Gen-Panel
Kleinwuchs, umfassende Diagnostik: ID340.02, 207 Gene
ACAN,
ACP5,
ACTB,
ACTG1,
AGPS,
ALPL,
AMMECR1,
ANKRD11,
ARCN1,
ARSB,
ATR,
B3GALT6,
B3GAT3,
B4GALT7,
BCS1L,
BGN,
BLM,
BMP2,
BMPR1B,
BRAF,
BRCA1,
BRCA2,
BRIP1,
BTK,
CBL,
CCDC8,
CDC6,
CDC45,
CDKN1C,
CDT1,
CEP63,
CEP152,
CFAP410,
COL2A1,
COL10A1,
COL11A2,
COL27A1,
COMP,
CPAP,
CREBBP,
CRIPT,
CSGALNACT1,
CUL7,
DDR2,
DDRGK1,
DHCR7,
DNA2,
DONSON,
DPH1,
EP300,
ERCC4,
ERCC6,
ERCC8,
EXOC6B,
EXOSC2,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
FGD1,
FGFR1,
FGFR3,
FLNB,
FN1,
GALNS,
GDF5,
GH1,
GHR,
GHRHR,
GHSR,
GLB1,
GLI2,
GMNN,
GNPAT,
GPX4,
GRHL2,
GSC,
GUSB,
GZF1,
HDAC8,
HESX1,
HMGA2,
HRAS,
HYAL1,
IDUA,
IGF1,
IGF1R,
IGF2,
IGFALS,
INSR,
IRS1,
IRS4,
KIF22,
KMT2A,
KRAS,
LARP7,
LFNG,
LHX3,
LHX4,
LTBP3,
LZTR1,
MAD2L2,
MAP2K1,
MAP2K2,
MAPK1,
MCM5,
MRAS,
NBAS,
NBN,
NIN,
NIPBL,
NKX2-5,
NKX3-2,
NOTCH2,
NPR2,
NRAS,
NSMCE2,
OBSL1,
ORC1,
ORC4,
ORC6,
OTX2,
PALB2,
PAM16,
PAPPA2,
PAX8,
PCNT,
PEX5,
PEX7,
PHEX,
PIK3R1,
PISD,
PLAG1,
PLCB3,
POC1A,
POLR3GL,
POP1,
POU1F1,
PPP1CB,
PPP1R15B,
PPP3CA,
PRKG2,
PRMT7,
PROP1,
PTH1R,
PTPN11,
PUS7,
RAD21,
RAD51,
RAD51C,
RAF1,
RBBP8,
RFWD3,
RIT1,
RMP64,
RMRP,
RNPC3,
RNU4ATAC,
ROBO1,
RPL13,
RRAS2,
RSPRY1,
RTTN,
SCUBE3,
SGMS2,
SHOC2,
SHOX,
SLC10A7,
SLC26A2,
SLX4,
SMARCA2,
SMC1A,
SMC3,
SOS1,
SOS2,
SOX2,
SOX3,
SPRED2,
SRCAP,
STAT5B,
TALDO1,
TBCE,
TBL1X,
TBX2,
TBX15,
TBX19,
THRA,
TKT,
TONSL,
TOP3A,
TRAIP,
TRAPPC2,
TRHR,
TRIM37,
TRIP11,
TRMT10A,
TRPV4,
TSHB,
TSHR,
UBE2T,
XRCC2,
XRCC4
Inkludierte Phänotypen
Kongenitale Hypothyreose (CHNG): 8 Gene
IRS4,
NKX2-5,
PAX8,
TBL1X,
THRA,
TRHR,
TSHB,
TSHR
Meier-Gorlin-Syndrom (MGORS): 8 Gene
CDC6,
CDC45,
CDT1,
GMNN,
MCM5,
ORC1,
ORC4,
ORC6
Noonan-Syndrom (NS): 16 Gene
BRAF,
CBL,
KRAS,
LZTR1,
MAPK1,
MRAS,
NRAS,
PPP1CB,
PTPN11,
RAF1,
RIT1,
RRAS2,
SHOC2,
SOS1,
SOS2,
SPRED2
Seckel-Syndrom (SCKL): 9 Gene
ATR,
CEP63,
CEP152,
CPAP,
DNA2,
NIN,
NSMCE2,
RBBP8,
TRAIP
Skelettdysplasie (SED, SMD, AMD): 35 Gene
ACAN,
B3GALT6,
BGN,
BMPR1B,
CFAP410,
COL2A1,
COL11A2,
COMP,
DDR2,
DDRGK1,
EXOC6B,
FGFR3,
FN1,
GDF5,
GPX4,
KIF22,
NKX3-2,
NPR2,
PAM16,
PAPSS2,
PISD,
PLCB3,
POP1,
PRKG2,
RMP64,
RMRP,
RNU4ATAC,
RPL13,
RSPRY1,
SIK3,
SLC26A2,
TONSL,
TRAPPC2,
TRIP11,
TRPV4
Wachstumshormonmangel (IGHD, CPHD): 14 Gene
BTK,
GH1,
GHRHR,
GHSR,
GLI2,
HESX1,
LHX3,
LHX4,
OTX2,
POU1F1,
PROP1,
RNPC3,
ROBO1,
SOX3