Multigen-Diagnostik

Panel-Nummer: ID333.00

Gene (139)

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 ID333.00

Krebserkrankungen im Kindesalter: 139 Gene (341,1kb)

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, MRAS*, MAX, MEN1*^,**, MLH1*^,**, MSH2*^,**, MSH6*^,**, MUTYH*^,**, NBN*, NF1*^,**, NF2*^,**, NKX2-1, NOP10, NHP2, 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, TMEM127, TINF2, TP53*^,**, TRIM28, TRIM37, TRIP13, TSC1*^,**, TSC2*^,**, UBE2T, VHL*^,**, WRAP53, WRN, WT1*^,**, XPA, XPC, XRCC2

Maligne hämatologische Erkrankungen: 49 Gene (126,4 kb)

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

Tumoren des Zentralnervensystems: 32 Gene (111,9 kb)

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*^,**

Endokrine Tumoren: 15 Gene (21,2 kb)

CDC73, CDKN1B, DLST, KIF1B, MAX**, MEN1*^,**, RET*^,**, SDHA*^,**, SDHAF2, SDHB*, SDHC*, SDHD*, SLC25A11, TMEM127, VHL*^,**

RASopathien: 18 Gene (36,6 kb)

BRAF*^,**, CBL, HRAS*^,**, KRAS*^,**, LZTR1*^,**, MAP2K1*, MAP2K2*, MAPK1, MRAS*, NF1*^,**, NRAS*^,**, PTPN11*, RAF1*, RIT1*, RRAS2, SHOC2*, SOS1*, SOS2*

Wilms-Tumor (WT): 10 Gene (29,5 kb)

BRCA2*^,**, CDKN1C*^,**, GPC3*^,**, DIS3L2, POU6F2, TRIM28, WT1*^,**, TRIM37, CDC73, REST

Xeroderma pigmentosum (XP): 9 Gene (19,0 kb)

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

MMR-Defizienz-Syndrom (MMRCS): 5 Gene (12,7 kb)

MLH1*^,**, MSH2*^,**, PMS2*^,**, MSH6*^,**, EPCAM**

Li-Fraumeni-Syndrom (LFS): 2 Gene (2,8 kb)

CHEK2*^,**, TP53*^,**

^{* 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