Multigen-Diagnostik

Panel-Nummer: ID047.04

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 ID047.04

Epileptische Enzephalopathien, umfassende Diagnostik: 163 Gene (371,9 kb)

AARS1, ABAT, ACTL6B, ADAM22, ADAR*, ADSL, ALDH5A1, ALDH7A1*, ALG13, AMT*, AP3B2, ARHGEF9, ARV1, ARX*,**, ASNS, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, BSCL2*, BTD*, CACNA1A*,**, CACNA1E, CAD, CCDC88A, CDK19, CDKL5*,**, CELF2, CHD2, CLCN4, CNPY3, CPLX1, CNTNAP2*, CUX2, CYFIP2, D2HGDH, DALRD3, DENND5A, DNM1, DNM1L, DMXL2, DOCK7, EEF1A2, ETHE1, FGF12, FGF13, FOLR1, FOXG1*,**, FBXO28, FRRS1L, GABBR2, GABRA1*, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GAMT*, GCSH*, GLDC*,**, GLS, GNAO1, GOT2, GPHN, GRIN1, GRIN2B*,**, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IDH2, IFIH1*, ITPA, KCNA2, KCNB1, KCNC2, KCNQ2*,**, KCNT1*, KCNT2, LIAS, MECP2*,**, MEF2C*,**, MDH1, MDH2, MFF, MOCS1, MOCS2, MTHFR, NAXD, NAXE, NECAP1, NEUROD2, NRXN1*,**, NSF, NTRK2, PACS2, PARS2, PC, PCDH19*,**, PHACTR1, PHGDH, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PNKP*, PNPO*, POLG*,**, PPP3CA, PURA, RHOBTB2, RNASEH2A*,**, RNASEH2B*,**, RNASEH2C*,**, RNF13, ROGDI*, SAMHD1, SCN1A*,**, SCN1B*, SCN2A*, SCN3A, SCN8A, SERPINI1, SIK1, SLC1A2, SLC2A1*,**, SLC12A5, SLC13A5, SLC6A8*,**, SLC6A9, SLC9A6, SLC19A3, SLC25A1, SLC25A12, SLC25A22*, SLC35A2, SLC38A3, SMC1A*, SPTAN1*, ST3GAL3, STXBP1*,**, SYNGAP1*, SYNJ1, SZT2, TBC1D24*, TBCD*, TBCE, TCF4*,**, TPK1, TRAK1, TREX1*,**, UBA5, UGDH, UGP2, WDR45, WWOX**, YWHAG

Entwicklungsbedingte und 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

Metabolische Enzephalopathie mit Epilepsie: 29 Gene (44,8 kb)

ABAT, ADSL, ALDH5A1, ALDH7A1*, AMT*, BTD*, D2HGDH, FOLR1, GAMT*, GCSH*, GLDC*, GPHN, IDH2, LIAS, MDH2, MOCS1, MOCS2, MTHFR, PC, PHGDH, PNPO*, POLG*^,**, SLC1A2, SLC2A1*^,**, SLC6A8*^,**, SLC6A9, SLC19A3, SLC25A1, TPK1*

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

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen