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NSD1

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 606681

Gen-Panel-Analysen, die NSD1 enthalten

Hirnfehlbildungen / neuronale Migrationsstörungen - Gesamtpanel ID 144.04 | >25kb

Gen Panel (270 Gene )

RPL10
RPS6KA3
SGCE
SGSH
SHH
STIL
SIX3
SLC16A2
SLC2A1
SLC9A6
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMS
SOX3
SPTAN1
CDKL5
STUB1
STXBP1
SYN1
SYNGAP1
SYNJ1
SYP
TDGF1
TGIF1
TSPAN7
MED12
TREX1
TSC1
TSC2
TUBA8
TUBB2A
TUBG1
VLDLR
VRK1
ZIC2
ZNF711
ZNF81
ACTB
FTSJ1
HDAC8
NSDHL
PCLO
CNTNAP2
CACNA1H
CACNB4
NSD1
PCDH19
NLGN4X
NLGN3
ACTG1
ZEB2
CASK
CASR
MBTPS2
TSEN34
JAM3
CCND2
ARFGEF2
PANK2
PLCB1
SAMHD1
TOE1
EFHC1
RAB39B
SCARB2
CLP1
PRICKLE1
MLC1
CDON
CENPJ
BRWD3
NDE1
PORCN
CDK5
EXOSC3
ARID1B
ARX
PHF6
ATP6AP2
CECR1
DEPDC5
ZDHHC9
RNASEH2A
CDK5RAP2
NAA10
KCNT1
IFIH1
ASPM
THOC2
VPS13A
CHD2
CHRNA2
CHRNA4
CHRNB2
DISP1
SLC25A22
FLVCR2
CHD8
CLCN4
PRICKLE2
ZDHHC15
UPF3B
MBD5
PHF8
TPP1
CLN3
CLN5
TUBA1A
CLN6
TUBB3
TUBB4A
TUBB
TBC1D7
RNF135
RMND1
FA2H
RARS2
NHLRC1
RNASET2
KCTD7
COL4A1
COL4A2
ADAR
CP
KIF1BP
RNASEH2C
WDR62
SMC3
CSTB
RAB40AL
C19orf12
CUL4B
TBC1D23
OFD1
RNASEH2B
DCAF17
CYP27A1
CTC1
HEPACAM
PTCHD1
HGSNAT
DOK7
DARS
DCX
TSEN54
TSEN2
DIS3L2
NIPBL
MAGT1
DKC1
WDR45
DLG3
SZT2
IQSEC2
DLL1
TBC1D24
SHROOM4
CEP152
KIAA2022
GPSM2
POLR3A
ATP13A2
PNPO
POLR3B
KIF7
PRRT2
SEPSECS
SRPX2
TUBB2B
HUWE1
DYRK1A
EEF1A2
EIF2B3
EIF2B5
EIF2S3
EMX2
EPM2A
EZH2
FGD1
FGF8
FGFR3
FLNA
AFF2
FOXG1
FOXH1
AKT1
AKT3
MTOR
FTL
GABRA1
GABRD
GABRG2
GALC
GAMT
GDI1
GK
GLDC
GLI2
GLI3
GNAQ
GOSR2
GPC3
ADGRG1
GRIA3
GRIN2A
AMPD2
HSD17B10
HCFC1
HCN1
HERC2
HNRNPDL
HPRT1
IDS
IGBP1
AP1S2
IKBKAP
IL1RAPL1
ITM2B
KATNB1
KCNH5
KCNQ2
KCNQ3
KIF2A
KIF5C
KPTN
L1CAM
LAMB1
LGI1
MAOA
ARHGEF6
MCPH1
MECP2
MEF2C
MID1
ASAH1
MYBPC1
ASPA
NEDD4L
NEU1
NFIX
NODAL
NOL3
NOTCH3
NRXN1
OCLN
OPHN1
PAFAH1B1
PAK3
CHMP1A
ALDH7A1
PGK1
PHGDH
PIK3CA
PIK3R2
PLA2G6
PNKP
PPT1
PQBP1
HTRA1
PTCH1
PTEN
QARS
RAD21
RBM10
RELN
Syndromale Erkrankungen - Gesamtpanel ID 161.04 | >25kb

Gen Panel (474 Gene )

