC2, SIL1, SLC12A6, SLC16A2, SLC1A3, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTLC1, SPTLC2, SURF1, TARDBP, TDP1, TECPR2, TFG, TH, TRIM2, TRPV4, TTR, TUBB4A, UBA1, UBQLN2, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, WNK1, YARS, ZFYVE26, ZFYVE27

NEU-120: Neuropathie (primär axonal, Typ 2) *


Gen-Set (<25 kb)
MFN2, MPZ, GJB1, RAB7A, KIF1B, GARS, NEFL, HSPB1, HSPB8, LMNA

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AARS, ABCA1, ABCD1, ABHD12, AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ASAH1, ATL1, ATL3, ATP7A, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CACNA1A, CACNB4, CCT5, CHCHD10, COX10, COX6A1, CPT1C, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DDHD1, DDHD2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FUS, GAD1, GALC, GAN, GARS, GBA2, GCH1, GDAP1, GFAP, GJB1, GJB3, GJC2, GLB1, GNB4, GRID2, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IGHMBP2, INF2, KARS, KCNA1, KIF1A, KIF1B, KIF1C, KIF5A, KLHL13, L1CAM, LITAF, LMNA, LRSAM1, MAG, MARS, MARS2, MED25, MFN2, MICAL1, MPV17, MPZ, MTMR2, MTPAP, MYH14, NDRG1, NDUFAF5, NEFL, NGF, NIPA1, NT5C2, NTRK1, OPA1, OPA3, PANK2, PDK3, PDYN, PEX12, PLA2G6, PLEKHG5, PLP1, PMP22, PNPLA6, POLG, PRPS1, PRX, PSEN1, PSEN2, RAB7A, REEP1, REEP2, RETREG1, RTN2, SACS, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SETX, SH3BP4, SH3TC2, SIL1, SLC12A6, SLC16A2, SLC1A3, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTLC1, SPTLC2, SURF1, TARDBP, TDP1, TECPR2, TFG, TH, TRIM2, TRPV4, TTR, TUBB4A, UBA1, UBQLN2, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, WNK1, YARS, ZFYVE26, ZFYVE27

NEU-130: Neuropathie (hereditäre autonome, HSN) *


Gen-Set (<25 kb)
ATL1, NTRK1, SPTLC1, SPTLC2, ELP1, DNMT1, DNM2, RETREG1, SCN9A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AARS, ABCA1, ABCD1, ABHD12, AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ASAH1, ATL1, ATL3, ATP7A, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CACNA1A, CACNB4, CCT5, CHCHD10, COX10, COX6A1, CPT1C, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DDHD1, DDHD2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FUS, GAD1, GALC, GAN, GARS, GBA2, GCH1, GDAP1, GFAP, GJB1, GJB3, GJC2, GLB1, GNB4, GRID2, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IGHMBP2, INF2, KARS, KCNA1, KIF1A, KIF1B, KIF1C, KIF5A, KLHL13, L1CAM, LITAF, LMNA, LRSAM1, MAG, MARS, MARS2, MED25, MFN2, MICAL1, MPV17, MPZ, MTMR2, MTPAP, MYH14, NDRG1, NDUFAF5, NEFL, NGF, NIPA1, NT5C2, NTRK1, OPA1, OPA3, PANK2, PDK3, PDYN, PEX12, PLA2G6, PLEKHG5, PLP1, PMP22, PNPLA6, POLG, PRPS1, PRX, PSEN1, PSEN2, RAB7A, REEP1, REEP2, RETREG1, RTN2, SACS, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SETX, SH3BP4, SH3TC2, SIL1, SLC12A6, SLC16A2, SLC1A3, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTLC1, SPTLC2, SURF1, TARDBP, TDP1, TECPR2, TFG, TH, TRIM2, TRPV4, TTR, TUBB4A, UBA1, UBQLN2, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, WNK1, YARS, ZFYVE26, ZFYVE27

