Gen-Panel-Diagnostik

Letzte Aktualisierung am 30.09.2019

Name

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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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)
ARSA, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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, 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, 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, QARS1, RAB39B, RAI1, RBFOX1, RBFOX3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERAC1, SERPINI1, SGCE, 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



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