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WAS

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 300392

Gen-Panel-Analysen, die WAS enthalten

Carrier Screening (praeCon-Test®) ID 164.04 | >25kb

Gen Panel (604 Gene )

RLBP1
RMRP
BCS1L
RPE65
RS1
SACS
SC5D
BLM
SCNN1A
SCO2
SFTPB
SGCA
SGCB
SGCD
SGCG
SGSH
SH2D1A
ST3GAL5
SLC12A1
SLC12A3
SLC12A6
SLC16A1
SLC16A2
SLC17A5
SLC22A5
SLC25A13
SLC25A15
SLC26A2
SLC34A2
SLC35A1
SLC35A3
SLC3A1
SLC4A1
SLC5A5
SLC7A7
SLC7A9
SLC9A6
SMARCAL1
SMN1
SMPD1
SNAP29
BTD
SPR
SRD5A2
BTK
STAR
SUCLG1
SUOX
TAT
TAFAZZIN
TBCE
TWNK
TCIRG1
TF
TFR2
TG
TGM1
TH
TIMM8A
TK2
ACOX1
TNFRSF11B
CD40LG
TNNT1
MED12
TPO
TREX1
TRHR
TSFM
TSHB
TSHR
TSPYL1
TTPA
TYR
TYRP1
UBA1
UGT1A1
UQCRB
UROS
USH1C
USH2A
CLRN1
VDR
VLDLR
VPS33B
VRK1
WAS
FOXN1
WNT3
WNT7A
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
APTX
SELENON
SLC19A3
USH1G
TRIM32
SLC4A11
SLC45A2
BSND
CD3D
MCEE
CD3E
UBR1
COQ8A
HAX1
RAB3GAP1
MLC1
SLC39A4
RAB3GAP2
PLCE1
ADGRV1
GJC2
DCLRE1C
PDSS1
INVS
EXOSC3
NAGS
FKRP
ALG1
HSD3B7
ATP6V0A2
ADA
LDLRAP1
GRIP1
CFTR
MMAA
NPHP4
FGD4
PSAT1
POMGNT1
P3H1
MMAB
CHM
CHRNA1
CHRND
CHRNE
CHRNG
LYST
POMT2
EVC2
VSX2
SLC25A22
TECPR2
RDH12
GPR143
SLC35C1
CLDN1
SUMF1
CLDN19
DHDDS
SLC24A5
TPP1
CLN5
CLN6
CLN8
SLC35D1
IYD
GTF2H5
PDHX
RARS2
INPP5E
ACAD9
CNGB3
EYS
AHI1
NHLRC1
OSTM1
CERKL
ANTXR2
ADAMTS2
COL11A2
COL17A1
KCTD7
COL4A3
COL4A4
COL4A5
COL7A1
FAM20C
COL27A1
GNPTG
LMBRD1
PDSS2
ALG6
ZNF469
CPS1
CPT1A
ETHE1
CPT2
DOLK
CRB1
SKIC3
CRLF1
GNE
MED17
CRTAP
MMACHC
HYCC1
SIL1
CSTB
G6PC3
MOGS
TMEM216
HOGA1
CTNS
MMADHC
COQ2
CTSC
CTSD
CTSK
FREM2
TRMU
ANO10
VPS53
OFD1
RNASEH2B
CYBA
CYBB
FAM161A
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP27A1
CYP27B1
BBS10
LOXHD1
HYLS1
BBS12
DBT
ACE
DCX
DDB2
DDC
ESCO2
ACSF3
TSEN54
D2HGDH
TMEM67
MFSD8
DGUOK
DHCR24
DHCR7
DKC1
