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EFHC1

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 608815

Gen-Panel-Analysen, die EFHC1 enthalten

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
Hirnfehlbildungen / neuronale Migrationsstörungen - Gesamtpanel ID 144.04 | >25kb

Gen Panel (270 Gene )

RPL10
RPS6KA3
SGCE
SGSH
SHH
STIL
SIX3
SLC16A2
SLC2A1
SLC9A6
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMS
SOX3
SPTAN1
CDKL5
STUB1
STXBP1
SYN1
SYNGAP1
SYNJ1
SYP
TDGF1
TGIF1
TSPAN7
MED12
TREX1
TSC1
TSC2
TUBA8
TUBB2A
TUBG1
VLDLR
VRK1
ZIC2
ZNF711
ZNF81
ACTB
FTSJ1
HDAC8
NSDHL
PCLO
CNTNAP2
CACNA1H
CACNB4
NSD1
PCDH19
NLGN4X
NLGN3
ACTG1
ZEB2
CASK
CASR
MBTPS2
TSEN34
JAM3
CCND2
ARFGEF2
PANK2
PLCB1
SAMHD1
TOE1
EFHC1
RAB39B
SCARB2
CLP1
PRICKLE1
MLC1
CDON
CENPJ
BRWD3
NDE1
PORCN
CDK5
EXOSC3
ARID1B
ARX
PHF6
ATP6AP2
CECR1
DEPDC5
ZDHHC9
RNASEH2A
CDK5RAP2
NAA10
KCNT1
IFIH1
ASPM
THOC2
VPS13A
CHD2
CHRNA2
CHRNA4
CHRNB2
DISP1
SLC25A22
FLVCR2
CHD8
CLCN4
PRICKLE2
ZDHHC15
UPF3B
MBD5
PHF8
TPP1
CLN3
CLN5
TUBA1A
CLN6
TUBB3
TUBB4A
TUBB
TBC1D7
RNF135
RMND1
FA2H
RARS2
NHLRC1
RNASET2
KCTD7
COL4A1
COL4A2
ADAR
CP
KIF1BP
RNASEH2C
WDR62
SMC3
CSTB
RAB40AL
C19orf12
CUL4B
TBC1D23
OFD1
RNASEH2B
DCAF17
CYP27A1
CTC1
HEPACAM
PTCHD1
HGSNAT
DOK7
DARS
DCX
TSEN54
TSEN2
DIS3L2
NIPBL
MAGT1
DKC1
WDR45
DLG3
SZT2
IQSEC2
DLL1
TBC1D24
SHROOM4
CEP152
KIAA2022
GPSM2
POLR3A
ATP13A2
PNPO
POLR3B
KIF7
PRRT2
SEPSECS
SRPX2
TUBB2B
HUWE1
DYRK1A
EEF1A2
EIF2B3
EIF2B5
EIF2S3
EMX2
EPM2A
EZH2
FGD1
FGF8
FGFR3
FLNA
AFF2
FOXG1
FOXH1
AKT1
AKT3
MTOR
FTL
GABRA1
GABRD
GABRG2
GALC
GAMT
GDI1
GK
GLDC
GLI2
GLI3
GNAQ
GOSR2
GPC3
ADGRG1
GRIA3
GRIN2A
AMPD2
HSD17B10
HCFC1
HCN1
HERC2
HNRNPDL
HPRT1
IDS
IGBP1
AP1S2
IKBKAP
IL1RAPL1
ITM2B
KATNB1
KCNH5
KCNQ2
KCNQ3
KIF2A
KIF5C
KPTN
L1CAM
LAMB1
LGI1
MAOA
ARHGEF6
MCPH1
MECP2
MEF2C
MID1
ASAH1
MYBPC1
ASPA
NEDD4L
NEU1
NFIX
NODAL
NOL3
NOTCH3
NRXN1
OCLN
OPHN1
PAFAH1B1
PAK3
CHMP1A
ALDH7A1
PGK1
PHGDH
PIK3CA
PIK3R2
PLA2G6
PNKP
PPT1
PQBP1
HTRA1
PTCH1
PTEN
QARS
RAD21
RBM10
RELN

Einzelgenanalyse

Assoziierte Erkrankung(en)