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SCN1A

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 182389

Gen-Panel-Analysen, die SCN1A enthalten

Ataxie – Manifestation im Erwachsenenalter (ohne Repeat-assoziierte Ataxieformen) ID 936.00 | >25kb

Gen Panel (153 Gene )

SACS
SCN1A
SCN8A
SLC1A3
SLC2A1
SLC9A6
SPG7
SPR
SPTBN2
SQSTM1
STUB1
SYNGAP1
BRF1
C10orf2
TERT
NKX2-1
TTPA
VLDLR
WFS1
WWOX
ROBO3
SAMD9L
AAAS
CA8
CACNA1A
CACNA1G
IRF2BPL
ELOVL4
NPC2
CAPN1
COG5
PUM1
CASK
SNX14
ABHD12
TOE1
APTX
DNAJC5
PNPLA6
ADCK3
MFN2
EXOSC8
SYNE1
GJC2
EXOSC3
PMPCA
CAMTA1
GBA2
TTBK2
NKX6-2
CLCN2
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
SLC39A8
RARS2
NHLRC1
RNF216
CP
UBA5
VPS13D
ADCY5
PACS2
PTRH2
MMACHC
SIL1
FLVCR1
CSTB
MARS2
TMEM240
SLC25A46
RNF170
ANO10
DARS2
VPS53
CWF19L1
COA7
SRD5A3
WDR73
CYP27A1
WDR81
COX20
TSEN54
TSEN2
B3GALNT2
DDHD2
MSTO1
DNMT1
COASY
POLR3A
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
AFG3L2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EPM2A
ERCC4
FGF14
FOLR1
FXN
GFAP
GLRA1
GLRB
GOSR2
GPAA1
SETX
GRID2
GRM1
HEXA
HEXB
ITPR1
KCNA1
KCNA2
KCNC3
KCND3
KCNJ10
KCNQ2
KIF1C
ARSA
MRE11A
MT-ATP6
MTTP
ATCAY
NPC1
ATM
ATP1A2
ATP1A3
OPA1
OPA3
OPHN1
ATP7B
PEX16
PEX6
AUH
PLA2G6
PMPCB
EXOSC9
PNKD
PNKP
POLG
PRKCG
PRNP
Bewegungsstörungen - Gesamtpanel ID 233.03 | >25kb

Gen Panel (335 Gene )

RTN2
SACS
SCN1A
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
SLC9A6
KDM5C
SNAP25
SNCA
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
SQSTM1
STUB1
SUCLA2
SYNGAP1
SYT1
TAF1
BRF1
TBCD
C10orf2
TERT
TFG
TH
NKX2-1
TTPA
TTR
UBQLN2
UBTF
UCHL1
USP8
VAMP1
VCP
VLDLR
VRK1
WFS1
WWOX
XK
XRCC1
ROBO3
VPS35
SAMD9L
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1G
CACNA2D2
ANO3
CACNB4
IRF2BPL
ELOVL4
NPC2
PINK1
CAPN1
COG5
PUM1
CASK
SNX14
BSCL2
KMT2B
ABHD12
PANK2
NOP56
TOE1
APTX
CCT5
SLC52A3
DNAJC5
TGM6
PNPLA6
PARK7
NLRP3
CIZ1
ADCK3
MFN2
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
SPG20
CPT1C
LRRK2
PMPCA
CAMTA1
IFIH1
GBA2
ADCK4
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
CLN8
THAP1
SLC39A14
SLC39A8
FA2H
PDHX
RARS2
NHLRC1
KLC4
RNF216
COL6A3
AP5Z1
COQ7
ADAR
CP
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13D
ADCY5
PACS2
PTRH2
TACO1
CSF1R
MMACHC
SIL1
FLVCR1
CSTB
VPS37A
MARS2
TMEM240
SLC25A46
COQ2
COQ9
SLC30A10
RNF170
C19orf12
VAC14
ANO10
MTPAP
DARS2
VPS53
CWF19L1
RNASEH2B
KCTD17
PGAP1
COA7
REEP1
SRD5A3
WDR73
FAM134B
TTC19
CYP27A1
CYP7B1
ZFYVE27
WDR81
C12orf65
COX20
DBT
IBA57
TSEN54
SLC6A19
TSEN2
B3GALNT2
DNAJC12
DLAT
KIAA0196
RUBCN
ABCA1
DDHD2
TOR1AIP1
MSTO1
DNM2
DNMT1
COASY
PIK3R5
POLR3A
ATP13A2
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
TOR1A
AFG3L2
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ENTPD1
EPM2A
ERCC4
ETFA
ETFB
ETFDH
FGF14
FMR1
FOLR1
FXN
FTL
GAD1
GALC
B4GALNT1
GAN
GBA
GBE1
GCDH
GCH1
GFAP
GLRA1
GLRB
GNAL
GNAO1
GNB1
ALS2
GOSR2
GPAA1
SETX
AMACR
GPR88
GRID2
GRM1
AMPD2
ABCB7
HEXA
HEXB
HPCA
HSD17B4
HSPD1
AP1S2
AP4B1
AP4E1
AP4M1
AP4S1
APOB
ABCD1
ITPR1
IVD
KCNA1
KCNA2
KCNA4
KCNC3
KCND3
KCNJ10
KCNMA1
KCNQ2
KIF1C
KIF5A
L1CAM
ARG1
MAG
MARS
ARL6IP1
ARSA
MRE11A
MT-ATP6
MTHFR
ASL
MTTP
ASS1
ATCAY
NPC1
ATM
ATP1A2
ATP1A3
NT5C2
OPA1
OPA3
OPHN1
OTC
PARK2
PAX6
ATP7B
CHMP1A
PDE2A
PDE8B
PDHA1
PDYN
PEX16
PEX6
PEX7
KIF1A
AUH
PHYH
PLA2G6
PLP1
PMPCB
EXOSC9
PNKD
PNKP
PODXL
POLG
PPP2R2B
PRKCG
PRKRA
PRNP
SLC33A1
ALDH18A1
BCKDHA
BCKDHB
RELN
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb

Gen Panel (462 Gene )

BCS1L
RYR1
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC17A5
SLC19A2
SLC1A4
SLC20A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A1
SLC6A8
SIK1
SOX10
SPG7
SPTAN1
STAT2
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TALDO1
TAZ
TBCD
TBCE
C10orf2
ACO2
TIMM8A
TK2
ACOX1
TREX1
TSFM
TUBB2A
TUFM
UBE3A
UBTF
UQCRB
UQCRC2
WFS1
XRCC4
MCOLN1
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CAD
PCDH19
SLC25A19
MRPS7
ACTG2
MRPS22
NPC2
ARHGEF9
VPS11
GTPBP3
CASR
MICU1
GPHN
PUS1
CHCHD10
NBAS
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
SAMHD1
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
SCARB2
MRPL44
MCEE
ADCK3
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
SPATA5
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
ADCK4
CHAT
PSAT1
CHD2
DOCK7
MTO1
NKX6-2
MMAB
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
SLC25A22
CHD8
POLR1C
CLCN4
COQ6
NUBPL
TRIT1
PRICKLE2
NDUFA11
NDUFB11
SUMF1
MBD5
APOPT1
L2HGDH
SLC25A26
TPP1
CLN3
CLN5
CLN6
TUBB3
TUBB4A
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
NHLRC1
VARS2
RNASET2
AGK
KCTD7
COL4A1
COL4A2
COLQ
COQ7
ADAR
COX10
COX15
COX6B1
GMPPB
COX8A
CP
PEX26
PDSS2
SLC13A5
TRMT5
UNC13A
ALG2
PNPT1
CPT1A
ETHE1
CPT2
VPS13D
NDUFA12
RNASEH2C
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
MMACHC
FAM126A
FLAD1
CSTB
NPRL2
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
VAC14
ANO10
MTPAP
DARS2
RNASEH2B
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
NARS2
HEPACAM
NADK2
DOK7
C12orf65
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
WDR45
EMC1
DLAT
DLD
SZT2
FASTKD2
TBC1D24
EPG5
DNA2
EARS2
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PREPL
PNPO
PYCR2
POLR3B
PRRT2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GALC
GAMT
GARS
GBE1
GCDH
GFAP
GFER
GFPT1
GJA1
GLDC
GLUD1
GM2A
GNAO1
GNB1
GOSR2
AMACR
GPR88
GRIK2
GRIN2A
GRIN2D
HADH
ABCB7
HARS2
HCFC1
HCN1
HEXA
HEXB
HIBCH
HNRNPDL
HNRNPU
HSD17B4
HSPD1
ABCD1
KARS
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11A
ASAH1
MTHFR
MTM1
MUSK
MUT
MYBPC1
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEDD4L
NEU1
NOL3
NPC1
ATP1A2
ATP1A3
OPA1
OPA3
ATP5A1
ATP5E
OTC
PABPN1
PC
PCCA
PCCB
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ACADM
AUH
PHGDH
ACADS
PLA2G6
PLP1
PNKP
POLG
POLG2
ACADVL
PDP1
PPT1
DNAJC3
LONP1
PSAP
SLC33A1
PURA
PEX19
PEX2
PEX5
QARS
RANBP2
RAPSN
RARS
RELN
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb

Gen Panel (462 Gene )

BCS1L
RYR1
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC17A5
SLC19A2
SLC1A4
SLC20A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A1
SLC6A8
SIK1
SOX10
SPG7
SPTAN1
STAT2
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TALDO1
TAZ
TBCD
TBCE
C10orf2
ACO2
TIMM8A
TK2
ACOX1
TREX1
TSFM
TUBB2A
TUFM
UBE3A
UBTF
UQCRB
UQCRC2
WFS1
XRCC4
MCOLN1
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CAD
PCDH19
SLC25A19
MRPS7
ACTG2
MRPS22
NPC2
ARHGEF9
VPS11
GTPBP3
CASR
MICU1
GPHN
PUS1
CHCHD10
NBAS
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
SAMHD1
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
SCARB2
MRPL44
MCEE
ADCK3
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
SPATA5
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
ADCK4
CHAT
PSAT1
CHD2
DOCK7
MTO1
NKX6-2
MMAB
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
SLC25A22
CHD8
POLR1C
CLCN4
COQ6
NUBPL
TRIT1
PRICKLE2
NDUFA11
NDUFB11
SUMF1
MBD5
APOPT1
L2HGDH
SLC25A26
TPP1
CLN3
CLN5
CLN6
TUBB3
TUBB4A
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
NHLRC1
VARS2
RNASET2
AGK
KCTD7
COL4A1
COL4A2
COLQ
COQ7
ADAR
COX10
COX15
COX6B1
GMPPB
COX8A
CP
PEX26
PDSS2
SLC13A5
TRMT5
UNC13A
ALG2
PNPT1
CPT1A
ETHE1
CPT2
VPS13D
NDUFA12
RNASEH2C
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
MMACHC
FAM126A
FLAD1
CSTB
NPRL2
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
VAC14
ANO10
MTPAP
DARS2
RNASEH2B
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
NARS2
HEPACAM
NADK2
DOK7
C12orf65
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
WDR45
EMC1
DLAT
DLD
SZT2
FASTKD2
TBC1D24
EPG5
DNA2
EARS2
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PREPL
PNPO
PYCR2
POLR3B
PRRT2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GALC
GAMT
GARS
GBE1
GCDH
GFAP
GFER
GFPT1
GJA1
GLDC
GLUD1
GM2A
GNAO1
GNB1
GOSR2
AMACR
GPR88
GRIK2
GRIN2A
GRIN2D
HADH
ABCB7
HARS2
HCFC1
HCN1
HEXA
HEXB
HIBCH
HNRNPDL
HNRNPU
HSD17B4
HSPD1
ABCD1
KARS
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11A
ASAH1
MTHFR
MTM1
MUSK
MUT
MYBPC1
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEDD4L
NEU1
NOL3
NPC1
ATP1A2
ATP1A3
OPA1
OPA3
ATP5A1
ATP5E
OTC
PABPN1
PC
PCCA
PCCB
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ACADM
AUH
PHGDH
ACADS
PLA2G6
PLP1
PNKP
POLG
POLG2
ACADVL
PDP1
PPT1
DNAJC3
LONP1
PSAP
SLC33A1
PURA
PEX19
PEX2
PEX5
QARS
RANBP2
RAPSN
RARS
RELN

Einzelgenanalyse

Assoziierte Erkrankung(en)