IQCB1
DLD
CEP290
DLL3
PLEKHG5
RPGRIP1L
CC2D2A
DMD
DMP1
DNAH5
DNAI1
UQCRQ
MESP2
DNMT3B
DPAGT1
DPM1
DPYD
SLC26A3
PREPL
PNPO
DSP
DNAJC19
SEPSECS
TYMP
EDA
EDN3
AGA
EDNRB
LCA5
AGL
EFEMP2
EGR2
EIF2AK3
EIF2B5
DUOXA2
AGPS
ABCA3
AGT
ENPP1
AGTR1
EPB42
ABCA4
AGXT
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ETFA
ETFB
ETFDH
EVC
F11
F9
FAH
FANCC
FANCG
AIRE
FBLN5
FBP1
FKTN
FGA
FGB
FGG
FH
ATP8B1
FOLR1
AKR1D1
FUCA1
ALDH3A2
G6PC1
SLC37A4
GAA
ALDH5A1
GALC
GALE
GALK1
GALNS
GALT
GAMT
ALDOB
GATA1
GATM
GBE1
GCDH
GCH1
GCK
ABCB11
GCSH
GDF5
GJA1
ALMS1
GJB2
GLA
GLB1
GLE1
GLI3
ALPL
GNS
ALS2
GP1BA
GP9
AMACR
ADGRG1
GRHPR
GSS
AMH
AMHR2
GUCY2D
GUSB
GYS2
AMT
HADH
HADHA
HADHB
HBB
HESX1
HEXA
HEXB
HJV
HGD
HIBCH
ANK1
HLCS
HMGCL
HMGCS2
HPD
HPRT1
HPS1
HSD17B3
HSD17B4
HSD3B2
HYAL1
IDS
IDUA
SP110
IGBP1
IGF1
IGHMBP2
ABCC8
IGSF1
ELP1
IL2RG
IL7R
INS
INSR
ABCD1
FOXP3
ITGA6
ITGB4
IVD
JAG1
JAK3
KCNJ1
KCNJ11
AQP2
L1CAM
LAMA2
LAMA3
LAMB2
LAMB3
LAMC2
LARGE1
LBR
LDLR
LHCGR
LHX3
LIFR
LIPA
ARG1
LMNA
LPL
LRP2
LRP5
MAN2B1
MAT1A
MCCC1
MCCC2
MCPH1
MGAT2
CIITA
MID1
MKS1
ARSA
ARSB
MLYCD
ARSL
MOCS1
MOCS2
MPI
MPL
MPV17
MPZ
MTHFR
MTM1
ASL
MTTP
MTR
MTRR
TRIM37
MMUT
ASNS
MVK
ASPA
ASS1
MYO15A
MYO5A
MYO7A
NAGA
NAGLU
NBN
NDP
NDRG1
NDUFS6
NEU1
NPC1
NPHP3
NPHS1
ATIC
NR0B1
NR2E3
NTRK1
NUP62
OAT
OCA2
OCRL
OPA3
OTC
ATP6V1B1
PAH
PAX6
PC
PCBD1
PCCA
PCCB
ATP7A
ATP7B
ALDH7A1
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
ACADVL
POMT1
POR
POU1F1
B4GALT1
PDP1
ACAT1
PPT1
PQBP1
PRF1
PROC
PROP1
PRPS1
PSAP
PTH1R
BBS1
PTPRC
BBS2
PTS
PEX2
PYGL
PYGM
QDPR
RAB27A
BCHE
RAG1
RAG2
BCKDHA
RAPSN
BCKDHB
REN
SLC6A8
TTN
WRN
SAMHD1
ARX
DNAI2
VPS13A
FRAS1
CLN3
VPS13B
HGSNAT
DOK7
GNPTAB
STRA6
DYSF
EMD
EPM2A
ERBB3
ERCC2
FANCA
FANCB
FLNA
GBA1
GLDC
HSPG2
NEB
NPHP1
ATM
POLG
RELN
Carrier Screening plus (praeConPlus-Test®) ID 1001.01 | >25kb

