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BAG3

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 603883

Gen-Panel-Analysen, die BAG3 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 088.05 | >25kb

Gen Panel (169 Gene )

RIT1
RRAS
RYR2
SCN10A
SCN1B
SCN2B
SCN4B
SCN5A
SCO2
SDHA
BMPR2
SGCD
SKI
SLC22A5
BRAF
SLC25A3
SLC4A3
SNTA1
SOS1
SOS2
TAZ
TBX1
TBX20
TBX5
TCAP
TGFB2
TGFB3
TGFBR1
TGFBR2
TLL1
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TTN
TTR
KDM6A
VCL
ZIC3
ACTA2
MYOZ2
GFM1
CACNA1C
CACNA2D1
CACNB2
JPH2
SLC25A20
NSD1
ACTC1
CALM1
CALM2
CALM3
CRELD1
ZEB2
CASQ2
CAV3
CBL
SHOC2
LDB3
GATA5
ACTN2
SLMAP
ZFPM2
HCN4
TAB2
SYNE2
RRAS2
ACVR2B
RANGRF
SPRED2
TRPM4
MTO1
ADAMTSL4
CITED2
PCSK9
SPRED1
CHD7
SCN3B
AARS2
ACAD9
AGK
COL3A1
COX15
MED13L
CPT1A
CPT2
A2ML1
CRYAB
CSRP3
NKX2-5
TMEM70
RBM20
DES
TMEM43
GPD1L
DMD
DNAH11
NEXN
DSC2
DSG2
DSP
NKX2-6
ELN
EYA4
FBN1
FLNA
FLNC
AKAP9
FOXH1
GATA4
GATA6
GDF1
GJA1
GLA
ANK2
HRAS
ABCC9
APOB
JAG1
JUP
KCND3
KCNE1
KCNE5
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
KRAS
LAMP2
LDLR
LMNA
LZTR1
SMAD2
SMAD3
SMAD6
MAP2K1
MAP2K2
MEIS2
KMT2D
MRAS
MYBPC3
MYH11
MYH6
MYH7
MYL1
MYL2
MYL3
ABL1
NF1
NODAL
NOTCH1
NOTCH2
NR2F2
NRAS
ACADM
ACADS
PKP2
PLN
ACADVL
PPP1CB
PRKAG2
BAG3
PTPN11
RAF1
RASA2
Myopathien/Muskeldystrophien - Gesamtpanel ID 089.07 | >25kb

Gen Panel (222 Gene )

RYR1
BIN1
SCN4A
SCO2
SGCA
SGCB
SGCD
SGCG
SLC18A3
SLC22A5
SLC25A1
SLC25A3
SLC25A4
SLC6A5
SMN1
SNAP25
SPG7
SQSTM1
STIM1
SYT2
BVES
TAZ
C10orf2
TCAP
TIA1
TK2
TNNT1
TNNT3
TNXB
TPM2
TPM3
TRIP4
MYOT
TTN
UBA1
VAMP1
VCP
ACTA1
LPIN1
TMEM5
MACF1
SLC5A7
CCDC78
SLC25A20
CAPN3
DNAJB6
CASQ1
CAV3
MICU1
PUS1
B4GAT1
LDB3
OBSCN
RBCK1
GDAP1
SEPN1
LIMS2
SLC52A3
MGME1
TRIM32
MFN2
EXOSC8
RPH3A
SYNE2
SYNE1
TNPO3
BICD2
RRM2B
POPDC3
EXOSC3
FKRP
TRPV4
MYO18B
RNASEH1
FKBP14
CFL2
CHAT
POMGNT1
MTO1
KIF21A
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
POMT2
ADSSL1
CHD8
CLCN1
SLC25A26
TUBB3
ABHD5
CNTN1
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
COLQ
GMPPB
TRMT5
UNC13A
ALG2
MYH14
MYPN
CPT1A
CPT2
DOLK
GNE
CRYAB
ASCC1
FLAD1
LAS1L
TRAPPC11
ORAI1
POMGNT2
PYROXD1
MTMR14
POMK
PIEZO2
KY
DOK7
DAG1
C12orf65
ANO5
DES
ALG14
TMEM43
DGUOK
B3GALNT2
SMCHD1
DMD
EPG5
DNA2
TOR1AIP1
DYNC1H1
MEGF10
SLC25A32
DNM2
DNMT3B
ISCU
DPAGT1
DPM1
DPM2
DPM3
PREPL
LRIF1
KLHL40
FDX2
DTNA
PNPLA2
TMEM126B
DYSF
TYMP
AGL
EGR2
AGRN
EMD
AK9
ETFA
ETFB
ETFDH
FKTN
FHL1
KBTBD13
ISPD
FLNC
GAA
GARS
GBE1
GFPT1
GLA
GLRA1
GLRB
AMACR
AMPD1
GYG1
HADH
HADHA
HADHB
HINT1
HMGCR
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
IGHMBP2
ITGA7
LAMA2
LAMA5
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
LRP4
MATR3
MPZ
MTM1
MUSK
MYH2
MYH7
MYO9A
NEB
NEFL
OPA1
PFKM
PGK1
ACADM
ACADS
PLEC
PHOX2B
POLG
POLG2
ACADVL
POMT1
BAG3
PTRF
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)