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TOR1A

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 605204

Gen-Panel-Analysen, die TOR1A enthalten

Bewegungsstörungen - Gesamtpanel ID 233.04 | >25kb

Gen Panel (363 Gene )

RTN2
SACS
SCN1A
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
SLC9A6
KDM5C
SNAP25
SNCA
SOD1
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
SQSTM1
STUB1
STXBP1
SUCLA2
SYNGAP1
SYNJ1
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
SLC2A10
VPS35
SAMD9L
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1G
CACNA2D2
ANO3
SLC5A7
CACNB4
IRF2BPL
ELOVL4
NPC2
WNK1
PINK1
CAPN1
COG5
PUM1
CASK
SNX14
DNAJC6
CHCHD10
BSCL2
KMT2B
ABHD12
PANK2
NOP56
PLCB1
TOE1
APTX
CCT5
SLC52A3
DNAJC5
TGM6
PNPLA6
PARK7
NLRP3
RAB39B
CIZ1
ADCK3
MFN2
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
ARX
DEPDC5
SPG20
CPT1C
LRRK2
PMPCA
CAMTA1
IFIH1
GBA2
ADCK4
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
UPF3B
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
CLN8
THAP1
SLC39A14
SLC39A8
AARS2
FA2H
PDHX
RARS2
NHLRC1
KLC4
RNF216
COL4A1
COL6A3
AP5Z1
COQ7
ADAR
CP
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13C
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
DCAF17
REEP1
SRD5A3
WDR73
FAM134B
TTC19
CYP27A1
CYP7B1
HGSNAT
ZFYVE27
WDR81
C12orf65
COX20
DBT
DCTN1
IBA57
TSEN54
SLC6A19
TSEN2
B3GALNT2
DNAJC12
WDR45
DLAT
KIAA0196
RUBCN
ABCA1
DDHD2
TOR1AIP1
MSTO1
DNM2
DNMT1
COASY
PIK3R5
POLR3A
ATP13A2
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
TOR1A
AFG3L2
ECHS1
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ENTPD1
PTRHD1
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
GRIN1
GRM1
GRN
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
MID1
ARSA
MRE11A
MT-ATP6
MTHFR
ASL
MTTP
ASS1
ATCAY
NOTCH3
NPC1
ATM
NRAS
ATP1A2
ATP1A3
NT5C2
OPA1
OPA3
OPHN1
OTC
PARK2
PAX2
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
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb

Gen Panel (189 Gene )

RYR1
BIN1
SCN4A
AIMP1
SGCA
SGCB
SGCD
SGCG
SLC22A5
SLC25A1
SLC35A3
SNAP25
SYT2
TCAP
TGFBR2
TK2
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
MYOT
TTN
TUBB2A
UBA1
VPS33B
ZMPSTE24
ACTA1
ACTB
LPIN1
TMEM5
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SEPN1
SLC52A3
TRIM32
MFN2
SPEG
KLHL41
SYNE2
SYNE1
BICD2
RRM2B
EXOSC3
FKRP
TRPV4
FKBP10
NEK9
FKBP14
CFL2
NALCN
CHAT
POMGNT1
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
POMT2
VIPAS39
SLC25A26
ABHD5
CNTN1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
GMPPB
ALG2
CPT2
GNE
ADCY6
CRYAB
ASCC1
CHST14
SIL1
ZC4H2
CTDP1
CUL4B
LAS1L
POMGNT2
POMK
PIEZO2
DOK7
IBA57
ANO5
TSEN54
DES
ALG14
TSEN2
TMEM43
B3GALNT2
ADSL
DMD
DYNC1H1
DYNC2H1
MEGF10
DNM2
ISCU
DPAGT1
DPM2
KLHL40
SEPSECS
PNPLA2
TUBB2B
DYSF
TOR1A
ECEL1
AGL
EGR2
ZBTB42
AGRN
EMD
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FBN2
FKTN
FGFR2
FHL1
KBTBD13
ISPD
FLNB
FLNC
GAA
GARS
GBA
GBE1
GFPT1
GLE1
HADH
HADHA
HADHB
RIPK4
HRAS
HSPG2
IGHMBP2
FOXP3
ITGA7
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
MAGEL2
MATR3
MPZ
MTM1
MTMR1
MUSK
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NEB
NEFL
CNTNAP1
PFKM
ACADM
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
POLG
ACADVL
POMT1
BAG3
PYGM
RAPSN
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb

Gen Panel (189 Gene )

RYR1
BIN1
SCN4A
AIMP1
SGCA
SGCB
SGCD
SGCG
SLC22A5
SLC25A1
SLC35A3
SNAP25
SYT2
TCAP
TGFBR2
TK2
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
MYOT
TTN
TUBB2A
UBA1
VPS33B
ZMPSTE24
ACTA1
ACTB
LPIN1
TMEM5
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SEPN1
SLC52A3
TRIM32
MFN2
SPEG
KLHL41
SYNE2
SYNE1
BICD2
RRM2B
EXOSC3
FKRP
TRPV4
FKBP10
NEK9
FKBP14
CFL2
NALCN
CHAT
POMGNT1
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
POMT2
VIPAS39
SLC25A26
ABHD5
CNTN1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
GMPPB
ALG2
CPT2
GNE
ADCY6
CRYAB
ASCC1
CHST14
SIL1
ZC4H2
CTDP1
CUL4B
LAS1L
POMGNT2
POMK
PIEZO2
DOK7
IBA57
ANO5
TSEN54
DES
ALG14
TSEN2
TMEM43
B3GALNT2
ADSL
DMD
DYNC1H1
DYNC2H1
MEGF10
DNM2
ISCU
DPAGT1
DPM2
KLHL40
SEPSECS
PNPLA2
TUBB2B
DYSF
TOR1A
ECEL1
AGL
EGR2
ZBTB42
AGRN
EMD
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FBN2
FKTN
FGFR2
FHL1
KBTBD13
ISPD
FLNB
FLNC
GAA
GARS
GBA
GBE1
GFPT1
GLE1
HADH
HADHA
HADHB
RIPK4
HRAS
HSPG2
IGHMBP2
FOXP3
ITGA7
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
MAGEL2
MATR3
MPZ
MTM1
MTMR1
MUSK
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NEB
NEFL
CNTNAP1
PFKM
ACADM
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
POLG
ACADVL
POMT1
BAG3
PYGM
RAPSN

Einzelgenanalyse

Derzeit wird für dieses Gen keine Einzelgenanalyse, sondern eine Diagnostik im Rahmen einer Multi-Gen Panel-Analyse angeboten.

Assoziierte Erkrankung(en)