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ATRX

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 300032

Gen-Panel-Analysen, die ATRX enthalten

Carrier Screening - Couple ID 164.03 | >25kb

Gen Panel (617 Gene )

RLBP1
RMRP
BCS1L
RPE65
RS1
SACS
SC5D
BLM
SCN2A
SCN8A
SCNN1A
SCNN1B
SCNN1G
SCO2
SFTPB
SFTPC
SGCA
SGCB
SGCD
SGCG
SGSH
SH2D1A
ST3GAL5
SLC12A1
SLC12A3
SLC12A6
SLC16A1
SLC16A2
SLC17A5
SLC22A5
SLC25A13
SLC25A15
SLC26A2
SLC2A1
SLC34A2
SLC35A1
SLC35A3
SLC3A1
SLC4A1
SLC5A5
SLC6A8
SLC7A7
SLC7A9
SLC9A6
SMARCAL1
SMN1
SMPD1
SNAP29
BTD
SPR
SRD5A2
BTK
STAR
SUCLG1
SUOX
TAT
TAZ
TBCE
C10orf2
TCIRG1
TFR2
TG
TGM1
TH
TIMM8A
TK2
ACOX1
TNFRSF11B
CD40LG
TNNT1
MED12
TPO
TREX1
TRHR
TSFM
TSHB
TSHR
TSPYL1
TTN
TTPA
TYR
TYRP1
UBA1
UGT1A1
UQCRB
UROS
USH1C
USH2A
CLRN1
VDR
VLDLR
VPS33B
VRK1
WAS
FOXN1
WNT3
WNT7A
WRN
WT1
XPA
XPC
ZIC3
ZMPSTE24
DUOX2
MCOLN1
NPHS2
ADAMTS13
AAAS
CA2
CDH23
GFM1
PRX
NEUROG3
WNT10A
MRPS16
SLC25A20
RAB23
MRPS22
NPC2
VPS45
ADAMTSL2
ABCA12
PCDH15
CAPN3
CASR
CBS
PUS1
HPS3
HAMP
LRPPRC
HPS4
RTEL1
NDUFAF5
SAMHD1
APTX
SEPN1
USH1G
TRIM32
SLC4A11
SLC45A2
BSND
CD3D
MCEE
CD3E
UBR1
ADCK3
HAX1
RAB3GAP1
MLC1
SLC39A4
RAB3GAP2
PLCE1
ADGRV1
GJC2
DCLRE1C
PDSS1
INVS
EXOSC3
NAGS
FKRP
ARX
ALG1
HSD3B7
ATP6V0A2
ADA
LDLRAP1
DNAI2
CFTR
MMAA
VPS13A
NPHP4
FGD4
PSAT1
POMGNT1
FRAS1
P3H1
MMAB
CHM
SBDS
CHRNA1
CHRND
CHRNE
CHRNG
LYST
POMT2
EVC2
VSX2
SLC25A22
TECPR2
RDH12
SLC35C1
CLDN1
SUMF1
CLDN19
BRIP1
DHDDS
TPP1
CLN3
CLN5
CLN6
CLN8
SLC35D1
IYD
GTF2H5
PDHX
RARS2
INPP5E
ACAD9
CNGB3
EYS
AHI1
NHLRC1
OSTM1
CERKL
ANTXR2
ADAMTS2
VPS13B
COL11A2
COL17A1
KCTD7
COL1A2
COL4A3
COL4A4
COL4A5
COL7A1
FAM20C
COL27A1
GNPTG
LMBRD1
PDSS2
ALG6
ZNF469
CPS1
CPT1A
ETHE1
CPT2
DOLK
CRB1
TTC37
CRLF1
GNE
MED17
CRTAP
MMACHC
FAM126A
SIL1
CSTB
G6PC3
MOGS
TMEM216
HOGA1
CTNS
MMADHC
COQ2
CTSC
CTSD
CTSK
FREM2
TRMU
VPS53
OFD1
CYBA
CYBB
FAM161A
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP27A1
CYP27B1
BBS10
LOXHD1
HGSNAT
HYLS1
DOK7
BBS12
DBT
ACE
DCX
DDB2
DDC
ESCO2
ACSF3
TSEN54
D2HGDH
TMEM67
MFSD8
DGUOK
DHCR24
DHCR7
DKC1
IQCB1
DLD
CEP290
DLL3
PLEKHG5
RPGRIP1L
DMD
DMP1
DNAH5
DNAI1
UQCRQ
MESP2
GNPTAB
DNMT3B
DPAGT1
DPM1
DPYD
SLC26A3
PREPL
PNPO
PRRT2
DSP
DNAJC19
SEPSECS
STRA6
DYSF
TYMP
EDA
EDN3
AGA
EDNRB
LCA5
AGL
EFEMP2
EGR2
EIF2AK3
EIF2B5
DUOXA2
AGPS
AGT
EMD
ENPP1
AGTR1
EPB42
ABCA4
AGXT
EPM2A
ERBB3
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ETFA
ETFB
ETFDH
EVC
F11
F8
F9
FAH
FANCA
FANCB
FANCC
FANCG
AIRE
FBLN5
FBP1
FKTN
FGA
FGB
FGG
FH
ATP8B1
FLNA
FMR1
FOLR1
AKR1D1
FUCA1
ALDH3A2
G6PC
G6PD
SLC37A4
GAA
ALDH5A1
GALC
GALE
GALK1
GALNS
GALT
GAMT
ALDOB
GATA1
GATM
GBA
GBE1
GCDH
GCH1
GCK
ABCB11
GCSH
GDF5
GJA1
ALMS1
GJB1
GJB2
GLA
GLB1
GLDC
GLE1
GLI3
ALPL
GNS
ALS2
GP1BA
GP9
AMACR
ADGRG1
GRHPR
GSS
AMH
AMHR2
GUCY2D
GUSB
GYS2
AMT
HADH
HSD17B10
HADHA
HADHB
HBA1
HBA2
HBB
HESX1
HEXA
HEXB
HFE2
HGD
HIBCH
ANK1
HLCS
HMGCL
HMGCS2
HPD
HPRT1
HPS1
HSD17B3
HSD17B4
HSD3B2
HSPG2
HYAL1
IDS
IDUA
SP110
IGBP1
IGF1
IGHMBP2
ABCC8
IGSF1
IKBKAP
IKBKG
IL2RG
IL7R
INS
INSR
ABCD1
FOXP3
ITGA6
ITGB4
IVD
JAG1
JAK3
KCNJ1
KCNJ11
KCNQ1
KCNQ2
AQP2
L1CAM
LAMA2
LAMA3
LAMB2
LAMB3
LAMC2
LARGE1
LBR
LDLR
LHCGR
LHX3
LIFR
LIPA
ARG1
LMNA
LPL
LRP2
LRP5
MAN2B1
MAT1A
MCCC1
MCCC2
MEFV
MGAT2
CIITA
MKS1
ARSA
ARSB
MLYCD
ARSE
MOCS1
MOCS2
MPI
MPL
MPV17
MPZ
MTHFR
MTM1
ASL
MTTP
MTR
MTRR
TRIM37
MUT
MUTYH
ASNS
MVK
ASPA
ASS1
MYO15A
MYO5A
MYO7A
NAGA
NAGLU
NBN
NDP
NDRG1
NDUFS6
NEB
NEU1
NPC1
NPHP1
NPHP3
NPHS1
ATIC
ATM
NR0B1
NR2E3
NTRK1
NUP62
OAT
OCRL
OPA3
OTC
ATP6V1B1
PAH
PAX6
PAX8
PC
PCBD1
PCCA
PCCB
ATP7A
ATP7B
ALDH7A1
PDHA1
PDHB
SLC26A4
ATR
PEX1
PEX10
PEX6
ATRX
PEX7
CFP
PFKM
ACADM
AUH
PHGDH
PHKB
SERPINA1
AVPR2
ACADS
PKHD1
PKLR
PLA2G6
PLEC
PLG
PLOD1
PLP1
ACADSB
PMM2
PMP22
POLG
ACADVL
POMT1
POR
POU1F1
B4GALT1
PDP1
ACAT1
PPT1
PQBP1
PROC
PROP1
PRPS1
PSAP
PTH1R
BBS1
PTPRC
BBS2
PTS
PEX2
PYGL
PYGM
QDPR
RAB27A
BCHE
RAG1
RAG2
BCKDHA
RAPSN
BCKDHB
RB1
RELN
REN
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)