Gen Panel (608 Gene )

RLBP1
RMRP
BCS1L
RPE65
RS1
SACS
SC5D
BLM
SCNN1A
SCO2
SFTPB
SGCA
SGCB
SGCD
SGCG
SGSH
SH2D1A
ST3GAL5
SLC12A1
SLC12A3
SLC12A6
SLC16A1
SLC16A2
SLC17A5
SLC22A5
SLC25A13
SLC25A15
SLC26A2
SLC34A2
SLC35A1
SLC35A3
SLC3A1
SLC4A1
SLC5A5
SLC6A8
SLC7A7
SLC7A9
SLC9A6
SMARCAL1
SMN1
SMPD1
SNAP29
BTD
SPR
SRD5A2
BTK
STAR
SUCLG1
SUOX
TAT
TAFAZZIN
TBCE
TWNK
TCIRG1
TF
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
SELENON
SLC19A3
USH1G
TRIM32
SLC4A11
SLC45A2
BSND
CD3D
MCEE
CD3E
UBR1
COQ8A
HAX1
RAB3GAP1
MLC1
SLC39A4
RAB3GAP2
PLCE1
ADGRV1
GJC2
DCLRE1C
PDSS1
INVS
EXOSC3
NAGS
FKRP
ARX
ALG1
HSD3B7
ATP6V0A2
ADA
LDLRAP1
GRIP1
DNAI2
CFTR
MMAA
VPS13A
NPHP4
FGD4
PSAT1
POMGNT1
FRAS1
P3H1
MMAB
CHM
CHRNA1
CHRND
CHRNE
CHRNG
LYST
POMT2
EVC2
VSX2
SLC25A22
TECPR2
RDH12
GPR143
SLC35C1
CLDN1
SUMF1
CLDN19
DHDDS
SLC24A5
TPP1
CLN3
CLN5
CLN6
CLN8
SLC35D1
IYD
GTF2H5
PDHX
RARS2
INPP5E
ACAD9
CNGB3
EYS
AHI1
NHLRC1
OSTM1
CERKL
ANTXR2
ADAMTS2
VPS13B
COL11A2
COL17A1
KCTD7
COL4A3
COL4A4
COL4A5
COL7A1
FAM20C
COL27A1
GNPTG
LMBRD1
PDSS2
ALG6
ZNF469
CPS1
CPT1A
ETHE1
CPT2
DOLK
CRB1
SKIC3
CRLF1
GNE
MED17
CRTAP
MMACHC
HYCC1
SIL1
CSTB
G6PC3
MOGS
TMEM216
HOGA1
CTNS
MMADHC
COQ2
CTSC
CTSD
CTSK
FREM2
TRMU
ANO10
VPS53
OFD1
RNASEH2B
CYBA
CYBB
FAM161A
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP21A2
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
CC2D2A
DMD
DMP1
DNAH5
DNAI1
UQCRQ
MESP2
GNPTAB
DNMT3B
DPAGT1
DPM1
DPYD
SLC26A3
PREPL
PNPO
DSP
DNAJC19
SEPSECS
STRA6
DYSF
TYMP
EDA
EDN3
AGA
EDNRB
LCA5
AGL
EFEMP2
EGR2
EIF2AK3
EIF2B5
DUOXA2
AGPS
ABCA3
AGT
EMD
ENPP1
AGTR1
EPB42
ABCA4
AGXT
EPM2A
ERBB3
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ETFA
ETFB
ETFDH
EVC
F11
F9
FAH
FANCA
FANCB
FANCC
FANCG
AIRE
FBLN5
FBP1
FKTN
FGA
FGB
FGG
FH
ATP8B1
FLNA
FMR1
FOLR1
AKR1D1
FUCA1
ALDH3A2
G6PC1
SLC37A4
GAA
ALDH5A1
GALC
GALE
GALK1
GALNS
GALT
GAMT
ALDOB
GATA1
GATM
GBA1
GBE1
GCDH
GCH1
GCK
ABCB11
GCSH
GDF5
GJA1
ALMS1
GJB2
GLA
GLB1
GLDC
GLE1
GLI3
ALPL
GNS
ALS2
GP1BA
GP9
AMACR
ADGRG1
GRHPR
GSS
AMH
AMHR2
GUCY2D
GUSB
GYS2
AMT
HADH
HADHA
HADHB
HBA1
HBA2
HBB
HESX1
HEXA
HEXB
HJV
HGD
HIBCH
ANK1
HLCS
HMGCL
HMGCS2
HPD
HPRT1
HPS1
HSD17B3
HSD17B4
HSD3B2
HSPG2
HYAL1
IDS
IDUA
SP110
IGBP1
IGF1
IGHMBP2
ABCC8
IGSF1
ELP1
IL2RG
IL7R
INS
INSR
ABCD1
FOXP3
ITGA6
ITGB4
IVD
JAG1
JAK3
KCNJ1
KCNJ11
AQP2
L1CAM
LAMA2
LAMA3
LAMB2
LAMB3
LAMC2
LARGE1
LBR
LDLR
LHCGR
LHX3
LIFR
LIPA
ARG1
LMNA
LPL
LRP2
LRP5
MAN2B1
MAT1A
MCCC1
MCCC2
MCPH1
MGAT2
CIITA
MID1
MKS1
ARSA
ARSB
MLYCD
ARSL
MOCS1
MOCS2
MPI
MPL
MPV17
MPZ
MTHFR
MTM1
ASL
MTTP
MTR
MTRR
TRIM37
MMUT
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
OCA2
OCRL
OPA3
OTC
ATP6V1B1
PAH
PAX6
PC
PCBD1
PCCA
PCCB
ATP7A
ATP7B
ALDH7A1
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
POLG
ACADVL
POMT1
POR
POU1F1
B4GALT1
PDP1
ACAT1
PPT1
PQBP1
PRF1
PROC
PROP1
PRPS1
PSAP
PTH1R
BBS1
PTPRC
BBS2
PTS
PEX2
PYGL
PYGM
QDPR
RAB27A
BCHE
RAG1
RAG2
BCKDHA
RAPSN
BCKDHB
RELN
REN
Primäre Immundefekte ID 907.01 | >25kb