RIT1
ROR2
RPL10
RPS6KA3
RRAS
RUNX2
SALL1
BLM
BMP1
SDCCAG8
BMP2
SF3B4
SGSH
SHOX
ST3GAL3
SLC16A2
BRAF
SLC26A2
BRCA2
SLC6A8
SLC9A6
SNAI2
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMPD1
SMS
SOS1
SOS2
SOX10
SOX3
SOX9
STAG1
STAG2
STAT5B
CDKL5
SYN1
SYNGAP1
SYP
TBX3
TBX5
TCF12
TCF4
TCOF1
TFAP2A
TIMM8A
TKT
TSPAN7
MED12
TOP3A
TRPS1
TSC1
TSC2
ACP5
TWIST1
UBE2A
UBE3A
KDM6A
WNT1
WNT5A
XRCC2
KAT6A
ZNF711
ZNF81
ACTB
BCL11A
LMBR1
FTSJ1
HDAC8
MCOLN1
NSDHL
IFT122
SCUBE3
DCHS1
CTCF
CNTNAP2
FOXP2
CACNG2
NSD1
RAB23
PCDH19
NLGN4X
NLGN3
SHANK3
CRIPT
ACTG1
NPC2
ARHGEF9
CAMK2A
CAMK2B
PAPPA2
ZEB2
ALX1
PPP1R15B
CASK
SNX14
CBL
SHOC2
MBTPS2
SERPINH1
CBS
SETBP1
NBAS
GZF1
CCND2
SALL4
TP63
RAB39B
IFITM5
UBR1
SRCAP
MLC1
EXOSC2
RRAS2
SP7
WAC
BRWD3
CDC45
CDH15
KAT6B
PORCN
CDKN1C
ARID2
ARID1B
ARX
PHF6
FKBP10
TMCO1
ATP6AP2
ASXL1
WDR19
SETD2
ZDHHC9
RTTN
NAA10
BBS7
POGZ
THOC2
DOCK6
P3H1
SCARF2
KIAA0586
ZNF408
TTC8
FLVCR2
CHD8
POLR1C
CLCN4
SPRED1
ZDHHC15
SUMF1
POLR1D
UPF3B
MBD5
BRIP1
CYP26B1
CHD7
CLIC2
PHF8
FANCL
BCOR
CUL7
TBC1D7
RNF135
ANKRD11
INPP5E
AHI1
VPS13B
COL10A1
COL1A1
COL1A2
COL2A1
COMP
MED13L
PEX26
GNPTG
TRAPPC2
SLC10A7
FAT4
A2ML1
CREBBP
MED23
CRTAP
ASXL2
SLX4
B9D1
POC1A
TCTN3
C2CD3
KANSL1
EHMT1
SMC3
UBE2T
TMEM216
CTNNB1
CCDC8
RAB40AL
TMEM38B
CUL4B
SETD5
FANCI
TTC21B
OFD1
LAS1L
TCTN2
C5orf42
NSUN2
PUS7
PALB2
CTC1
CSPP1
BBS10
HEPACAM
PTCHD1
HGSNAT
BBS12
TMEM138
DCX
ESCO2
DDR2
DDX3X
GRHL2
TMEM67
TRMT10A
FAM58A
POLR3GL
EOGT
DHCR7
B9D2
DIS3L2
DHODH
NIPBL
MAGT1
DKC1
CCDC22
WDR45
IQCB1
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
KIF7
TXNL4A
SRPX2
GATAD2B
TRAPPC9
DVL1
EFTUD2
HUWE1
DYRK1A
EDN3
EDNRA
EDNRB
ACAN
AGL
EFNB1
EIF2B5
EIF2S3
EMD
EP300
EPB41L1
ERCC4
ERCC6
ERCC8
ERF
EZH2
ACSL4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FGD1
FGFR1
FGFR2
FGFR3
FHL1
TMEM231
FLNA
FLNB
FMR1
AFF2
FOXG1
FOXP1
AKT1
AKT3
MTOR
FUCA1
G6PC
SLC37A4
GAA
GALNS
GBA
GBE1
GDI1
GFAP
GH1
GHR
GHRHR
ALMS1
GK
GLB1
GLI3
ALPL
GNAQ
GNAS
GNS
GPC3
ALX3
ALX4
TECR
GRIA3
GRIK2
GRIN1
GRIN2A
GRIN2B
GSC
AMMECR1
GUSB
HSD17B10
HCCS
HCFC1
HERC2
HEXA
HEXB
ANK3
HMGA2
HOXA1
HOXD13
HPRT1
HRAS
IDH1
IDH2
IDS
IDUA
IGBP1
IGF1
IGF1R
IGF2
IGFALS
AP1S2
ABCC6
RBPJ
IKBKG
IL11RA
IL1RAPL1
ABCC9
INSR
IRF6
JAG1
KCNJ10
KPTN
KRAS
L1CAM
ARCN1
LAMP2
LRP5
LTBP3
LZTR1
SMAD6
MAGEL2
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
ARHGEF6
MECP2
MEF2C
MID1
MITF
MKKS
MKS1
KMT2A
KMT2D
MSX2
MTM1
TRIM37
ASPA
MYH7
NAGLU
NBN
NDP
NDUFA1
NF1
NFIX
NHS
NOG
NOTCH2
NPC1
NPHP1
NPR2
NRAS
NRXN1
OCRL
OPHN1
OTC
PAK3
PAX3
ATP7A
AIFM1
PDHA1
SERPINF1
PEX1
PEX10
PEX12
PEX6
ATRX
KIF1A
PGK1
PHKA1
PHKA2
PHKB
PHKG2
PIK3CA
PIK3R1
PIK3R2
PITX1
PLAG1
PLOD2
PLP1
POR
B3GAT3
PPIB
PPP1CB
B4GALT7
PQBP1
PRPS1
PTCH1
PTEN
PTH1R
PTPN11
BBS1
BBS2
BBS4
PEX2
PYGL
PYGM
RAD21
RAF1
RAI1
RASA1
RASA2
RBM10
RBM8A
RECQL4

Einzelgenanalyse

Assoziierte Erkrankung(en)