Gen-Panel
Krebserkrankungen im Kindesalter: ID333.00, 139 Gene
ACD,
ALK,
ANKRD26,
APC,
ATM,
BAP1,
BLM,
BMPR1A,
BRAF,
BRCA1,
BRCA2,
BRIP1,
BUB1B,
CBL,
CDC73,
CDKN1B,
CDKN1C,
CDKN2A,
CEBPA,
CEP57,
CHEK2,
DDB2,
DDX41,
DICER1,
DIS3L2,
DKC1,
DLST,
DNAJC21,
EFL1,
ELANE,
ELP1,
EPCAM,
ERCC1,
ERCC2,
ERCC3,
ERCC4,
ERCC5,
ETV6,
EXT1,
EXT2,
EZH2,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
FANCM,
FH,
GATA2,
GPC3,
HRAS,
IKZF1,
KIF1B,
KRAS,
LZTR1,
MAD2L2,
MAP2K1,
MAP2K2,
MAPK1,
MAX,
MEN1,
MLH1,
MRAS,
MSH2,
MSH6,
MUTYH,
NBN,
NF1,
NF2,
NHP2,
NKX2-1,
NOP10,
NRAS,
NSD1,
PALB2,
PARN,
PAX5,
PHOX2B,
PMS2,
POLE,
POLH,
POU6F2,
PRKAR1A,
PTCH1,
PTCH2,
PTEN,
PTPN11,
RAD51,
RAD51C,
RAF1,
RB1,
RECQL4,
REST,
RET,
RFWD3,
RIT1,
RRAS2,
RTEL1,
RUNX1,
SAMD9,
SAMD9L,
SBDS,
SDHA,
SDHAF2,
SDHB,
SDHC,
SDHD,
SHOC2,
SLC25A11,
SLX4,
SMAD4,
SMARCA4,
SMARCB1,
SOS1,
SOS2,
SRP72,
STK11,
SUFU,
TERT,
TINF2,
TMEM127,
TP53,
TRIM28,
TRIM37,
TRIP13,
TSC1,
TSC2,
UBE2T,
VHL,
WRAP53,
WRN,
WT1,
XPA,
XPC,
XRCC2
Inkludierte Phänotypen
Endokrine Tumoren: 15 Gene
CDC73,
CDKN1B,
DLST,
KIF1B,
MAX,
MEN1,
RET,
SDHA,
SDHAF2,
SDHB,
SDHC,
SDHD,
SLC25A11,
TMEM127,
VHL
Maligne hämatologische Erkrankungen: 49 Gene
ACD,
ANKRD26,
ATM,
BLM,
BRCA1,
BRCA2,
BRIP1,
CEBPA,
DDX41,
DKC1,
DNAJC21,
EFL1,
ELANE,
ERCC4,
ETV6,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
GATA2,
IKZF1,
MAD2L2,
NBN,
NHP2,
NOP10,
PALB2,
PARN,
PAX5,
RAD51,
RAD51C,
RFWD3,
RTEL1,
RUNX1,
SAMD9,
SAMD9L,
SBDS,
SLX4,
SRP72,
TERT,
TINF2,
TP53,
UBE2T,
WRAP53,
XRCC2
MMR-Defizienz-Syndrom (CMMRDS, MMRCS): 4 Gene
MLH1,
MSH2,
MSH6,
PMS2
RASopathien: 18 Gene
BRAF,
CBL,
HRAS,
KRAS,
LZTR1,
MAP2K1,
MAP2K2,
MAPK1,
MRAS,
NF1,
NRAS,
PTPN11,
RAF1,
RIT1,
RRAS2,
SHOC2,
SOS1,
SOS2
Tumoren des Zentralnervensystems: 32 Gene
ALK,
APC,
BRCA2,
CDKN2A,
CHEK2,
DICER1,
ELP1,
EPCAM,
ERCC2,
FANCM,
KIF1B,
LZTR1,
MLH1,
MSH2,
MSH6,
NBN,
NF1,
NF2,
PALB2,
PHOX2B,
PMS2,
PTCH1,
PTCH2,
PTEN,
RB1,
SMARCA4,
SMARCB1,
SUFU,
TP53,
TSC1,
TSC2,
VHL
Wilms-Tumor (WT): 10 Gene
BRCA2,
CDC73,
CDKN1C,
DIS3L2,
GPC3,
POU6F2,
REST,
TRIM28,
TRIM37,
WT1
Xeroderma pigmentosum (XP): 9 Gene
DDB2,
ERCC1,
ERCC2,
ERCC3,
ERCC4,
ERCC5,
POLH,
XPA,
XPC
