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FGFR2

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 176943

Gen-Panel-Analysen, die FGFR2 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
RXYLT1
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SELENON
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
CRPPA
FLNB
FLNC
GAA
GARS1
GBA1
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
RXYLT1
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SELENON
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
CRPPA
FLNB
FLNC
GAA
GARS1
GBA1
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
Neuromuskuläre Erkrankungen ID 267.02 | >25kb

Gen Panel (555 Gene )

BCS1L
RYR1
SACS
BIN1
SBF1
SCN10A
SCN11A
SCN4A
SCN9A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCA
SGCB
SGCD
SGCG
DST
SLC12A6
SLC16A2
SLC19A2
SLC22A5
SLC25A1
SLC25A12
SLC25A3
SLC25A4
SLC35A3
SLC6A5
SLC6A8
SMN1
SNAP25
SOD1
SPG11
ATL1
SPAST
SPG7
SPTLC1
SPTLC2
SQSTM1
STAT2
STIM1
SUCLA2
SUCLG1
SURF1
SYT2
BVES
TALDO1
TARDBP
TAFAZZIN
TBK1
TWNK
TCAP
TFG
ACO2
TIA1
TIMM8A
TK2
TNNI2
TNNT1
TNNT2
TNNT3
TNXB
TPM2
TPM3
TRIP4
TSFM
MYOT
TTN
TTR
TUBA4A
TUFM
UBA1
UBQLN2
UQCRB
UQCRC2
VAPB
VCP
VPS33B
VRK1
WFS1
XRCC4
YARS1
ZMPSTE24
ACTA1
ACTB
LPIN1
RXYLT1
FBXL4
AAAS
GFM1
PRX
ADGRG6
CACNA1S
SLC5A7
MRPS16
ARHGEF10
CCDC78
SLC25A20
CAD
ACTG1
SLC25A19
MRPS7
ACTG2
MRPS22
WNK1
CAPN3
GTPBP3
DNAJB5
DNAJB6
CASQ1
CAV3
MICU1
TSEN34
PUS1
CHCHD10
NBAS
B4GAT1
LDB3
LRPPRC
BSCL2
RBCK1
ABHD12
PANK2
NDUFAF5
GDAP1
TRIM2
APTX
SELENON
LIMS2
CCT5
SLC52A3
MGME1
COX4I2
SPTLC3
SLC19A3
NFU1
TRIM32
LIAS
MRPL44
COQ8A
LITAF
FIG4
MFN2
SPEG
KLHL41
DGAT2
CLP1
EXOSC8
NIPA1
SYNE2
SYNE1
LARS2
TNPO3
OPTN
NDUFA13
BICD2
RRM2B
TRNT1
TPK1
PITRM1
SARS2
PDSS1
TXN2
EXOSC3
FKRP
TRPV4
AFG2A
MYO18B
FKBP10
RNASEH1
NEK9
FKBP14
PMPCA
CFL2
ATPAF2
NDUFAF1
TDP1
COQ8B
NALCN
CHAT
FGD4
POMGNT1
MTO1
KIF21A
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
COQ4
POMT2
ISCA2
TECPR2
AARS1
ADSS1
CLCN1
COQ6
NUBPL
TRIT1
VIPAS39
NDUFA11
NDUFB11
COA8
SLC25A26
GNB4
CLN3
TUBB3
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
SBF2
PDHX
ABHD5
RARS2
ACAD9
VARS2
CNTN1
AGK
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
COQ7
ADAR
COX10
COX15
COX6A1
COX6B1
KLHL13
GMPPB
COX8A
PDSS2
TRMT5
ALG2
PNPT1
MYH14
CPT1A
ETHE1
CPT2
DOLK
DHTKD1
MORC2
GNE
ADCY6
INF2
CRYAB
NDUFA12
CISD2
YARS2
PTRH2
ASCC1
TACO1
BOLA3
CHST14
ATL3
CHMP2B
HYCC1
SIL1
FLAD1
DCAF8
ZC4H2
CTDP1
MARS2
LRSAM1
SLC25A46
COQ2
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
ANO10
MTPAP
DARS2
CUL4B
CARS2
LAS1L
TRAPPC11
REEP1
ORAI1
POMGNT2
RETREG1
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
MTMR14
POMK
PIEZO2
NARS2
KY
DOK7
DAG1
MTRFR
FOXRED1
DCTN1
IBA57
ANO5
TSEN54
DES
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
TSEN2
STAC3
TMEM43
DGUOK
B3GALNT2
NDUFAF6
FBXO38
MED25
DLAT
DLD
ABCA1
SMCHD1
ADSL
PLEKHG5
FASTKD2
DMD
EPG5
DNA2
EARS2
SH3TC2
TOR1AIP1
UQCRQ
DYNC1H1
DYNC2H1
MEGF10
MTFMT
IARS2
DNM1L
DNM2
DNMT1
DNMT3B
ISCU
NDUFAF3
DPAGT1
DPM1
DPM2
DPM3
HSPB8
SLC52A2
PREPL
PYCR2
LRIF1
KLHL40
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
TUBB2B
DYSF
ECEL1
TYMP
AFG3L2
ECHS1
AGL
EGR2
EIF2AK3
ZBTB42
AGRN
EMD
COA5
SDHAF1
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FAT1
FBLN5
FBN2
FKTN
FGFR2
FHL1
KBTBD13
CRPPA
FLNB
FLNC
FXN
ALAS2
FUS
GAA
GALC
GAN
GARS1
GBA1
GBE1
GCDH
GFAP
GFER
GFPT1
GJB1
GLA
GLDC
GLE1
GLRA1
GLRB
ALS2
GOSR2
SETX
AMACR
GSN
AMPD1
GYG1
HADH
ABCB7
HADHA
HADHB
HARS1
HARS2
ANG
HEXA
HIBCH
HINT1
HK1
RIPK4
TRPA1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
HRAS
DNAJB2
HSPB1
HSPB3
HSPG2
IFRD1
IGHMBP2
ELP1
FOXP3
ITGA7
KARS1
KCNE3
KCNJ2
KIF5A
LAMA2
LAMB2
LAMP2
LARGE1
LARS1
LMNA
LMOD3
LRP4
SMAD3
MAGEL2
MARS1
MATR3
MPV17
MPZ
SEPTIN9
ASAH1
MTM1
MTMR1
MTMR2
MUSK
MYBPC1
MYF6
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NAGLU
NDRG1
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEFL
NGF
ATM
ATP1A3
CNTNAP1
NTRK1
ATP2A1
OPA1
OPA3
SIGMAR1
ATP5F1A
ATP5F1E
PABPN1
PC
ATP7A
ATP7B
AIFM1
PDGFB
PDHA1
PDHB
PDK3
PEX12
PFKM
KIF1A
PGK1
ACADM
AUH
PGM1
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
PLP1
PMP2
PMP22
PHOX2B
POLG
POLG2
ACADVL
POMT1
PDP1
BAG3
DNAJC3
PRPS1
LONP1
SLC33A1
CAVIN1
PYGM
RAB7A
RAPSN
Syndromale Erkrankungen - Gesamtpanel ID 161.05 | >25kb

Gen Panel (640 Gene )

RIT1
ROR2
RPL10
RPS6KA3
RRAS
RUNX2
SALL1
SARS1
BLM
BMP1
SDCCAG8
BMP2
SF3B4
SGSH
SHOX
ST3GAL3
SIM1
SIX1
SIX5
SLC16A2
SLC18A2
BRAF
SLC25A12
SLC25A13
SLC25A15
SLC26A2
SLC2A1
BRCA2
SLC35A2
SLC5A6
SLC6A8
SLC9A6
SNAI2
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMO
SMPD1
SMS
SOS1
SOS2
SOX10
SOX3
SOX9
BTD
SPR
STAG1
STAG2
STAT5B
CDKL5
STXBP1
SYN1
SYNGAP1
SYP
TAF2
TAT
TBX3
TBX5
TCF12
TCF4
TCN2
TCOF1
TFAP2A
TH
TIMM8A
TKT
TSPAN7
MED12
TOP3A
TRPS1
TSC1
TSC2
ACP5
TWIST1
UBE2A
UBE3A
UCP3
KDM6A
WNT1
WNT5A
XRCC2
KAT6A
ZNF711
ZNF81
ACTB
BCL11A
LMBR1
FTSJ1
HDAC8
MCOLN1
NSDHL
SAMD9
IFT122
SCUBE3
DCHS1
CTCF
CA5A
CNTNAP2
FOXP2
CACNG2
NSD1
CAD
RAB23
PCDH19
NLGN4X
NLGN3
SHANK3
CRIPT
ACTG1
SLC25A19
NPC2
ARHGEF9
CAMK2A
CAMK2B
PAPPA2
ZEB2
ALX1
PPP1R15B
CASK
SNX14
CBL
SHOC2
MBTPS2
SERPINH1
CBS
SETBP1
NBAS
GZF1
CCND2
SALL4
TP63
SLC19A3
RAB39B
IFITM5
UBR1
COQ8A
BCKDK
SRCAP
MLC1
EXOSC2
POLR1A
RRAS2
SP7
WAC
BRWD3
TPK1
CDC45
CDH15
KAT6B
PORCN
SPRED2
FARSB
CDKN1C
NAGS
ARID2
ARID1B
ARX
PHF6
FKBP10
TMCO1
ATP6AP2
TMLHE
ASXL1
WDR19
SETD2
NAXE
ZDHHC9
RTTN
CDK5RAP2
NAA10
BBS7
POGZ
PIGM
MMAA
ASPM
THOC2
PSAT1
DOCK6
P3H1
MMAB
EVC2
SCARF2
KIAA0586
ZNF408
TTC8
FLVCR2
CHD8
POLR1C
SLC35C1
CLCN4
SPRED1
ZDHHC15
SUMF1
POLR1D
UPF3B
MBD5
POLR1B
BRIP1
CYP26B1
CHD7
CLIC2
PHF8
TPP1
FANCL
SLC39A8
BCOR
CUL7
TBC1D7
RNF135
ANKRD11
PDHX
INPP5E
ACAD9
AHI1
VPS13B
COL10A1
COL1A1
COL1A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CP
MED13L
PEX26
GNPTG
LMBRD1
TRAPPC2
SLC10A7
FAT4
PIGO
CPS1
ETHE1
A2ML1
CREBBP
MED23
CRTAP
ASXL2
SLX4
B9D1
POC1A
WDR62
TCTN3
MMACHC
C2CD3
KANSL1
EHMT1
SMC3
UBE2T
TMEM216
CTNNB1
MMADHC
CCDC8
RAB40AL
TMEM38B
CUL4B
SETD5
FANCI
TTC21B
OFD1
PGAP1
LAS1L
TCTN2
CPLANE1
NSUN2
PUS7
CYP27A1
PALB2
CTC1
CSPP1
BBS10
HEPACAM
PTCHD1
HGSNAT
BBS12
TMEM138
DBT
DCX
DDC
ESCO2
DDR2
DDX3X
GRHL2
TMEM67
TRMT10A
CCNQ
POLR3GL
MFSD8
EOGT
DHCR7
DHFR
B9D2
DIS3L2
DHODH
COQ5
NIPBL
MAGT1
DKC1
DNAJC12
CCDC22
WDR45
IQCB1
DLAT
DLD
WASHC5
DLG3
CEP290
SPECC1L
SZT2
IQSEC2
OBSL1
DLL4
SHROOM4
ARHGAP31
CC2D2A
DMD
EPG5
ASXL3
NEXMIF
GPSM2
C12orf57
GNPTAB
DNMT3A
DONSON
BBS9
DPH1
PACS1
STRADA
CRBN
CC2D1A
TUSC3
PNPO
KIF7
SLC46A1
TXNL4A
SRPX2
GATAD2B
TRAPPC9
DVL1
EFTUD2
HUWE1
DYRK1A
LINS1
ECHS1
EDN3
EDNRA
AGA
EDNRB
ACAN
AGL
EFNB1
EIF2B5
EIF2S3
EMD
EP300
EPB41L1
EPHB4
AHCY
ERCC4
ERCC6
ERCC8
ERF
ETFA
ETFB
ETFDH
EVC
EYA1
EZH2
ACSL4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FGD1
FGFR1
FGFR2
FGFR3
FHL1
TMEM231
FLNA
FLNB
FMR1
AFF2
FOLR1
FOXG1
FOXP1
AKT1
AKT3
MTOR
FUCA1
G6PC1
SLC37A4
GAA
ALDH5A1
GALNS
GAMT
GATM
GBA1
GBE1
GCDH
GCH1
GDI1
GFAP
GH1
GHR
GHRHR
ALMS1
GK
GLB1
GLDC
GLI3
GLUL
GNA11
ALPL
GNAQ
GNAS
GNS
GOT2
GPC3
ALX3
ALX4
TECR
GRIA3
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GSC
AMMECR1
GUSB
AMT
HSD17B10
HCCS
HCFC1
HERC2
HEXA
HEXB
HIBCH
ANK3
HLCS
HMGCL
HMGCS2
HMGA2
HOXA1
HOXD13
HPRT1
HRAS
IARS1
IDH1
IDH2
IDS
IDUA
IGBP1
IGF1
IGF1R
IGF2
IGFALS
AP1S1
AP1S2
ABCC6
RBPJ
ABCC8
IKBKG
IL11RA
IL1RAPL1
ABCC9
INSR
ABCD1
IRF6
IVD
JAG1
KCNJ10
KCNJ11
KPTN
KRAS
L1CAM
ARCN1
LAMP2
LARS1
LEP
LEPR
LIG4
ARG1
LRP5
LTBP3
LZTR1
SMAD6
ABCD4
MAGEL2
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
ARHGEF6
MARS1
MATN3
MC3R
MC4R
MCPH1
MECP2
MEF2C
MID1
MITF
MKKS
MKS1
MLH1
ARSA
KMT2A
KMT2D
MOCS1
MRAS
MSH2
MSH6
MSX2
MT-CO1
MT-CO2
MT-CO3
MTHFR
MTHFS
MTM1
MT-ND1
MT-ND4
ASL
MT-ND5
MT-ND6
MTR
MTRR
MT-TF
MT-TH
MT-TL1
MT-TQ
MT-TS1
MT-TS2
MT-TW
TRIM37
MMUT
ASPA
MYH7
ASS1
MYT1
NAGLU
NBN
NDP
NDST1
NDUFA1
NF1
NFE2L2
NFIX
NHS
NOG
NOTCH2
NPC1
NPHP1
NPR2
NRAS
NRXN1
NTRK2
OCRL
OPHN1
OTC
PAH
PAK3
PAX3
PCCA
PCCB
ATP7A
ATP7B
AIFM1
ALDH7A1
PDHA1
PDHB
SERPINF1
PEX1
PEX10
PEX12
PEX6
ATRX
KIF1A
PGK1
PHGDH
PHKA1
PHKA2
PHKB
PHKG2
PIGA
PIK3CA
PIK3R1
PIK3R2
PITX1
PLAG1
PLOD2
PLP1
PMM2
PMS2
POMC
POR
B3GAT3
PPIB
PDP1
PPP1CB
ACAT1
B4GALT7
PQBP1
PLPBP
PRPS1
PSPH
PTCH1
PTEN
PTH1R
PTPN11
BBS1
BBS2
PTS
BBS4
PEX2
PYGL
PYGM
QDPR
RAD21
RAF1
RAI1
BCKDHA
BCKDHB
RASA1
RASA2
RBM10
RBM8A
RECQL4
RET

Einzelgenanalyse

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

Assoziierte Erkrankung(en)