We have detected you are coming from a location outside of Germany.
Wir haben festgestellt, dass Sie von einem Standort außerhalb Deutschlands auf diese Seite gelangt sind.

Please select your preferred language:
Bitte wählen Sie eine der folgenden Sprachoptionen:
German Flag
German
English Flag
English

Terminvereinbarung

Sprechstunden/ Spezialsprechstunden am MGZ

Formulare/Service

Downloads
Uploads
Bestellservice

Hinweise für Einsender

oder direkt persönlich unter
089 / 30 90 886-0

PTCH1

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 601309

Gen-Panel-Analysen, die PTCH1 enthalten

Erbliche Tumorerkrankungen, umfassende Diagnostik ID 093.03 | >25kb

Gen Panel (171 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
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
H3F3A
HABP2
HOXB13
HRAS
APC
KIT
KRAS
LZTR1
SMAD4
MAP2K1
MAP2K2
MAX
MBD4
MC1R
MDH2
MEN1
MERTK
MET
MITF
MLH1
MLH3
KMT2D
MRE11A
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
Hirnfehlbildungen / neuronale Migrationsstörungen - Gesamtpanel ID 144.05 | >25kb

Gen Panel (280 Gene )

RPL10
RPS6KA3
SGCE
SGSH
SHH
STIL
SIX3
SLC16A2
SLC2A1
SLC6A3
SLC6A8
SLC9A6
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMS
SOX3
SPR
SPTAN1
CDKL5
STUB1
STXBP1
SYN1
SYNGAP1
SYNJ1
SYP
TBCD
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
SLC19A3
EFHC1
RAB39B
SCARB2
CLP1
PRICKLE1
MLC1
CDON
CENPJ
BRWD3
NDE1
PORCN
CDK5
EXOSC3
ARID2
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
ZFYVE26
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
DNAJC12
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
AP4B1
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
PDHA1
PGK1
PHGDH
PIK3CA
PIK3R2
PLA2G6
PNKP
PPT1
PQBP1
HTRA1
PTCH1
PTEN
QARS
RAD21
RBM10
RELN
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)