Epilepsien, umfassende Diagnostik : 257 Gene (549,8 kb)

panel : ID061.06

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Material Dauer Akkreditierung
3 - 5 ml EDTA-Blut 4 - 6 Wochen ja
Untersuchte Bereiche / Gene
AARS1
ABAT
ACTL6B
ACY1
ADAM22
ADSL
ALDH4A1
ALDH5A1
ALDH7A1
ALG13
AMT
ANO4
AP3B2
ARG1
ARHGEF9
ARV1
ARX
ASAH1
ATIC
ATP1A2
ATP1A3
ATP6V0A1
ATP6V0C
ATP6V1A
ATP7A
BAIAP2
BCKDHA
BCKDHB
BCKDK
BRAT1
BTD
CACNA1A
CACNA1E
CACNA2D1
CACNB4
CAD
CDK19
CDKL5
CELF2
CERS1
CHD2
CHRNA2
CHRNA4
CHRNB2
CILK1
CLCN2
CLN3
CLN5
CLN6
CLN8
CNNM2
CNPY3
CNTN2
CNTNAP2
CPA6
CPLX1
CPS1
CSTB
CTSD
CTSF
CUX2
CYFIP2
D2HGDH
DALRD3
DBT
DENND5A
DEPDC5
DHFR
DLD
DMXL2
DNAJC5
DNM1
DOCK7
DPYD
EEF1A2
EFHC1
EPM2A
ETFA
ETFB
ETFDH
ETHE1
FBXO28
FGF12
FGF13
FH
FOLR1
FRRS1L
FZR1
GABBR2
GABRA1
GABRA2
GABRA5
GABRB1
GABRB2
GABRB3
GABRD
GABRG2
GAD1
GAL
GAMT
GATM
GCDH
GCH1
GCSH
GLDC
GLS
GLUL
GM2A
GNAO1
GOSR2
GOT2
GPHN
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRN
GUF1
HCN1
HCN2
HCN4
HEXA
HEXB
HIBCH
HID1
HLCS
HNRNPU
IDH2
ITPA
IVD
KCNA2
KCNB1
KCNC1
KCNC2
KCNH5
KCNMA1
KCNQ2
KCNQ3
KCNT1
KCNT2
KCTD7
L2HGDH
LGI1
LIAS
LMNB2
MAST3
MDGA2
MDH1
MDH2
MECP2
MEF2C
MFSD8
MOCS1
MOCS2
MTHFR
MTOR
NAPB
NECAP1
NEU1
NEUROD2
NHLRC1
NPRL2
NPRL3
NSF
NTRK2
OTC
PACS2
PAH
PARS2
PC
PCBD1
PCCA
PCCB
PCDH19
PGK1
PHACTR1
PHGDH
PIGA
PIGB
PIGP
PIGQ
PIGS
PLCB1
PLPBP
PNKP
PNPO
POLG
PPM1K
PPP3CA
PPT1
PRDM8
PRICKLE1
PRODH
PRRT2
PTS
QDPR
RELN
RHOBTB2
RNF13
ROGDI
RORA
RORB
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SEMA6B
SETD1A
SIK1
SLC1A2
SLC2A1
SLC6A1
SLC6A8
SLC6A9
SLC7A6OS
SLC12A5
SLC13A5
SLC19A3
SLC25A1
SLC25A12
SLC25A22
SLC32A1
SLC35A2
SLC38A3
SLC46A1
SMC1A
SNAP25
SNF8
SNIP1
SPTAN1
SRPX2
ST3GAL3
ST3GAL5
STX1B
STXBP1
SUOX
SV2A
SYN1
SYNGAP1
SYNJ1
SZT2
TBC1D24
TCF4
TMEM63B
TPK1
TPP1
TRAK1
UBA5
UFSP2
UGDH
UGP2
USP25
WWOX
YWHAG
ZFHX3
Methodik
Mittels Short-Read Next-Generation-Sequencing (SR-NGS) werden die o. g. Gene parallel analysiert. Als Bestätigung des NGS-Ergebnisses wird für krankheitsauslösende SNV-Varianten (Small nucleotide variants) eine Sanger-Sequenzierung durchgeführt, sofern die internen NGS-Qualitätskriterien nicht erfüllt sind. Kopienzahl-Varianten (CNVs), d. h. größere Deletionen und Duplikationen, werden ggf. mittels MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) oder SNP-Array Analyse bestätigt.
