ABRAXAS1 | ACD | ADA2 | ADH5 | AIP |
AKT1 | ALDH2 | ALK | AMER1 | ANAPC1 |
ANKRD26 | APC | APTX | AR | ARID1A |
ASXL1 | ATM | ATR | ATRX | AXIN2 |
BAP1 | BARD1 | BLM | BMPR1A | BRAF |
BRCA1 | BRCA2 | BRIP1 | BTK | BUB1B |
CASP10 | CASP8 | CASR | CBL | CCND1 |
CDC73 | CDCA7 | CDH1 | CDH23 | CDK4 |
CDKN1B | CDKN1C | CDKN2A | CDKN2B | CEBPA |
CEP57 | CHEK2 | CLPB | CSF3R | CTC1 |
CTLA4 | CTNNA1 | CTR9 | CTRC | CYLD |
CYP3A43 | DCLRE1B | DCLRE1C | DDB2 | DDX41 |
DICER1 | DIS3L2 | DKC1 | DLST | DNA2 |
DNAJC21 | DNMT3A | DNMT3B | DUT | EFL1 |
EGFR | EHBP1 | ELAC2 | ELANE | ELP1 |
ENOSF1 | EPCAM | ERBB2 | ERCC1 | ERCC2 |
ERCC3 | ERCC4 | ERCC5 | ERCC6 | ERCC6L2 |
ERCC8 | ETV6 | EXO1 | EXT1 | EXT2 |
EZH2 | FAH | FAN1 | FANCA | FANCB |
FANCC | FANCD2 | FANCE | FANCF | FANCG |
FANCI | FANCL | FANCM | FAS | FASLG |
FGFR3 | FH | FLCN | FOXE1 | G6PC3 |
GALNT12 | GATA1 | GATA2 | GDNF | GEN1 |
GFI1 | GNAS | GPC3 | GPC4 | GPR101 |
GPR161 | GREM1 | GTF2E2 | GTF2H5 | HABP2 |
HAVCR2 | HAX1 | HCLS1 | HEATR3 | HELLS |
HERC2 | HFM1 | HNF1A | HNF1B | HOXB13 |
HRAS | IKZF1 | JAGN1 | JAK2 | KDM1A |
KIF1B | KIT | KLHDC8B | KRAS | LAPTM5 |
LIG1 | LIG3 | LIG4 | LZTR1 | MAD2L2 |
MAP2K1 | MAP2K2 | MAP2K5 | MAPK1 | MAX |
MBD4 | MC1R | MDH2 | MDM4 | MECOM |
MEN1 | MET | MGMT | MINPP1 | MITF |
MLH1 | MLH3 | MPLKIP | MRAS | MRE11 |
MSH2 | MSH3 | MSH4 | MSH5 | MSH6 |
MSR1 | MTAP | MUTYH | MYD88 | MYSM1 |
NAF1 | NBN | NDUFA13 | NF1 | NF2 |
NHEJ1 | NHP2 | NKX2-1 | NOP10 | NRAS |
NSD1 | NTHL1 | NTRK1 | OGG1 | PALB2 |
PALLD | PARK7 | PARN | PAX5 | PBRM1 |
PCNA | PDGFRA | PHOX2B | PIK3CA | PLA2G2A |
PMS1 | PMS2 | PNKP | POLA1 | POLD1 |
POLE | POLG | POLH | POT1 | POU6F2 |
PRF1 | PRIMPOL | PRKAR1A | PRKCD | PRKDC |
PRKN | PRSS1 | PTCH1 | PTCH2 | PTEN |
PTPN11 | RABL3 | RAD50 | RAD51 | RAD51B |
RAD51C | RAD51D | RAD54B | RAD54L | RAF1 |
RASA2 | RB1 | RBBP6 | RBBP8 | RBM8A |
RECQL | RECQL4 | REST | RET | RFC1 |
RFWD3 | RHBDF2 | RINT1 | RIT1 | RNASEL |
RNF139 | RNF168 | RNF43 | RPA1 | RPL11 |
RPL15 | RPL18 | RPL26 | RPL27 | RPL35 |
RPL35A | RPL5 | RPS10 | RPS15A | RPS19 |
RPS20 | RPS24 | RPS26 | RPS27 | RPS28 |
RPS29 | RPS7 | RRAS2 | RRM2B | RTEL1 |
RUNX1 | SAMD9 | SAMD9L | SBDS | SDHA |
SDHAF2 | SDHB | SDHC | SDHD | SEC23B |
SH2B3 | SH2D1A | SHOC2 | SLC25A11 | SLX4 |
SMAD4 | SMAD7 | SMARCA4 | SMARCB1 | SMARCE1 |
SMC5 | SOS1 | SOS2 | SPIDR | SPINK1 |
SPRED1 | SPRTN | SQSTM1 | SRGAP1 | SRP54 |
SRP72 | STAT3 | STK11 | STN1 | SUFU |
TBXT | TDP1 | TDP2 | TERC | TERF2IP |
TERT | TGFBR2 | TINF2 | TMEM127 | TNFRSF11A |
TOP3A | TP53 | TREX1 | TRIM28 | TRIM37 |
TRIP13 | TRRAP | TSC1 | TSC2 | TSR2 |
TYMS | TYR | UBE2A | UBE2T | UNC13D |
UNG | USB1 | USP8 | USP45 | UVSSA |
VHL | VPS45 | WAS | WRAP53 | WRN |
WT1 | WWP1 | XPA | XPC | XRCC1 |
XRCC2 | XRCC3 | XRCC4 | ZBTB24 | ZCCHC8 |
ZNF687 | ZSWIM7 |
Download:Formulare zur Probeneinsendung
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.
