Multigen-Diagnostik

Panel-Nummer: ID340.02

Gene (207)

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel ID340.02

Kleinwuchs, umfassende Diagnostik: 207 Gene (511,0 kb)

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, CDC45, CDC6, CDKN1C*^,**, CDT1, CENPJ*^,**, CEP152*, CEP63, CFAP410, COL10A1, COL11A2, COL27A1, COL2A1*^,**, COMP, 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*, NEPRO, 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*, 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, TBX15, TBX19, TBX2, THRA, TKT, TONSL, TOP3A, TRAIP, TRAPPC2, TRHR, TRIM37, TRIP11, TRMT10A , TRPV4, TSHB, TSHR, UBE2T, XRCC2, XRCC4    

Wachstumshormonmangel (IGHD, CPHD): 14 Gene (23,0 kb)

BTK*^,**, GH1*^,**, GHRHR**, GHSR, GLI2, HESX1*^,**, LHX3**, LHX4**, OTX2, POU1F1**, PROP1**, RNPC3*, ROBO1, SOX3*

Noonan-Syndrom (NS): 16 Gene (27,4 kb)

BRAF*^,**, CBL, KRAS*^,**, LZTR1*^,**, MAPK1, MRAS*, NRAS*^,**, PPP1CB, PTPN11*, RAF1*, RIT1*, RRAS2, SHOC2*, SOS1*, SOS2*, SPRED2

Meier-Gorlin-Syndrom (MGORS): 8 Gene (12,6 kb)

CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6

Seckel-Syndrom (SCKL): 9 Gene (33,5 kb)

ATR*^,**, CENPJ*^,**, CEP152*, CEP63, DNA2, NIN, NSMCE2, RBBP8, TRAIP

Kongenitale Hypothyreose (CHNG): 8 Gene (13,0 kb)

IRS4, NKX2-5*, PAX8, TBL1X, THRA, TRHR, TSHB, TSHR

Skelettdysplasie (SED, SMD, AMD): 35 Gene (83,9 kb)

ACAN, B3GALT6*, BGN, BMPR1B, CFAP410, COL11A2, COL2A1*^,**, COMP, DDRGK1, DDR2, EXOC6B, FGFR3*^,**, FN1, GDF5, GPX4, KIF22, NEPRO, NKX3-2, NPR2, PAM16, PAPSS2, PISD, PLCB3, RMRP, RNU4ATAC, POP1, PRKG2, RPL13, RSPRY1, SIK3, SLC26A2*, TONSL, TRAPPC2, TRIP11, TRPV4*

^{* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar}

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen