Multigen-Diagnostik

Panel-Nummer: ID018.03

Gene (190)

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 ID018.03

Erbliche Tumorerkrankungen, umfassende Diagnostik: 190 Gene (454,1 kb)

ABRAXAS1, ACD, AIP, AKT1*, ALK, ANAPC1, ANKRD26, APC*^,**, ATM*^,**, ATR*^,**, AXIN2*, BAP1, BARD1*^,**, BLM, BMPR1A*^,**, BRAF*^,**, BRCA1*^,**, BRCA2*^,**, BRIP1*^,**, BUB1B*, CBL, CCND1, CDC73, CDH1*^,**, CDK4*, CDKN1B, CDKN1C*^,**, CDKN2A*^,**, CEBPA, CEP57, CHEK2*^,**, CYLD*, DDB2, DDX41*, DICER1, DIS3L2, DKC1, DLST, EFL1, EGFR*, ELAC2, ELP1*, EPCAM**, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1*^,**, EXT2*^,**, EZH2*, FANCA, FANCB, FANCC*, FANCD2*^,**, FANCE, FANCF, FANCG, FANCI*, FANCL, FANCM, FH*^,**, FLCN*^,**, FOXE1, GALNT12, GATA2, GPC3*^,**, GREM1, HABP2, HAVCR2, HNF1A*^,**, HNF1B*^,**, HOXB13*, HRAS*^,**, IKZF1, KIF1B, KIT*^,**, KRAS*^,**, LZTR1*^,**, MAD2L2, MAP2K1*, MAP2K2*, MAPK1, MAX, MC1R*, MEN1*^,**, MET*, MINPP1, MITF, MLH1*^,**, MLH3*, MRAS*, MRE11, MSH2*^,**, MSH3, MSH6*^,**, MUTYH*^,**, NBN*, NDUFA13, NF1*^,**, NF2*^,**, NKX2-1, NOP10, NHP2, NRAS*^,**, NSD1*^,**, NTHL1, PALB2*^,**, PALLD, PARN, PAX5, PCNA, PDGFRA, PHOX2B*^,**, PIK3CA*, PMS1*, PMS2*^,**, POLD1*, POLE*, POLH, POT1*, PRKAR1A, PTCH1*^,**, PTCH2*, PTEN*^,**, PTPN11*, RABL3, RAD50, RAD51, RAD51C*^,**, RAD51D*, RAF1*, RASA2, RB1*, RECQL, RECQL4, REST, RET*^,**, RFWD3, RHBDF2, RINT1, RIT1*, RNASEL, RNF139, RNF43*, RPS20, RRAS2, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA*^,**, SDHAF2**, SDHB*, SDHC**, SDHD*, SEC23B*, SHOC2*, SLC25A11, SLX4, SMAD4*^,**, SMARCA4, SMARCB1*^,**, SMARCE1, SOS1*, SOS2*, SPRED1*^,**, SRGAP1, STK11*^,**, SUFU*, TERT, TINF2, TMEM127, TOP3A, TP53*^,**, TRIM28, TRIM37, TRIP13, TSC1*^,**, TSC2*^,**, UBE2T, VHL*^,**, WRAP53, WRN, WT1*^,**, XPA, XPC, XRCC2, XRCC3

Krebserkrankungen im Kindesalter: 128 Gene (317,3 kb)

ACD, ALK, APC*^,**, ATM*^,**, BAP1, BLM, BMPR1A*^,**, BRAF*^,**, BRCA1*^,**, BRCA2*^,**, BRIP1*^,**, BUB1B*, CBL, CDC73, CDKN1C*^,**, CDKN2A*^,**, CEBPA, CEP57, CHEK2*^,**, DDB2, DDX41*, DICER1, DIS3L2, DKC1, DLST, EFL1, ELP1*, EPCAM**, 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*^,**, MAP2K1*, MAP2K2*, MAPK1, MRAS*, MAX, MEN1*,**, MLH1*,**, MSH2*,**, MSH6*,**, MUTYH*^,**, NBN*, NF1*^,**, NF2*^,**, NKX2-1, NOP10, NHP2, NRAS*^,**, NSD1*^,**, PALB2*^,**, PARN, PAX5, PHOX2B*^,**, PMS2*^,**, POLH, PRKAR1A, PTCH1*^,**, PTCH2*, PTEN*^,**, PTPN11*, RAD51, RAD51C*^,**, RAF1*, RB1*, RECQL4, REST, RET*^,**, RIT1*, RRAS2, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA*^,**, SDHAF2**, SDHB*, SDHC**, SDHD*,  SHOC2*, SLC25A11, SLX4, SMAD4*^,**, SMARCA4, SMARCB1*^,**, SOS1*, SOS2*, STK11*^,**, SUFU*, TERT, TMEM127, TINF2, TP53*^,**, TRIM28, TRIM37, TRIP13, TSC1*^,**, TSC2*^,**, UBE2T, VHL*^,**, WRAP53, WRN, WT1*^,**, XPA, XPC

Krebserkrankungen im Erwachsenenalter: 131 Gene (309,8 kb)

AKT1*, APC*^,**, ATM*^,**, BAP1, BARD1*^,*, BMPR1A*^,**, BRAF*^,**, BRCA1*^,**, BRCA2*^,**, BRIP1*^,**, CBL, CDC73, CDH1*^,**, CDK4*, CDKN1B, CDKN2A*^,**, CHEK2*^,**, DDB2, DICER1, DLST, EGFR, ELAC2, EPCAM**, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC*, FANCD2*^,**, FANCE, FANCF, FANCG, FANCI*, FANCL, FH*^,**, FLCN*^,**, FOXE1, GALNT12, GPC3, GREM1, HABP2, HNF1A*^,**, HNF1B*^,**, HOXB13*, HRAS*^,**, KIF1B, KIT*^,**, KRAS*^,**, LZTR1*^,**, MAD2L2, MAP2K1*, MAP2K2*, MAPK1, MAX, MC1R*, MEN1*^,**, MET*, MINPP1, MITF, MLH1*^,**, MLH3*, MRAS*, MSH2*^,**, MSH3, MSH6*^,**, MUTYH*^,**, NF1*^,**, NF2*^,**, NKX2-1, NRAS*^,**, NTHL1, PALB2*^,**, PDGFRA, PIK3CA*, PMS1*, PMS2*^,**, POLD1*, POLE*, POLH, POT1*, PTCH1*^,**, PTCH2*, PTEN*^,**, PTPN11*, RABL3, RAD51, RAD51C*^,**, RAD51D*, RAF1*, RB1*, RET*,**, RFWD3, RHBDF2, RIT1*, RNASEL, RNF139, RNF43*, RRAS2, RTEL1, SDHA*^,**, SDHAF2**, SDHB*, SDHC**, SDHD*, SEC23B*, SHOC2*, SLC25A11, SLX4, SMAD4*^,**, SMARCA4, SMARCB1*^,**, SOS1*, SOS2*, SRGAP1, STK11*^,**, SUFU*, TERT, TMEM127, TP53*^,**, TSC1*^,**, TSC2*^,**, UBE2T, VHL*^,**, WRAP53, WT1*^,**, XPA, XPC, XRCC2, XRCC3

^{* 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