Multigen-Diagnostik

Panel-Nummer: ID061.05

Gene (163)

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel ID061.05

Epilepsien, umfassende Diagnostik: 163 Gene (388,9 kb)

AARS1, ACTL6B, ADAM22, ALDH7A1*, ALG13, AP3B2, ARHGEF9, ARV1, ARX*^,**, ASAH1, ATP1A2*^,**, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, CACNA1A*^,**, CACNA1E, CACNB4*, CAD, CASR*, CDK19, CDKL5*^,**, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2*, CLN8, CNPY3, CNTN2, CNTNAP2*, CPA6*, CPLX1, CSTB, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5*, DMXL2, DNM1, DOCK7, EEF1A2, EFHC1, EPM2A, FBXO28, FGF12, FGF13, FRRS1L, GABBR2, GABRA1*, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD*, GABRG2*, GAD1, GAL, GLS, GNAO1, GOT2, GOSR2, GRIN1, GRIN2A*^,**, GRIN2B*^,**, GRIN2D, GUF1, HCN1, HCN2, HID1, HNRNPU, ITPA, KCNA2, KCNB1, KCNC1, KCNC2, KCNMA1, KCNQ2*^,**, KCNQ3*, KCNT1*, KCNT2, KCTD7, LGI1, LMNB2, MDH1, MDH2, MECP2*^,**, MEF2C*^,**, MTOR, NECAP1, NEUROD2, NHLRC1, NPRL2, NPRL3*, NSF, NTRK2, PACS2, PARS2, PCDH19*^,**, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PNKP*, PNPO*, POLG*^,**, PLPBP*, PPP3CA, PRDM8, PRICKLE1, PRRT2, RELN, RHOBTB2, RNF13, ROGDI*, RORA, RORB, SCARB2, SCN1A*^,**, SCN1B*, SCN2A*, SCN3A, SCN8A, SEMA6B, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22*, SLC2A1*^,**, SLC35A2, SLC38A3, SLC6A1, SLC7A6OS, SMC1A, SNIP1, SPTAN1*, SRPX2, ST3GAL3, ST3GAL5, STX1B*, STXBP1*^,**, SYN1, SYNGAP1*, SYNJ1, SZT2, TBC1D24*, TCF4, TRAK1, UBA5, UGDH, UGP2, WWOX**, YWHAG

Fokale Epilepsien: 17 Gene (50,9 kb)

CHRNA2, CHRNA4, CHRNB2, CNTNAP2*, CPA6*, DEPDC5*, GAL, GRIN2A*, KCNT1*, LGI1, NPRL2, NPRL3*, PCDH19*^,**, RELN, SCN3A, SRPX2, TBC1D24*

Generalisierte Epilepsien: 39 Gene (72,6 kb)

ALDH7A1*, ASAH1, CACNB4*, CASR*, CERS1, CILK1, CLCN2*, CLN8, CNTN2, CSTB, EFHC1, EPM2A, GABRA1*, GABRB3, GABRD*, GABRG2*, GOSR2, HCN1, HCN2, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PLPBP*, POLG*^,**, PRDM8, PRICKLE1,  RORB, SCARB2, SCN1A*^,**, SCN1B*, SEMA6B, SLC2A1*^,**, SLC6A1, SLC7A6OS, SLC12A5, STX1B, TBC1D24*

Myoklonusepilepsie (EJM, EPM): 24 Gene (45,3 kb)

ASAH1, CERS1, CILK1, CLCN2*, CNTN2, CSTB, CACNB4*, EFHC1, EPM2A, GABRA1*, GABRD*, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, POLG*^,**, PRDM8, PRICKLE1,  SCARB2, SCN1A*^,**, SEMA6B, SLC7A6OS, TBC1D24*

Absence-Epilepsie (EJA, ECA): 10 Gene (21,8 kb)

CASR*, CLCN2*, EFHC1, GABRA1*, GABRB3, GABRG2*, KCNMA1, RORB, SLC2A1*^,**, SLC12A5

Epileptische Enzephalopathie (DEE, EIEE): 105 Gene (268,3 kb)

AARS1, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX*^,**, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, CACNA1A*^,**, CACNA1E, CAD, CDK19, CDKL5*^,**, CELF2, CHD2, CNPY3, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DMXL2, DNM1, DOCK7, EEF1A2, FBXO28, FGF12, FGF13, FRRS1L, GABBR2, GABRA1*, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GLS, GNAO1, GOT2, GRIN1, GRIN2B*^,**, GRIN2D, GUF1, HCN1, HID1, HNRNPU, ITPA, KCNA2, KCNB1, KCNC2, KCNQ2*^,**, KCNT1*, KCNT2, MDH1, MDH2, NECAP1, NEUROD2, NSF, NTRK2, PACS2, PARS2, PCDH19*^,**, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PNKP*, PPP3CA, RHOBTB2, RNF13, SCN1A*^,**, SCN1B*, SCN2A*, SCN3A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22*, SLC35A2, SLC38A3, SMC1A, SPTAN1*, ST3GAL3, STXBP1*^,**, SYNJ1, SZT2, TBC1D24*, TRAK1, UBA5, UGDH, UGP2, WWOX**, YWHAG

^{* auch als Einzelgen-Diagnostik mittels Sanger-Sequezierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar}

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen