AAAS | ABCA12 | ABCC6 | ABCC9 | ABHD5 |
ABL1 | ACAD9 | ACADVL | ACAN | ACE |
ACOX1 | ACP5 | ACTA1 | ACTA2 | ACTB |
ACTC1 | ACTG1 | ACTG2 | ACVR2B | ACY1 |
ADAMTS10 | ADAMTS17 | ADAMTS3 | ADAMTSL2 | ADAR |
ADGRG1 | ADGRG6 | ADNP | ADSL | AFF4 |
AGK | AGL | AGPS | AHCY | AHDC1 |
AHI1 | AKT1 | AKT2 | AKT3 | ALDH18A1 |
ALDH1A3 | ALDH3A2 | ALDH7A1 | ALDOA | ALG1 |
ALG12 | ALG2 | ALG3 | ALG6 | ALG8 |
ALG9 | ALMS1 | ALOX12B | ALOXE3 | ALPL |
ALX1 | ALX3 | ALX4 | AMACR | AMER1 |
AMMECR1 | AMPD2 | AMT | ANAPC1 | ANKH |
ANKRD11 | ANKS6 | ANOS1 | ANTXR1 | ANTXR2 |
AP1S2 | AP4E1 | AR | ARCN1 | ARFGEF2 |
ARHGAP29 | ARHGAP31 | ARID1A | ARID1B | ARL13B |
ARL6 | ARMC9 | ARSA | ARSB | ARSL |
ARX | ASAH1 | ASCC1 | ASNS | ASPA |
ASPM | ASS1 | ASXL1 | ATAD3A | ATIC |
ATP1A2 | ATP6V0A2 | ATP7A | ATR | ATRX |
B3GALNT2 | B3GALT6 | B3GAT3 | B3GLCT | B4GALT7 |
B4GAT1 | B9D2 | BBS1 | BBS10 | BBS12 |
BBS2 | BBS4 | BBS5 | BBS7 | BBS9 |
BCAP31 | BCL11A | BCOR | BCS1L | BFSP2 |
BGN | BHLHA9 | BICD2 | BIN1 | BLM |
BLTP1 | BMP1 | BMP2 | BMP4 | BMPER |
BMPR1B | BNC2 | BPNT2 | BRAF | BRAT1 |
BRCA2 | BRIP1 | BRPF1 | BSND | BTD |
BUB1B | C2CD3 | CA2 | CA8 | CACNA1C |
CACNA1E | CACNA1G | CANT1 | CASK | CASR |
CBL | CC2D2A | CCBE1 | CCDC103 | CCDC39 |
CCDC40 | CCDC8 | CCDC88C | CCND2 | CCNQ |
CDAN1 | CDC45 | CDC6 | CDH1 | CDH3 |
CDK13 | CDK5RAP2 | CDK8 | CDKL5 | CDKN1C |
CDON | CDT1 | CELSR1 | CENPF | CENPJ |
CEP104 | CEP120 | CEP135 | CEP152 | CEP164 |
CEP290 | CEP41 | CEP55 | CEP57 | CEP63 |
CEP83 | CERS3 | CERT1 | CFAP298 | CFAP300 |
CFAP410 | CFAP418 | CFAP53 | CFC1 | CFL2 |
CFTR | CHAMP1 | CHAT | CHD4 | CHD7 |
CHKB | CHMP1A | CHRNA1 | CHRNA3 | CHRNB1 |
CHRND | CHRNE | CHRNG | CHST14 | CHST3 |
CHSY1 | CHUK | CILK1 | CIT | CKAP2L |
CLCN7 | CLP1 | CLPB | CNOT1 | CNOT3 |
CNTNAP1 | CNTNAP2 | COASY | COG1 | COG4 |
COG5 | COG6 | COG7 | COG8 | COL10A1 |
COL11A1 | COL11A2 | COL12A1 | COL13A1 | COL18A1 |
COL1A1 | COL1A2 | COL2A1 | COL3A1 | COL4A1 |
COL4A2 | COL6A1 | COL6A2 | COL6A3 | COL9A1 |
COL9A2 | COLEC10 | COLEC11 | COLQ | COQ4 |
COQ9 | COX7B | CPLANE1 | CPT2 | CRADD |
CRB2 | CREB3L1 | CREBBP | CRIPT | CRLF1 |
CRPPA | CRTAP | CRYAA | CRYBA1 | CRYBA4 |
CRYBB1 | CRYBB2 | CRYBB3 | CRYGC | CRYGD |
CSF1R | CSNK2A1 | CSPP1 | CTC1 | CTCF |
CTNNB1 | CTNND1 | CTSA | CTSD | CTSK |
CTU2 | CUL4B | CUL7 | CWC27 | CYP11A1 |
CYP11B1 | CYP17A1 | CYP1B1 | CYP21A2 | CYP26B1 |
CYP2U1 | CYP4F22 | DAG1 | DARS1 | DCHS1 |
DCX | DDR2 | DDX11 | DDX3X | DDX59 |
DENND5A | DHCR24 | DHCR7 | DHFR | DHODH |
DIAPH1 | DIS3L2 | DISP1 | DKC1 | DLL3 |
DLL4 | DLX5 | DMPK | DNAAF1 | DNAAF11 |
DNAAF2 | DNAAF3 | DNAAF4 | DNAAF5 | DNAAF6 |
DNAH11 | DNAH5 | DNAH9 | DNAI1 | DNAI2 |
DNAJB11 | DNAL1 | DNM1L | DNM2 | DNMT3A |
DNMT3B | DOCK6 | DOK7 | DOLK | DONSON |
DPAGT1 | DPM1 | DPM2 | DPM3 | DSP |
DSTYK | DVL1 | DVL3 | DYM | DYNC1H1 |
DYNC2H1 | DYNC2I1 | DYNC2I2 | DYNC2LI1 | DYNLT2B |
DYRK1A | DZIP1L | EBF3 | EBP | ECEL1 |
EDA | EDNRA | EDNRB | EED | EFNB1 |
EFTUD2 | EHMT1 | EIF2AK3 | EIF2B2 | EIF2B3 |
EIF2S3 | EIF4A3 | EIF5A | ELAC2 | ELN |
ELOVL4 | EMD | EML1 | EMX2 | ENPP1 |
EOGT | EP300 | EPG5 | EPHB4 | ERCC1 |
ERCC2 | ERCC3 | ERCC4 | ERCC5 | ERCC6 |
ERCC8 | ERF | ESCO2 | ETFA | ETFB |
ETFDH | EVC | EVC2 | EXOC3L2 | EXOSC3 |
EXT1 | EXT2 | EXTL3 | EYA1 | EZH2 |
FAH | FAM111A | FAM20A | FAM20C | FANCA |
FANCB | FANCC | FANCD2 | FANCE | FANCF |
FANCG | FANCI | FANCL | FAR1 | FAT4 |
FBLN5 | FBN1 | FBN2 | FBXL4 | FGD1 |
FGF10 | FGF3 | FGF8 | FGFR1 | FGFR2 |
FGFR3 | FH | FIG4 | FKBP10 | FKBP14 |
FKRP | FKTN | FLNA | FLNB | FLNC |
FLT4 | FLVCR2 | FOLR1 | FOXC1 | FOXC2 |
FOXE1 | FOXE3 | FOXF1 | FOXG1 | FOXP3 |
FOXRED1 | FRAS1 | FREM1 | FREM2 | FRMD4A |
FTL | FUT8 | FYCO1 | FZD2 | G6PC3 |
GAA | GALC | GALE | GALK1 | GALNS |
GALNT2 | GANAB | GATA2 | GATA3 | GATA4 |
GATA6 | GBA1 | GBA2 | GBE1 | GCDH |
GDF1 | GDF5 | GDF6 | GFAP | GFM1 |
GFPT1 | GJA1 | GJA3 | GJA8 | GJC2 |
GLA | GLB1 | GLDC | GLDN | GLE1 |
GLI1 | GLI2 | GLI3 | GLIS3 | GLUL |
GMNN | GMPPB | GNAI3 | GNAO1 | GNAS |
GNB1 | GNPAT | GNPTAB | GNPTG | GNS |
GORAB | GPC3 | GPC6 | GPI | GPSM2 |
GREB1L | GRHL3 | GRIN1 | GRIN2B | GRIP1 |
GSC | GTF2H5 | GTPBP3 | GUCY2C | GUSB |
GZF1 | H1-4 | HAAO | HADHA | HADHB |
HBA1 | HBA2 | HCCS | HCFC1 | HDAC8 |
HES7 | HESX1 | HIBCH | HIVEP2 | HMGA2 |
HNF1B | HNF4A | HNRNPK | HOXA1 | HOXA13 |
HOXD13 | HPSE2 | HR | HRAS | HSD17B3 |
HSD17B4 | HSF4 | HSPD1 | HSPG2 | HUWE1 |
HYCC1 | HYLS1 | IARS1 | IDH1 | IDS |
IDUA | IER3IP1 | IFIH1 | IFITM5 | IFT122 |
IFT140 | IFT172 | IFT43 | IFT52 | IFT80 |
IFT81 | IGF1 | IGF1R | IGF2 | IGHMBP2 |
IHH | IKBKG | IL11RA | IL1RAPL1 | INPP5E |
INPPL1 | INSR | INTU | INVS | IQCB1 |
IRF6 | ITGA3 | ITGA6 | ITGA8 | ITGB4 |
JAG1 | KANSL1 | KAT6A | KAT6B | KATNB1 |
KCNJ1 | KCNJ2 | KCTD1 | KDM5C | KDM6A |
KIAA0586 | KIAA0753 | KIF11 | KIF14 | KIF1A |
KIF1B | KIF22 | KIF2A | KIF5C | KIF7 |
KLF1 | KLHL40 | KLHL41 | KLHL7 | KMT2A |
KMT2C | KMT2D | KNL1 | KRAS | KRIT1 |
KYNU | L1CAM | L2HGDH | LAMA1 | LAMA2 |
LAMB1 | LAMC3 | LARGE1 | LARP7 | LBR |
LFNG | LGI4 | LHX3 | LHX4 | LIFR |
LIG4 | LIPA | LMBR1 | LMBRD1 | LMNA |
LMNB1 | LMNB2 | LMOD3 | LMX1B | LONP1 |
LRP2 | LRP4 | LRP5 | LRRC56 | LTBP3 |
LTBP4 | LYST | LZTFL1 | LZTR1 | MAB21L2 |
MACF1 | MAF | MAFB | MAGEL2 | MAP2K1 |
MAP2K2 | MAP3K1 | MAP3K20 | MAP3K7 | MAPRE2 |
MASP1 | MATN3 | MBTPS2 | MCOLN1 | MCPH1 |
MED12 | MEF2C | MEGF10 | MEGF8 | MEIS2 |
MEOX1 | MESD | MESP2 | MFRP | MFSD2A |
MGP | MID1 | MKKS | MKS1 | MLC1 |
MLYCD | MMACHC | MMADHC | MMP13 | MMP21 |
MN1 | MNX1 | MOCS1 | MOCS2 | MOGS |
MPDU1 | MPLKIP | MRAS | MRPS22 | MSL3 |
MSMO1 | MSTO1 | MSX1 | MSX2 | MTM1 |
MTO1 | MTOR | MTRFR | MUSK | MYBPC1 |
MYCN | MYH10 | MYH11 | MYH2 | MYH3 |
MYH6 | MYH7 | MYH8 | MYH9 | MYL1 |
MYMK | MYO18B | MYO9A | MYOCD | MYPN |
MYRF | MYT1 | NAA10 | NACC1 | NADSYN1 |
NAGA | NALCN | NANS | NBAS | NBN |
NDE1 | NDP | NDUFAF5 | NEB | NECTIN1 |
NECTIN4 | NEDD4L | NEK1 | NEK8 | NEK9 |
NEU1 | NF1 | NFIX | NHEJ1 | NHS |
NIPAL4 | NIPBL | NKX2-5 | NKX3-2 | NODAL |
NOG | NOTCH1 | NOTCH2 | NPC1 | NPC2 |