Gen-Panel
Epilepsien, umfassende Diagnostik: ID061.06, 257 Gene
AARS1, ABAT, ACTL6B, ACY1, ADAM22, ADSL, ALDH4A1, ALDH5A1, ALDH7A1, ALG13, AMT, ANO4, AP3B2, ARG1, ARHGEF9, ARV1, ARX, ASAH1, ATIC, ATP1A2, ATP1A3, ATP6V0A1, ATP6V0C, ATP6V1A, ATP7A, BAIAP2, BCKDHA, BCKDHB, BCKDK, BRAT1, BTD, CACNA1A, CACNA1E, CACNA2D1, CACNB4, CAD, CDK19, CDKL5, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNPY3, CNTN2, CNTNAP2, CPA6, CPLX1, CPS1, CSTB, CTSD, CTSF, CUX2, CYFIP2, D2HGDH, DALRD3, DBT, DENND5A, DEPDC5, DHFR, DLD, DMXL2, DNAJC5, DNM1, DOCK7, DPYD, EEF1A2, EFHC1, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FBXO28, FGF12, FGF13, FH, FOLR1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GAMT, GATM, GCDH, GCH1, GCSH, GLDC, GLS, GLUL, GM2A, GNAO1, GOSR2, GOT2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HCN2, HCN4, HEXA, HEXB, HIBCH, HID1, HLCS, HNRNPU, IDH2, ITPA, IVD, KCNA2, KCNB1, KCNC1, KCNC2, KCNH5, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, L2HGDH, LGI1, LIAS, LMNB2, MAST3, MDGA2, MDH1, MDH2, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTHFR, MTOR, NAPB, NECAP1, NEU1, NEUROD2, NHLRC1, NPRL2, NPRL3, NSF, NTRK2, OTC, PACS2, PAH, PARS2, PC, PCBD1, PCCA, PCCB, PCDH19, PGK1, PHACTR1, PHGDH, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PLPBP, PNKP, PNPO, POLG, PPM1K, PPP3CA, PPT1, PRDM8, PRICKLE1, PRODH, PRRT2, PTS, QDPR, RELN, RHOBTB2, RNF13, ROGDI, RORA, RORB, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SEMA6B, SETD1A, SIK1, SLC1A2, SLC2A1, SLC6A1, SLC6A8, SLC6A9, SLC7A6OS, SLC12A5, SLC13A5, SLC19A3, SLC25A1, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC38A3, SLC46A1, SMC1A, SNAP25, SNF8, SNIP1, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUOX, SV2A, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TMEM63B, TPK1, TPP1, TRAK1, UBA5, UFSP2, UGDH, UGP2, USP25, WWOX, YWHAG, ZFHX3
Inkludierte Phänotypen
Fokale Epilepsien: 18 Gene
ANO4, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, CPA6, DEPDC5, GAL, GRIN2A, KCNT1, LGI1, NPRL2, NPRL3, PCDH19, RELN, SCN3A, SRPX2, TBC1D24
Generalisierte Epilepsien: 46 Gene
ALDH7A1, ANO4, ASAH1, ATP6V0C, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN8, CNTN2, CSTB, EFHC1, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GOSR2, HCN1, HCN2, HCN4, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PLPBP, POLG, PRDM8, PRICKLE1, RORB, SCARB2, SCN1A, SCN1B, SEMA6B, SETD1A, SLC2A1, SLC6A1, SLC7A6OS, SLC12A5, SLC32A1, STX1B, TBC1D24, USP25, ZFHX3
Metabische Epilepsien: 84 Gene
ABAT, ACY1, ADSL, ALDH4A1, ALDH5A1, ALDH7A1, AMT, ARG1, ATIC, ATP7A, BCKDHA, BCKDHB, BCKDK, BTD, CLN3, CLN5, CLN6, CLN8, CNNM2, CPS1, CTSD, CTSF, D2HGDH, DBT, DHFR, DLD, DNAJC5, DPYD, ETFA, ETFB, ETFDH, ETHE1, FH, FOLR1, GAMT, GATM, GCDH, GCH1, GCSH, GLDC, GLUL, GM2A, GPHN, GRN, HEXA, HEXB, HIBCH, HLCS, IDH2, IVD, KCTD7, L2HGDH, LIAS, MDH2, MFSD8, MOCS1, MOCS2, MTHFR, NEU1, OTC, PAH, PC, PCBD1, PCCA, PCCB, PGK1, PHGDH, PLPBP, PNPO, POLG, PPM1K, PPT1, PRODH, PTS, QDPR, SLC2A1, SLC6A8, SLC6A9, SLC19A3, SLC25A1, SLC46A1, SUOX, TPK1, TPP1
Epileptische Enzephalopathien: 121 Gene
AARS1, ACTL6B, ADAM22, ALG13, ANO4, AP3B2, ARHGEF9, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BAIAP2, CACNA1A, CACNA1E, CACNA2D1, CAD, CDK19, CDKL5, CELF2, CHD2, CNPY3, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DMXL2, DNM1, DOCK7, EEF1A2, FBXO28, FGF12, FGF13, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GLS, GLUL, GNAO1, GOT2, GRIN1, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, ITPA, KCNA2, KCNB1, KCNC2, KCNH5, KCNQ2, KCNT1, KCNT2, LGI1, MAST3, MDGA2, 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, SLC1A2, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC38A3, SMC1A, SNAP25, SNF8, SPTAN1, ST3GAL3, STXBP1, SV2A, SYNJ1, SZT2, TBC1D24, TMEM63B, TRAK1, UBA5, UFSP2, UGDH, UGP2, WWOX, YWHAG
HPO Terms
Seizure, Generalized seizure, Focal seizure, Infantile spasm, Myoclonic seizure, Status epilepticus, Seizure semiology, Seizure cluster, Developmental delay, Intellectual disability, Abnormal electroencephalogram, Abnormal brain imaging, Brain atrophy, Metabolic abnormality, Refractory seizures, Seizure onset in infancy, Neurodevelopmental disorder, Neurological abnormality, Genetic epilepsy, Abnormal MRI
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant. Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
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