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CTDP1

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 604927

Gen-Panel-Analysen, die CTDP1 enthalten

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
Neuropathie, motorisch-sensibel / CMT1, CMT2, dHMN - umfassende Diagnostik ID 288.02 | >25kb

Gen Panel (117 Gene )

SACS
SBF1
SCN9A
SLC12A6
SORD
SPG11
ATL1
SPAST
SPTLC1
SPTLC2
SURF1
SYT2
TARDBP
TFG
TNNT2
TTR
VAPB
VCP
YARS
PRX
SLC5A7
ARHGEF10
CHCHD10
BSCL2
NDUFAF5
GDAP1
TRIM2
SLC52A3
LITAF
FIG4
MFN2
DGAT2
NIPA1
OPTN
BICD2
TRPV4
TDP1
FGD4
AARS
GNB4
TUBB3
SBF2
COX10
COX6A1
KLHL13
MYH14
DHTKD1
MORC2
INF2
FAM126A
SIL1
DCAF8
CTDP1
LRSAM1
SLC25A46
REEP1
CYP27A1
C12orf65
DCTN1
FBXO38
MED25
ABCA1
PLEKHG5
SH3TC2
DYNC1H1
DNM2
HSPB8
SLC52A2
TYMP
EGR2
FBLN5
FXN
FUS
GALC
GAN
GARS
GJB1
GLA
ALS2
SETX
GSN
HADHA
HADHB
HARS
ANG
HINT1
HK1
DNAJB2
HSPB1
HSPB3
IFRD1
IGHMBP2
IKBKAP
KARS
KIF5A
LMNA
SMAD3
MARS
MPV17
MPZ
SEPT9
MTMR2
NAGLU
NDRG1
NEFL
SIGMAR1
ATP7A
AIFM1
PDHA1
PDK3
PEX12
PLP1
PMP22
POLG
BAG3
PRPS1
RAB7A
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.08 | >25kb

Gen Panel (299 Gene )

RYR1
SACS
BIN1
SARS
SBF1
SCN10A
SCN11A
SCN4A
SCN9A
SCO2
SGCA
SGCB
SGCD
SGCG
SGPL1
DST
SLC12A6
SLC16A2
SLC25A1
SMN1
SNAP25
SOD1
SORD
SPG11
ATL1
SPAST
SPTLC1
SPTLC2
SQSTM1
STIM1
SURF1
SYT2
TARDBP
TBK1
TCAP
TFG
TIA1
TK2
TNNT1
TNNT2
TNNT3
TNXB
TPM2
TPM3
TRIP4
TTN
TTR
TUBA4A
UBA1
UBQLN2
VAPB
VCP
VRK1
YARS
ACTA1
TMEM5
AAAS
PRX
PRDM12
SLC5A7
ARHGEF10
CCDC78
JPH1
SLC25A21
WNK1
CAPN3
DNAJB5
CASQ1
MICU1
CHCHD10
B4GAT1
BSCL2
RBCK1
ABHD12
NDUFAF5
GDAP1
TRIM2
SEPN1
LIMS2
CCT5
SLC52A3
SPTLC3
TRIM32
KIF1B
LITAF
FIG4
MFN2
CD59
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
TNPO3
OPTN
BICD2
CLCF1
CADM3
EXOSC3
FKRP
TRPV4
MYO18B
FKBP14
CFL2
TDP1
CHAT
FGD4
POMGNT1
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
POMT2
TECPR2
AARS
SLC25A26
GNB4
TUBB3
SBF2
CNTN1
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
COLQ
ADAR
COX10
COX6A1
KLHL13
GMPPB
UNC13A
ALG2
MYH14
DOLK
DHTKD1
MORC2
CRLF1
INF2
PTRH2
ASCC1
ATL3
CHMP2B
FAM126A
SIL1
DCAF8
CTDP1
LRSAM1
SLC25A46
COA7
LAS1L
TRAPPC11
REEP1
ORAI1
POMGNT2
FAM134B
CYP27A1
POMK
PIEZO2
KY
DOK7
DAG1
C12orf65
DCTN1
DCTN2
ANO5
DES
ALG14
B3GALNT2
FBXO38
MED25
ABCA1
PLEKHG5
DMD
EPG5
SH3TC2
TOR1AIP1
DYNC1H1
MEGF10
DNM2
DNMT1
DPAGT1
DPM1
DPM2
DPM3
HSPB8
SLC52A2
PREPL
DRP2
POLR3B
KLHL40
VWA1
DYSF
TYMP
EGR2
AGRN
EMD
FBLN5
FKTN
FHL1
KBTBD13
ISPD
FXN
FUS
GAA
GALC
GAN
GARS
GBE1
GBF1
GFPT1
GJB1
GLA
GLDC
ALS2
SETX
AMACR
GSN
GYG1
HADHA
HADHB
HARS
ANG
HEXA
HINT1
HK1
TRPA1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
DNAJB2
HSPB1
HSPB3
ANXA11
IFRD1
IGHMBP2
IKBKAP
ITGA7
ITPR3
JAG1
KARS
KIF5A
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
LRP4
SMAD3
MARS
MATR3
MCM3AP
MME
MPV17
MPZ
SEPT9
ASAH1
MTM1
MTMR2
MUSK
MYH7
MYO9A
NAGLU
NDRG1
NEB
NEFH
NEFL
NEK1
NGF
ATM
ATP1A1
CNTNAP1
NTRK1
SIGMAR1
ATP7A
AIFM1
PDHA1
PDK3
PEX12
KIF1A
PFN1
PLEC
PLP1
PMP2
PMP22
PNKP
POLG
POMT1
BAG3
PRPS1
PTRF
RAB7A
RAPSN

Einzelgenanalyse

Assoziierte Erkrankung(en)