NPHP1 | NPHP3 | NPHP4 | NPHS1 | NPR2 |
NR0B1 | NR2F2 | NR5A1 | NRAS | NSD1 |
NSDHL | NUBPL | NUP107 | NXN | OBSL1 |
OCLN | OCRL | ODAD1 | ODAD2 | ODAD3 |
OFD1 | OPHN1 | ORC1 | ORC4 | ORC6 |
OSGEP | OSTM1 | OTX2 | P3H1 | P4HB |
PAFAH1B1 | PAK3 | PALB2 | PAPSS2 | PARN |
PAX2 | PAX3 | PAX6 | PAX7 | PAX8 |
PBX1 | PCGF2 | PCNT | PCYT1A | PDCD10 |
PDE4D | PDGFRB | PDHA1 | PEPD | PEX1 |
PEX10 | PEX11B | PEX12 | PEX13 | PEX14 |
PEX16 | PEX19 | PEX2 | PEX26 | PEX3 |
PEX5 | PEX6 | PEX7 | PFKM | PGAP2 |
PGAP3 | PGM1 | PGM3 | PHF6 | PHF8 |
PHGDH | PHIP | PHOX2B | PIBF1 | PIEZO1 |
PIEZO2 | PIGA | PIGL | PIGN | PIGO |
PIGT | PIGV | PIK3C2A | PIK3CA | PIK3R1 |
PIK3R2 | PITX1 | PITX2 | PITX3 | PKD1 |
PKD1L1 | PKD2 | PKHD1 | PKLR | PLAG1 |
PLG | PLK4 | PLOD1 | PLOD2 | PMM2 |
PNKP | PNPLA1 | POC1A | POGZ | POLE |
POLG2 | POLR1A | POLR1B | POLR1C | POLR1D |
POLR3A | POLR3B | POMGNT1 | POMGNT2 | POMK |
POMT1 | POMT2 | POP1 | POR | PORCN |
POU1F1 | PPIB | PPP1CB | PPP2R1A | PPP2R5D |
PQBP1 | PRG4 | PRIM1 | PRKAG2 | PRKAR1A |
PRKD1 | PRMT7 | PRRX1 | PRSS56 | PRUNE1 |
PSAP | PSAT1 | PSPH | PTCH1 | PTDSS1 |
PTF1A | PTH1R | PTHLH | PTPN11 | PTPN14 |
PTS | PUF60 | PYCR1 | PYGM | QRICH1 |
RAB18 | RAB23 | RAB33B | RAB3GAP1 | RAB3GAP2 |
RAC1 | RAD21 | RAF1 | RAI1 | RAPSN |
RARB | RARS2 | RASA1 | RAX | RBBP8 |
RBM10 | RBM8A | RBPJ | RECQL4 | RELN |
REN | RERE | RET | RFT1 | RFX6 |
RIPK4 | RIT1 | RMRP | RNASEH2A | RNASEH2B |
RNASEH2C | RNASET2 | RNU4ATAC | ROBO1 | ROBO3 |
ROGDI | ROR2 | RPGRIP1L | RPL10 | RPL11 |
RPL35A | RPL5 | RPS10 | RPS17 | RPS19 |
RPS24 | RPS26 | RPS6KA3 | RPS7 | RRAS2 |
RRM2B | RSPH4A | RSPH9 | RTEL1 | RTTN |
RUNX2 | RXYLT1 | RYR1 | SALL1 | SALL4 |
SAMD9 | SAMHD1 | SATB2 | SBDS | SC5D |
SCARF2 | SCLT1 | SCN1A | SCN2A | SCN4A |
SCO2 | SDCCAG8 | SDR9C7 | SEC23B | SEC24D |
SEPSECS | SERPINF1 | SERPINH1 | SETBP1 | SETD5 |
SF3B4 | SGCG | SGPL1 | SH3PXD2B | SHANK3 |
SHH | SHOC2 | SHOX | SIK3 | SIL1 |
SIX3 | SIX5 | SIX6 | SKI | SKIC3 |
SLC10A7 | SLC12A1 | SLC12A6 | SLC13A5 | SLC16A2 |
SLC17A5 | SLC18A3 | SLC25A19 | SLC25A20 | SLC25A24 |
SLC25A38 | SLC26A2 | SLC26A3 | SLC27A4 | SLC29A3 |
SLC2A10 | SLC33A1 | SLC35A2 | SLC35C1 | SLC35D1 |
SLC39A8 | SLC5A7 | SLC6A9 | SLX4 | SMAD3 |
SMAD4 | SMARCA2 | SMARCA4 | SMARCB1 | SMARCC1 |
SMARCE1 | SMC1A | SMC3 | SMCHD1 | SMG9 |
SMN1 | SMO | SMOC1 | SMPD1 | SMPD4 |
SMS | SNORD118 | SNRPB | SNX10 | SNX14 |
SON | SOS1 | SOS2 | SOST | SOX10 |
SOX17 | SOX18 | SOX2 | SOX3 | SOX6 |
SOX9 | SP7 | SPAG1 | SPARC | SPATA5 |
SPECC1L | SPEG | SPG11 | SPRED1 | SRCAP |
SRD5A2 | SRD5A3 | SRY | ST14 | STAC3 |
STAG2 | STAMBP | STAR | STIL | STRA6 |
STRADA | SUCLG1 | SUFU | SULT2B1 | SUMF1 |
SUZ12 | TAB2 | TAF1 | TAFAZZIN | TALDO1 |
TAPT1 | TBC1D20 | TBC1D23 | TBC1D24 | TBC1D32 |
TBCD | TBCE | TBCK | TBL1XR1 | TBX1 |
TBX15 | TBX18 | TBX20 | TBX3 | TBX4 |
TBX5 | TBX6 | TCF12 | TCF4 | TCIRG1 |
TCOF1 | TCTN1 | TCTN2 | TCTN3 | TELO2 |
TENM3 | TENT5A | TFAP2A | TFAP2B | TGDS |
TGFB2 | TGFB3 | TGFBR1 | TGFBR2 | TGIF1 |
TGM1 | THOC6 | THRA | TINF2 | TMCO1 |
TMEM107 | TMEM138 | TMEM165 | TMEM216 | TMEM231 |
TMEM237 | TMEM38B | TMEM67 | TMEM94 | TMEM98 |
TMX2 | TNNI2 | TNNT1 | TNNT3 | TOE1 |
TOP3A | TOR1A | TP63 | TPM2 | TPM3 |
TRAF3IP1 | TRAF7 | TRAIP | TRAP1 | TRAPPC12 |
TRAPPC9 | TREX1 | TRIM37 | TRIP11 | TRIP12 |
TRIP4 | TRMT10A | TRPS1 | TRPV4 | TRPV6 |
TSC1 | TSC2 | TSEN2 | TSEN34 | TSEN54 |
TSFM | TTC21B | TTC7A | TTC8 | TTN |
TUBA1A | TUBB | TUBB2A | TUBB2B | TUBB3 |
TUBB4A | TUBG1 | TUBGCP4 | TUBGCP6 | TWIST1 |
TWIST2 | TXNDC15 | TXNL4A | UBA1 | UBE2T |
UBE3B | UBR1 | UMPS | UROS | USP18 |
USP9X | VAMP1 | VEGFC | VIPAS39 | VLDLR |
VPS13B | VPS33B | VPS53 | VRK1 | VSX2 |
WDPCP | WDR19 | WDR26 | WDR35 | WDR62 |
WDR73 | WDR81 | WNT1 | WNT10B | WNT5A |
WNT7A | WRAP53 | WT1 | XRCC4 | XYLT1 |
XYLT2 | YY1 | ZBTB18 | ZBTB20 | ZC4H2 |
ZEB2 | ZFP57 | ZIC1 | ZIC2 | ZIC3 |
ZMPSTE24 | ZMYND10 | ZSWIM6 |
Akkreditiertes Verfahren: ja
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.
AAAS, ABCA12, ABCC6, ABCC9, ABHD5, ABL1, ACAD9, ACADVL, ACAN, ACE, ACOX1, ACP5, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACVR2B, ACY1, ADAMTS10, ADAMTS17, ADAMTS3, ADAMTSL2, ADAR, ADGRG1, ADGRG6, ADNP, ADSL, AFF4, AGK, AGL, AGPS, AHCY, AHDC1, AHI1, AKT1, AKT2, AKT3, ALDH18A1, ALDH1A3, ALDH3A2, ALDH7A1, ALDOA, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMMECR1, AMPD2, AMT, ANAPC1, ANKH, ANKRD11, ANKS6, ANOS1, ANTXR1, ANTXR2, AP1S2, AP4E1, AR, ARCN1, ARFGEF2, ARHGAP29, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSL, ARX, ASAH1, ASCC1, ASNS, ASPA, ASPM, ASS1, ASXL1, ATAD3A, ATIC, ATP1A2, ATP6V0A2, ATP7A, ATR, ATRX, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B4GAT1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL11A, BCOR, BCS1L, BFSP2, BGN, BHLHA9, BICD2, BIN1, BLM, BLTP1, BMP1, BMP2, BMP4, BMPER, BMPR1B, BNC2, BPNT2, BRAF, BRAT1, BRCA2, BRIP1, BRPF1, BSND, BTD, BUB1B, C2CD3, CA2, CA8, CACNA1C, CACNA1E, CACNA1G, CANT1, CASK, CASR, CBL, CC2D2A, CCBE1, CCDC103, CCDC39, CCDC40, CCDC8, CCDC88C, CCND2, CCNQ, CDAN1, CDC45, CDC6, CDH1, CDH3, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CDT1, CELSR1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CEP57, CEP63, CEP83, CERS3, CERT1, CFAP298, CFAP300, CFAP410, CFAP418, CFAP53, CFC1, CFL2, CFTR, CHAMP1, CHAT, CHD4, CHD7, CHKB, CHMP1A, CHRNA1, CHRNA3, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHSY1, CHUK, CILK1, CIT, CKAP2L, CLCN7, CLP1, CLPB, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COLEC10, COLEC11, COLQ, COQ4, COQ9, COX7B, CPLANE1, CPT2, CRADD, CRB2, CREB3L1, CREBBP, CRIPT, CRLF1, CRPPA, CRTAP, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSF1R, CSNK2A1, CSPP1, CTC1, CTCF, CTNNB1, CTNND1, CTSA, CTSD, CTSK, CTU2, CUL4B, CUL7, CWC27, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP26B1, CYP2U1, CYP4F22, DAG1, DARS1, DCHS1, DCX, DDR2, DDX11, DDX3X, DDX59, DENND5A, DHCR24, DHCR7, DHFR, DHODH, DIAPH1, DIS3L2, DISP1, DKC1, DLL3, DLL4, DLX5, DMPK, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB11, DNAL1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPM3, DSP, DSTYK, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, DZIP1L, EBF3, EBP, ECEL1, EDA, EDNRA, EDNRB, EED, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2B2, EIF2B3, EIF2S3, EIF4A3, EIF5A, ELAC2, ELN, ELOVL4, EMD, EML1, EMX2, ENPP1, EOGT, EP300, EPG5, EPHB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ESCO2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOSC3, EXT1, EXT2, EXTL3, EYA