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ATM

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 607585

Gen-Panel-Analysen, die ATM enthalten

Ataxie – Manifestation im Erwachsenenalter (ohne Repeat-assoziierte Ataxieformen) ID 936.00 | >25kb

Gen Panel (153 Gene )

SACS
SCN1A
SCN8A
SLC1A3
SLC2A1
SLC9A6
SPG7
SPR
SPTBN2
SQSTM1
STUB1
SYNGAP1
BRF1
TWNK
TERT
NKX2-1
TTPA
VLDLR
WFS1
WWOX
ROBO3
SAMD9L
AAAS
CA8
CACNA1A
CACNA1G
IRF2BPL
ELOVL4
NPC2
CAPN1
COG5
PUM1
CASK
SNX14
ABHD12
TOE1
APTX
DNAJC5
PNPLA6
COQ8A
MFN2
EXOSC8
SYNE1
GJC2
EXOSC3
PMPCA
CAMTA1
GBA2
TTBK2
NKX6-2
CLCN2
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
SLC39A8
RARS2
NHLRC1
RNF216
CP
UBA5
VPS13D
ADCY5
PACS2
PTRH2
MMACHC
SIL1
FLVCR1
CSTB
MARS2
TMEM240
SLC25A46
RNF170
ANO10
DARS2
VPS53
CWF19L1
COA7
SRD5A3
WDR73
CYP27A1
WDR81
COX20
TSEN54
TSEN2
B3GALNT2
DDHD2
MSTO1
DNMT1
COASY
POLR3A
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
AFG3L2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EPM2A
ERCC4
FGF14
FOLR1
FXN
GFAP
GLRA1
GLRB
GOSR2
GPAA1
SETX
GRID2
GRM1
HEXA
HEXB
ITPR1
KCNA1
KCNA2
KCNC3
KCND3
KCNJ10
KCNQ2
KIF1C
ARSA
MRE11
MT-ATP6
MTTP
ATCAY
NPC1
ATM
ATP1A2
ATP1A3
OPA1
OPA3
OPHN1
ATP7B
PEX16
PEX6
AUH
PLA2G6
PMPCB
EXOSC9
PNKD
PNKP
POLG
PRKCG
PRNP
Bewegungsstörungen - Gesamtpanel ID 233.04 | >25kb

Gen Panel (363 Gene )

RTN2
SACS
SCN1A
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
SLC9A6
KDM5C
SNAP25
SNCA
SOD1
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
SQSTM1
STUB1
STXBP1
SUCLA2
SYNGAP1
SYNJ1
SYT1
TAF1
BRF1
TBCD
TWNK
TERT
TFG
TH
NKX2-1
TTPA
TTR
UBQLN2
UBTF
UCHL1
USP8
VAMP1
VCP
VLDLR
VRK1
WFS1
WWOX
XK
XRCC1
ROBO3
SLC2A10
VPS35
SAMD9L
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1G
CACNA2D2
ANO3
SLC5A7
CACNB4
IRF2BPL
ELOVL4
NPC2
WNK1
PINK1
CAPN1
COG5
PUM1
CASK
SNX14
DNAJC6
CHCHD10
BSCL2
KMT2B
ABHD12
PANK2
NOP56
PLCB1
TOE1
APTX
CCT5
SLC52A3
DNAJC5
TGM6
PNPLA6
PARK7
NLRP3
RAB39B
CIZ1
COQ8A
MFN2
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
ARX
DEPDC5
SPART
CPT1C
LRRK2
PMPCA
CAMTA1
IFIH1
GBA2
COQ8B
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
UPF3B
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
CLN8
THAP1
SLC39A14
SLC39A8
AARS2
FA2H
PDHX
RARS2
NHLRC1
KLC4
RNF216
COL4A1
COL6A3
AP5Z1
COQ7
ADAR
CP
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13C
VPS13D
ADCY5
PACS2
PTRH2
TACO1
CSF1R
MMACHC
SIL1
FLVCR1
CSTB
VPS37A
MARS2
TMEM240
SLC25A46
COQ2
COQ9
SLC30A10
RNF170
C19orf12
VAC14
ANO10
MTPAP
DARS2
VPS53
CWF19L1
RNASEH2B
KCTD17
PGAP1
COA7
DCAF17
REEP1
SRD5A3
WDR73
RETREG1
TTC19
CYP27A1
CYP7B1
HGSNAT
ZFYVE27
WDR81
MTRFR
COX20
DBT
DCTN1
IBA57
TSEN54
SLC6A19
TSEN2
B3GALNT2
DNAJC12
WDR45
DLAT
WASHC5
RUBCN
ABCA1
DDHD2
TOR1AIP1
MSTO1
DNM2
DNMT1
COASY
PIK3R5
POLR3A
ATP13A2
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
TOR1A
AFG3L2
ECHS1
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ENTPD1
PTRHD1
EPM2A
ERCC4
ETFA
ETFB
ETFDH
FGF14
FMR1
FOLR1
FXN
FTL
GAD1
GALC
B4GALNT1
GAN
GBA1
GBE1
GCDH
GCH1
GFAP
GLRA1
GLRB
GNAL
GNAO1
GNB1
ALS2
GOSR2
GPAA1
SETX
AMACR
GPR88
GRID2
GRIN1
GRM1
GRN
AMPD2
ABCB7
HEXA
HEXB
HPCA
HSD17B4
HSPD1
AP1S2
AP4B1
AP4E1
AP4M1
AP4S1
APOB
ABCD1
ITPR1
IVD
KCNA1
KCNA2
KCNA4
KCNC3
KCND3
KCNJ10
KCNMA1
KCNQ2
KIF1C
KIF5A
L1CAM
ARG1
MAG
MARS1
ARL6IP1
MID1
ARSA
MRE11
MT-ATP6
MTHFR
ASL
MTTP
ASS1
ATCAY
NOTCH3
NPC1
ATM
NRAS
ATP1A2
ATP1A3
NT5C2
OPA1
OPA3
OPHN1
OTC
PRKN
PAX2
PAX6
ATP7B
CHMP1A
PDE2A
PDE8B
PDHA1
PDYN
PEX16
PEX6
PEX7
KIF1A
AUH
PHYH
PLA2G6
PLP1
PMPCB
EXOSC9
PNKD
PNKP
PODXL
POLG
PPP2R2B
PRKCG
PRKRA
PRNP
SLC33A1
ALDH18A1
BCKDHA
BCKDHB
RELN
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
Erbliche Tumorerkrankungen, umfassende Diagnostik ID 093.04 | >25kb

Gen Panel (172 Gene )

RIT1
RPS20
RUNX1
BLM
SDHA
SDHB
SDHC
SDHD
SEC23B
SEMA4A
BMPR1A
SFTPA1
BRAF
SLC25A11
BRCA1
BRCA2
SMARCA4
SMARCB1
SMARCE1
SOS1
SPINK1
SRP72
STK11
SUCLG2
BUB1
BUB1B
EPCAM
TERC
TERT
NKX2-1
TP53
EGLN1
TSC1
TSC2
VHL
WT1
XRCC2
IKZF1
SAMD9
SAMD9L
EGLN2
CASR
CBL
SHOC2
RTEL1
MCM8
SUFU
CHEK2
KIF1B
CDC73
CTR9
WWP1
DICER1
POT1
SRGAP1
CDH1
CDK4
CDKN1B
CDKN1C
CDKN2A
CDKN2B
RABL3
CEBPA
RNF43
DDX41
CFTR
TERF2IP
GALNT12
GREM1
SPRED1
BRIP1
FANCL
MCM9
FANCM
SLX4
ACD
CTNNA1
CTRC
FANCI
SDHAF2
TMEM127
PALB2
PARP1
FLCN
DIS3L2
DLST
FAN1
ANKRD26
DNMT3A
CEP57
EGFR
EPAS1
ERBB2
ESR2
ETV6
MECOM
EZH2
AIP
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FH
FOXE1
AKT1
GATA2
ALK
GNAS
GOT2
GPC3
GPC4
H3-3A
HABP2
HOXB13
HRAS
APC
KIT
KRAS
LZTR1
SMAD4
MAP2K1
MAP2K2
MAX
MBD4
MC1R
MDH2
MEN1
MERTK
MET
MITF
MLH1
MLH3
KMT2D
MRE11
MSH2
MSH3
MSH6
TRIM37
MUTYH
NBN
NF1
NF2
ATM
NRAS
NTHL1
PAX5
PDGFRA
PIK3CA
AXIN2
PMS2
PHOX2B
POLD1
POLE
PRKAR1A
PRSS1
BAP1
BARD1
PTCH1
PTCH2
PTEN
PTPN11
RAD50
RAD51C
RAD51D
RAF1
RB1
RECQL4
REST
RET
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
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.08 | >25kb

Gen Panel (299 Gene )

RYR1
SACS
BIN1
SARS1
SBF1
SCN10A
SCN11A
SCN4A
SCN9A
SCO2
SGCA
SGCB
SGCD
SGCG
SGPL1
DST
SLC12A6
SLC16A2
SLC25A1
SMN1
SNAP25
SOD1
SORD
SPG11
ATL1
SPAST
SPTLC1
SPTLC2
SQSTM1
STIM1
SURF1
SYT2
TARDBP
TBK1
TCAP
TFG
TIA1
TK2
TNNT1
TNNT2
TNNT3
TNXB
TPM2
TPM3
TRIP4
TTN
TTR
TUBA4A
UBA1
UBQLN2
VAPB
VCP
VRK1
YARS1
ACTA1
RXYLT1
AAAS
PRX
PRDM12
SLC5A7
ARHGEF10
CCDC78
JPH1
SLC25A21
WNK1
CAPN3
DNAJB5
CASQ1
MICU1
CHCHD10
B4GAT1
BSCL2
RBCK1
ABHD12
NDUFAF5
GDAP1
TRIM2
SELENON
LIMS2
CCT5
SLC52A3
SPTLC3
TRIM32
KIF1B
LITAF
FIG4
MFN2
CD59
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
TNPO3
OPTN
BICD2
CLCF1
CADM3
EXOSC3
FKRP
TRPV4
MYO18B
FKBP14
CFL2
TDP1
CHAT
FGD4
POMGNT1
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
POMT2
TECPR2
AARS1
SLC25A26
GNB4
TUBB3
SBF2
CNTN1
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
COLQ
ADAR
COX10
COX6A1
KLHL13
GMPPB
UNC13A
ALG2
MYH14
DOLK
DHTKD1
MORC2
CRLF1
INF2
PTRH2
ASCC1
ATL3
CHMP2B
HYCC1
SIL1
DCAF8
CTDP1
LRSAM1
SLC25A46
COA7
LAS1L
TRAPPC11
REEP1
ORAI1
POMGNT2
RETREG1
CYP27A1
POMK
PIEZO2
KY
DOK7
DAG1
MTRFR
DCTN1
DCTN2
ANO5
DES
ALG14
B3GALNT2
FBXO38
MED25
ABCA1
PLEKHG5
DMD
EPG5
SH3TC2
TOR1AIP1
DYNC1H1
MEGF10
DNM2
DNMT1
DPAGT1
DPM1
DPM2
DPM3
HSPB8
SLC52A2
PREPL
DRP2
POLR3B
KLHL40
VWA1
DYSF
TYMP
EGR2
AGRN
EMD
FBLN5
FKTN
FHL1
KBTBD13
CRPPA
FXN
FUS
GAA
GALC
GAN
GARS1
GBE1
GBF1
GFPT1
GJB1
GLA
GLDC
ALS2
SETX
AMACR
GSN
GYG1
HADHA
HADHB
HARS1
ANG
HEXA
HINT1
HK1
TRPA1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
DNAJB2
HSPB1
HSPB3
ANXA11
IFRD1
IGHMBP2
ELP1
ITGA7
ITPR3
JAG1
KARS1
KIF5A
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
LRP4
SMAD3
MARS1
MATR3
MCM3AP
MME
MPV17
MPZ
SEPTIN9
ASAH1
MTM1
MTMR2
MUSK
MYH7
MYO9A
NAGLU
NDRG1
NEB
NEFH
NEFL
NEK1
NGF
ATM
ATP1A1
CNTNAP1
NTRK1
SIGMAR1
ATP7A
AIFM1
PDHA1
PDK3
PEX12
KIF1A
PFN1
PLEC
PLP1
PMP2
PMP22
PNKP
POLG
POMT1
BAG3
PRPS1
CAVIN1
RAB7A
RAPSN