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MAGEL2

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 605283

Gen-Panel-Analysen, die MAGEL2 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
Syndromale Erkrankungen - Gesamtpanel ID 161.05 | >25kb

Gen Panel (640 Gene )

RIT1
ROR2
RPL10
RPS6KA3
RRAS
RUNX2
SALL1
SARS
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
ADCK3
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
C5orf42
NSUN2
PUS7
CYP27A1
PALB2
CTC1
CSPP1
BBS10
HEPACAM
PTCHD1
HGSNAT
BBS12
TMEM138
DBT
DCX
DDC
ESCO2
DDR2
DDX3X
GRHL2
TMEM67
TRMT10A
FAM58A
POLR3GL
MFSD8
EOGT
DHCR7
DHFR
B9D2
DIS3L2
DHODH
COQ5
NIPBL
MAGT1
DKC1
DNAJC12
CCDC22
WDR45
IQCB1
DLAT
DLD
KIAA0196
DLG3
CEP290
SPECC1L
SZT2
IQSEC2
OBSL1
DLL4
SHROOM4
ARHGAP31
CC2D2A
DMD
EPG5
ASXL3
KIAA2022
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
G6PC
SLC37A4
GAA
ALDH5A1
GALNS
GAMT
GATM
GBA
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
IARS
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
LARS
LEP
LEPR
LIG4
ARG1
LRP5
LTBP3
LZTR1
SMAD6
ABCD4
MAGEL2
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
ARHGEF6
MARS
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
MUT
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
PROSC
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

Assoziierte Erkrankung(en)