ABRAXAS1, ACD, ADA2, ADH5, AIP, AKT1, ALDH2, ALK, AMER1, ANAPC1, ANKRD26, APC, APTX, AR, ARID1A, ASXL1, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BTK, BUB1B, CASP10, CASP8, CASR, CBL, CCND1, CDC73, CDCA7, CDH1, CDH23, CDK4, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CEBPA, CEP57, CHEK2, CLPB, CSF3R, CTC1, CTLA4, CTNNA1, CTR9, CTRC, CYLD, CYP3A43, DCLRE1B, DCLRE1C, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNA2, DNAJC21, DNMT3A, DNMT3B, DUT, EFL1, EGFR, EHBP1, ELAC2, ELANE, ELP1, ENOSF1, EPCAM, ERBB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ETV6, EXO1, EXT1, EXT2, EZH2, FAH, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FGFR3, FH, FLCN, FOXE1, G6PC3, GALNT12, GATA1, GATA2, GDNF, GEN1, GFI1, GNAS, GPC3, GPC4, GPR101, GPR161, GREM1, GTF2E2, GTF2H5, HABP2, HAVCR2, HAX1, HCLS1, HEATR3, HELLS, HERC2, HFM1, HNF1A, HNF1B, HOXB13, HRAS, IKZF1, JAGN1, JAK2, KDM1A, KIF1B, KIT, KLHDC8B, KRAS, LAPTM5, LIG1, LIG3, LIG4, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAP2K5, MAPK1, MAX, MBD4, MC1R, MDH2, MDM4, MECOM, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MPLKIP, MRAS, MRE11, MSH2, MSH3, MSH4, MSH5, MSH6, MSR1, MTAP, MUTYH, MYD88, MYSM1, NAF1, NBN, NDUFA13, NF1, NF2, NHEJ1, NHP2, NKX2-1, NOP10, NRAS, NSD1, NTHL1, NTRK1, OGG1, PALB2, PALLD, PARK7, PARN, PAX5, PBRM1, PCNA, PDGFRA, PHOX2B, PIK3CA, PLA2G2A, PMS1, PMS2, PNKP, POLA1, POLD1, POLE, POLG, POLH, POT1, POU6F2, PRF1, PRIMPOL, PRKAR1A, PRKCD, PRKDC, PRKN, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RASA2, RB1, RBBP6, RBBP8, RBM8A, RECQL, RECQL4, REST, RET, RFC1, RFWD3, RHBDF2, RINT1, RIT1, RNASEL, RNF139, RNF168, RNF43, RPA1, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RRAS2, RRM2B, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMAD7, SMARCA4, SMARCB1, SMARCE1, SMC5, SOS1, SOS2, SPIDR, SPINK1, SPRED1, SPRTN, SQSTM1, SRGAP1, SRP54, SRP72, STAT3, STK11, STN1, SUFU, TBXT, TDP1, TDP2, TERC, TERF2IP, TERT, TGFBR2, TINF2, TMEM127, TNFRSF11A, TOP3A, TP53, TREX1, TRIM28, TRIM37, TRIP13, TRRAP, TSC1, TSC2, TSR2, TYMS, TYR, UBE2A, UBE2T, UNC13D, UNG, USB1, USP8, USP45, UVSSA, VHL, VPS45, WAS, WRAP53, WRN, WT1, WWP1, XPA, XPC, XRCC1, XRCC2, XRCC3, XRCC4, ZBTB24, ZCCHC8, ZNF687, ZSWIM7
* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar
3 - 5 ml EDTA-Blut
4 - 6 Wochen
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant.
Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
Stand: 28.02.2025