NEU-140: Neuropathie (hereditäre distale motorische, HMN) *


Gen-Set (<25 kb)
BSCL2, PLEKHG5, GARS, HSPB8, IGHMBP2, DCTN1, SETX

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
AARS, ABCA1, ABCD1, ABHD12, AFG3L2, AIFM1, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ASAH1, ATL1, ATL3, ATP7A, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CACNA1A, CACNB4, CCT5, CHCHD10, COX10, COX6A1, CPT1C, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DDHD1, DDHD2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FUS, GAD1, GALC, GAN, GARS, GBA2, GCH1, GDAP1, GFAP, GJB1, GJB3, GJC2, GLB1, GNB4, GRID2, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IGHMBP2, INF2, KARS, KCNA1, KIF1A, KIF1B, KIF1C, KIF5A, KLHL13, L1CAM, LITAF, LMNA, LRSAM1, MAG, MARS, MARS2, MED25, MFN2, MICAL1, MPV17, MPZ, MTMR2, MTPAP, MYH14, NDRG1, NDUFAF5, NEFL, NGF, NIPA1, NT5C2, NTRK1, OPA1, OPA3, PANK2, PDK3, PDYN, PEX12, PLA2G6, PLEKHG5, PLP1, PMP22, PNPLA6, POLG, PRPS1, PRX, PSEN1, PSEN2, RAB7A, REEP1, REEP2, RETREG1, RTN2, SACS, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SETX, SH3BP4, SH3TC2, SIL1, SLC12A6, SLC16A2, SLC1A3, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC5A7, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTLC1, SPTLC2, SURF1, TARDBP, TDP1, TECPR2, TFG, TH, TRIM2, TRPV4, TTR, TUBB4A, UBA1, UBQLN2, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, WNK1, YARS, ZFYVE26, ZFYVE27

NEU-150: Hereditäre Spastische Paraplegie (HSP, SPG) *

NEU-160: Parkinson, ED 50a *

NEU-170: Dystonien *


Gen-Set (<25 kb)
ATP1A3, ATP13A2, GCH1, PNKD, PRRT2, SLC2A1, SGCE, TAF1, TH, THAP1, TOR1A

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ADAR, ADCY5, ANO3, ARSA, ARX, ATM, ATP13A2, ATP1A3, ATP7B, CIZ1, CLN3, FTL, GCDH, GCH1, GNAL, HEXA, HPCA, KCNMA1, KCTD17, MECP2, NPC1, NPC2, PANK2, PLA2G6, PNKD, PRKRA, PRRT2, SGCE, SLC19A3, SLC2A1, SPR, TAF1, TH, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A

OHR-010: Schwerhörigkeit (sensorineurale, Typ 1) *

OHR-011: Schwerhörigkeit (autosomal-dominant) *

OHR-012: Schwerhörigkeit (autosomal-rezessiv) *

OHR-013: Schwerhörigkeit (X-linked) *

OHR-020: Usher-Syndrom - ausgewählte Gene *

RAS-010: Noonan-Syndrom Stufe 1a  *


Gen-Set (<25 kb)
PTPN11

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

RAS-020: Noonan-Syndrom Stufe 1b  *


Gen-Set (<25 kb)
SOS1, RAF1, RIT1, KRAS, BRAF

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

RAS-030: RASopathien *


Gen-Set (<25 kb)
CBL, HRAS, LZTR1, MAP2K1, MAP2K2, NRAS, NF1, SHOC2, SOS2, SPRED1

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

SLT-010: Kleinwuchs *

SLT-020: Großwuchs *


Gen-Set (<25 kb)
CDKN1C, DIS3L2, DNMT3A, EZH2, GPC3, NFIX, NSD1, OFD1, SHANK3

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
CDKN1C, DIS3L2, DNMT3A, EZH2, FBN1, GPC3, NFIX, NSD1, MED12, OFD1, SHANK3, TGFBR1, TGFBR2

SLT-030: Skelettdysplasien *


Gen-Set (<25 kb)
COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, FGFR3, SLC26A2, SOX9, TRAPPC2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ALX1, ACP5, ADAMTSL2, AGPS, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5, ARHGAP31, ARSB, ARSE, ATP6V0A2, ATR, B3GALT6, B3GAT3, B4GALT7, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, BRCA2, CA2, CANT1, CASR, CCBE1, CC2D2A, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP63, CEP152, CEP290, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLX3, DMP1, DOCK6, DYM, DYNC2H1, EBP, EFNB1, EIF2AK3, ENPP1, EP300, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, CCNQ, FANCA, FANCB, FANCC, FANCD2, FANCF, FANCG, FANCI, FBLN1, FBXW4, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, FREM1, GALNS, GALNT3, GDF3, GDF5, GDF6, GJA1, GLB1, GLI3, GNAS, GNS, GNPAT, GORAB, GPC3, GPC4, GPC6, GREM1, GSC, GUSB, HDAC4, HOXA11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, ICK, IDUA, IDS, IFITM5, IFT122, IFT140, IFT43, IFT80, IHH, IL11RA, IMPAD1, IRX5, JAG1, KRAS, KIF22, KIF7, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LRP4, LRP5, MAFB, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MSX2, MTAP, MYCN, MYH3, NAGLU, NEK1, NKX3-2, NOG, NOTCH1, NOTCH2, NPR2, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, PAPSS2, PCNT, PDE4D, PEX7, PHEX, PIGV, PITX1, PLEKHM1, PLOD2, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PTH1R, PTHLH, PYCR1, RAB23, RBBP8, RBM8A, RECQL4, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SCARF2, SERPINF1, SERPINH1, SF3B4, SGSH, SH3PXD2B, SHH, SHOX, SKI, SLC26A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SMARCAL1, SNX10, SOST, SOX9, SP7, SPECC1L, STAT3, SULF1, TBCE, TBX3, TBX15, TBX5, TBXAS1, TCIRG1, TCOF1, TGFB1, THPO, TMEM216, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, WDR19, WDR35, WISP3, WNT10B, WNT3, WNT5A, WNT7A, XYLT1, ZIC1, ZMPSTE24

SLT-040: Kraniosynostose *


Gen-Set (<25 kb)
ALX1, ALX3, ALX4, BMP4, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3, RAB23, RUNX2, SKI, WDR35

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ALX1, ALX3, ALX4, BMP4, CCBE1, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3, FREM1, IFT43, IFT122, IL11RA, IMPAD1, IRX5, MSX2, MYH3, POR, RAB23, RECQL4, RUNX2, SCARF2, SKI, SPECC1L, STAT3, TWIST1, WDR19, WDR35, ZIC1

SLT-050: Arthrogryposis *

SWS-010: Glykogenspeichererkrankungen *

SWS-020: Fettsäureoxidationsstörungen *

SWS-030: MODY-Diabetes *

TMR-010: Familiärer Brust- und Eierstockkrebs Stufe 1a *


Gen-Set (<25 kb)
BRCA1, BRCA2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABRAXAS1, ATM, BARD1, BLM, BRIP1, CDH1, MLH1, MSH2, MSH6, MRE11, MEN1, MUTYH, NBN, PMS2, PTEN, RAD50, RAD51D, STK11, TP53, XRCC2

TMR-020: Familiärer Brust- und Eierstockkrebs Stufe 1b *


Gen-Set (<25 kb)
BRCA1, BRCA2, CHEK2, PALB2, RAD51C

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABRAXAS1, ATM, BARD1, BLM, BRIP1, CDH1, MLH1, MSH2, MSH6, MRE11, MEN1, MUTYH, NBN, PMS2, PTEN, RAD50, RAD51D, STK11, TP53, XRCC2

TMR-030: Familiärer Brust- und Eierstockkrebs Stufe 2 *


Gen-Set (<25 kb)

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABRAXAS1, ATM, BARD1, BLM, BRIP1, CDH1, MLH1, MSH2, MSH6, MRE11, MEN1, MUTYH, NBN, PMS2, PTEN, RAD50, RAD51D, STK11, TP53, XRCC2

TMR-040: Fanconi-Anämie *


Gen-Set (<25 kb)
FANCA, FANCC, FANCG, BRCA2, FANCD2, FANCE, FANCB

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABRAXAS1, ATM, APC, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51, RAD51C, RAD51D, SLX4, STK11, TP53, XRCC2

TMR-050: Hereditäres nicht-polypöses Kolonkarzinom (HNPCC) *


Gen-Set (<25 kb)
MLH1, MSH2, MSH6, PMS2

Komplettes Genpanel (>25 kb, genehmigungspflichtig oder Selbstzahler)
ABRAXAS1, ATM, APC, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51, RAD51C, RAD51D, SLX4, STK11, TP53, XRCC2



* = derzeit nicht akkreditierte Untersuchungen | CO = in Kooperation

Material - Dauer - Kosten

Für die Multi-Gen-Panel-Analyse benötigen wir 2-3 ml EDTA Blut oder DNA.

Die Dauer einer Multi-Gen-Panel-Analyse benötigt in der Regel ca. 6 bis 8 Wochen. Hierzu stehen wir Ihnen für Rückfragen jederzeit gerne zur Verfügung.

Multi-Gen-Panel-Analysen bis 25 Kilobasen sind auf Überweisungsschein (Muster 10) beauftragbar. Untersuchungen größer 25 Kilobasen unterliegen der Genehmigungspflicht durch die Krankenkassen (die Antragstellung kann durch das genetikum erfolgen).
Es besteht ebenfalls die Möglichkeit individuelle Gen-Panels zusammenzusetzen. Hierfür nehmen Sie bitte Kontakt zu uns auf.

Humangenetische Leistungen sind Kassenleistungen und berühren nicht das Laborbudget