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TGFBR2

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 190182

Gen-Panel-Analysen, die TGFBR2 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
Kardiomyopathien, umfassende Diagnostik ID 088.04 | >25kb

Gen Panel (183 Gene )

RIT1
RRAS
RYR2
SCN10A
SCN1B
SCN2B
SCN4B
SCN5A
SCO2
SDHA
BMPR2
SGCA
SGCB
SGCD
SGCG
SLC22A5
BRAF
SLC25A3
SNTA1
SOS1
SOS2
TAZ
TBX1
TBX20
TBX5
TCAP
TGFB3
TGFBR1
TGFBR2
TLL1
TNNC1
TNNI3
TNNT2
TPM1
TRDN
MYOT
TTN
TTR
KDM6A
VCL
VCP
ACTA1
ACTA2
MYOZ2
GFM1
CACNA1C
CACNA2D1
CACNB2
SLC25A20
ACTC1
CALM1
CALM2
CRELD1
ZEB2
CASQ2
CAV3
CBL
SHOC2
LDB3
GATA5
ANKRD1
SEPN1
ACTN2
SLMAP
ZFPM2
HCN4
TAB2
SYNE2
SYNE1
RRAS2
RANGRF
TRPM4
FKRP
POMGNT1
MTO1
CHKB
ADAMTSL4
POMT2
CITED2
PCSK9
SPRED1
CHD7
SCN3B
AARS2
ACAD9
AGK
COL3A1
COX15
MED13L
CPT1A
CPT2
A2ML1
GNE
CRYAB
CSRP3
NKX2-5
TMEM70
RBM20
DES
TMEM43
GPD1L
DMD
DNAH11
NEXN
DSC2
DSG2
DSP
PNPLA2
AGL
NKX2-6
ELN
EMD
ETFA
ETFB
ETFDH
FBN1
FKTN
FHL1
FLNC
AKAP9
FOXH1
GAA
GATA4
GATA6
GBE1
GDF1
GJA1
GLA
ANK2
HRAS
ABCC9
APOB
JAG1
JUP
KCND3
KCNE1
KCNE5
KCNE2
KCNE3
KCNH1
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
KRAS
LAMP2
LARGE1
LDLR
LMNA
LZTR1
SMAD3
SMAD6
MAP2K1
MAP2K2
KMT2D
MRAS
MYBPC3
MYH11
MYH6
MYH7
MYL1
MYL2
MYL3
NF1
NODAL
NOTCH1
NOTCH2
NR2F2
NRAS
ACADM
ACADS
PKP2
PLEC
PLN
ACADVL
POMT1
PPP1CB
PRKAG2
BAG3
PTPN11
RAF1
RASA2

Einzelgenanalyse

Assoziierte Erkrankung(en)