Gen Panel (250 Gene )

RIPK1
RMRP
RORC
BLM
SGPL1
SH2D1A
SKIC2
SMARCAL1
BTK
STAT1
STAT2
STAT3
STAT5B
STIM1
STK4
STX11
STXBP2
TAFAZZIN
TBK1
TCF3
TCN2
TLR3
TNFAIP3
TNFRSF1A
CD40
FAS
CD27
CD40LG
FASLG
CD70
TPP2
TREX1
SERPING1
ACP5
C1QA
C1QB
TYK2
C1QC
C1R
C1S
C2
UNG
WAS
WIPF1
WDR1
FOXN1
ZAP70
IKZF1
C3
AICDA
C5
C6
C7
UNC93B1
C8A
C8B
C9
ITCH
BACH2
BLNK
HTRA2
NHP2
LPIN2
VPS45
CDCA7
CASP10
CASP8
SPINK5
IL36RN
HPS4
RBCK1
RTEL1
SAMHD1
CD19
CARD9
CARD11
NLRP3
NLRC4
CARD14
CD3D
CD3E
CD3G
CD59
HAX1
CD79A
CD79B
TRNT1
LRBA
DCLRE1B
DCLRE1C
IRAK4
TMC6
TICAM1
IL17RC
CEBPE
ADA2
RNASEH2A
ADA
HPS6
IFIH1
LAT
DOCK8
SBDS
LYST
TTC7A
SLC35C1
POMP
TMC8
CHD7
ZBTB24
VPS13B
COPA
ADAR
CORO1A
NLRP12
SLC29A3
FAT4
UNC13D
FERMT3
SKIC3
RNASEH2C
CSF2RB
CSF3R
G6PC3
MOGS
CTLA4
ACD
OTULIN
CTPS1
CTSC
CXCR4
RNASEH2B
NHEJ1
CYBA
CYBB
USB1
ORAI1
CD55
RNF168
ERCC6L2
JAGN1
INO80
DNAJC21
CARMIL2
CFD
MAGT1
DKC1
GINS1
EPG5
MYSM1
CCBE1
DNASE2
DNMT3B
LAMTOR2
DOCK2
SPPL2A
SLC46A1
CLPB
ELANE
EXTL3
F12
FADD
AIRE
AK2
ISG15
G6PD
SLC37A4
GATA1
GATA2
GFI1
TAP1
TAP2
HELLS
CFH
HPS1
NOD2
ICOS
IRF8
CFI
SP110
IFNGR1
IFNGR2
AP3B1
IGLL1
XIAP
IKBKB
IKBKG
IL10
IL10RA
IL10RB
IL12B
IL12RB1
IL17RA
IL1RN
IL21R
IL2RA
IL2RG
IL7R
FOXP3
ITGB2
ITK
JAK3
RPSA
LCK
LIG4
MALT1
MAP3K14
MCM4
CD46
MEFV
ARPC1B
CIITA
MSN
MTHFD1
MVK
MYD88
MYO5B
NBN
NCF1
NCF2
NCF4
NSMCE3
NFKB1
NFKB2
NFKBIA
PNP
ATM
PARN
ATP6AP1
PEPD
CFP
PGM3
PIK3CD
PIK3R1
PLCG2
B2M
POLA1
PRF1
PRKCD
PRKDC
PSMB8
PSTPIP1
PTPRC
RAB27A
RAG1
RAG2
RASGRP1
RFX5
RFXANK
RFXAP

Einzelgenanalyse

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

Assoziierte Erkrankung(en)