1, EZH2, FAH, FAM111A, FAM20A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAR1, FAT4, FBLN5, FBN1, FBN2, FBXL4, FGD1, FGF10, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FLNC, FLT4, FLVCR2, FOLR1, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMD4A, FTL, FUT8, FYCO1, FZD2, G6PC3, GAA, GALC, GALE, GALK1, GALNS, GALNT2, GANAB, GATA2, GATA3, GATA4, GATA6, GBA1, GBA2, GBE1, GCDH, GDF1, GDF5, GDF6, GFAP, GFM1, GFPT1, GJA1, GJA3, GJA8, GJC2, GLA, GLB1, GLDC, GLDN, GLE1, GLI1, GLI2, GLI3, GLIS3, GLUL, GMNN, GMPPB, GNAI3, GNAO1, GNAS, GNB1, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC6, GPI, GPSM2, GREB1L, GRHL3, GRIN1, GRIN2B, GRIP1, GSC, GTF2H5, GTPBP3, GUCY2C, GUSB, GZF1, H1-4, HAAO, HADHA, HADHB, HBA1, HBA2, HCCS, HCFC1, HDAC8, HES7, HESX1, HIBCH, HIVEP2, HMGA2, HNF1B, HNF4A, HNRNPK, HOXA1, HOXA13, HOXD13, HPSE2, HR, HRAS, HSD17B3, HSD17B4, HSF4, HSPD1, HSPG2, HUWE1, HYCC1, HYLS1, IARS1, IDH1, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IGF1, IGF1R, IGF2, IGHMBP2, IHH, IKBKG, IL11RA, IL1RAPL1, INPP5E, INPPL1, INSR, INTU, INVS, IQCB1, IRF6, ITGA3, ITGA6, ITGA8, ITGB4, JAG1, KANSL1, KAT6A, KAT6B, KATNB1, KCNJ1, KCNJ2, KCTD1, KDM5C, KDM6A, KIAA0586, KIAA0753, KIF11, KIF14, KIF1A, KIF1B, KIF22, KIF2A, KIF5C, KIF7, KLF1, KLHL40, KLHL41, KLHL7, KMT2A, KMT2C, KMT2D, KNL1, KRAS, KRIT1, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LARP7, LBR, LFNG, LGI4, LHX3, LHX4, LIFR, LIG4, LIPA, LMBR1, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LMX1B, LONP1, LRP2, LRP4, LRP5, LRRC56, LTBP3, LTBP4, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MAF, MAFB, MAGEL2, MAP2K1, MAP2K2, MAP3K1, MAP3K20, MAP3K7, MAPRE2, MASP1, MATN3, MBTPS2, MCOLN1, MCPH1, MED12, MEF2C, MEGF10, MEGF8, MEIS2, MEOX1, MESD, MESP2, MFRP, MFSD2A, MGP, MID1, MKKS, MKS1, MLC1, MLYCD, MMACHC, MMADHC, MMP13, MMP21, MN1, MNX1, MOCS1, MOCS2, MOGS, MPDU1, MPLKIP, MRAS, MRPS22, MSL3, MSMO1, MSTO1, MSX1, MSX2, MTM1, MTO1, MTOR, MTRFR, MUSK, MYBPC1, MYCN, MYH10, MYH11, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL1, MYMK, MYO18B, MYO9A, MYOCD, MYPN, MYRF, MYT1, NAA10, NACC1, NADSYN1, NAGA, NALCN, NANS, NBAS, NBN, NDE1, NDP, NDUFAF5, NEB, NECTIN1, NECTIN4, NEDD4L, NEK1, NEK8, NEK9, NEU1, NF1, NFIX, NHEJ1, NHS, NIPAL4, NIPBL, NKX2-5, NKX3-2, NODAL, NOG, NOTCH1, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPR2, NR0B1, NR2F2, NR5A1, NRAS, NSD1, NSDHL, NUBPL, NUP107, NXN, OBSL1, OCLN, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTX2, P3H1, P4HB, PAFAH1B1, PAK3, PALB2, PAPSS2, PARN, PAX2, PAX3, PAX6, PAX7, PAX8, PBX1, PCGF2, PCNT, PCYT1A, PDCD10, PDE4D, PDGFRB, PDHA1, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP2, PGAP3, PGM1, PGM3, PHF6, PHF8, PHGDH, PHIP, PHOX2B, PIBF1, PIEZO1, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIK3R2, PITX1, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKHD1, PKLR, PLAG1, PLG, PLK4, PLOD1, PLOD2, PMM2, PNKP, PNPLA1, POC1A, POGZ, POLE, POLG2, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PORCN, POU1F1, PPIB, PPP1CB, PPP2R1A, PPP2R5D, PQBP1, PRG4, PRIM1, PRKAG2, PRKAR1A, PRKD1, PRMT7, PRRX1, PRSS56, PRUNE1, PSAP, PSAT1, PSPH, PTCH1, PTDSS1, PTF1A, PTH1R, PTHLH, PTPN11, PTPN14, PTS, PUF60, PYCR1, PYGM, QRICH1, RAB18, RAB23, RAB33B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RAPSN, RARB, RARS2, RASA1, RAX, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, REN, RERE, RET, RFT1, RFX6, RIPK4, RIT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNU4ATAC, ROBO1, ROBO3, ROGDI, ROR2, RPGRIP1L, RPL10, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAS2, RRM2B, RSPH4A, RSPH9, RTEL1, RTTN, RUNX2, RXYLT1, RYR1, SALL1, SALL4, SAMD9, SAMHD1, SATB2, SBDS, SC5D, SCARF2, SCLT1, SCN1A, SCN2A, SCN4A, SCO2, SDCCAG8, SDR9C7, SEC23B, SEC24D, SEPSECS, SERPINF1, SERPINH1, SETBP1, SETD5, SF3B4, SGCG, SGPL1, SH3PXD2B, SHANK3, SHH, SHOC2, SHOX, SIK3, SIL1, SIX3, SIX5, SIX6, SKI, SKIC3, SLC10A7, SLC12A1, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A3, SLC25A19, SLC25A20, SLC25A24, SLC25A38, SLC26A2, SLC26A3, SLC27A4, SLC29A3, SLC2A10, SLC33A1, SLC35A2, SLC35C1, SLC35D1, SLC39A8, SLC5A7, SLC6A9, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMN1, SMO, SMOC1, SMPD1, SMPD4, SMS, SNORD118, SNRPB, SNX10, SNX14, SON, SOS1, SOS2, SOST, SOX10, SOX17, SOX18, SOX2, SOX3, SOX6, SOX9, SP7, SPAG1, SPARC, SPATA5, SPECC1L, SPEG, SPG11, SPRED1, SRCAP, SRD5A2, SRD5A3, SRY, ST14, STAC3, STAG2, STAMBP, STAR, STIL, STRA6, STRADA, SUCLG1, SUFU, SULT2B1, SUMF1, SUZ12, TAB2, TAF1, TAFAZZIN, TALDO1, TAPT1, TBC1D20, TBC1D23, TBC1D24, TBC1D32, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TBX15, TBX18, TBX20, TBX3, TBX4, TBX5, TBX6, TCF12, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TELO2, TENM3, TENT5A, TFAP2A, TFAP2B, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, THOC6, THRA, TINF2, TMCO1, TMEM107, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM94, TMEM98, TMX2, TNNI2, TNNT1, TNNT3, TOE1, TOP3A, TOR1A, TP63, TPM2, TPM3, TRAF3IP1, TRAF7, TRAIP, TRAP1, TRAPPC12, TRAPPC9, TREX1, TRIM37, TRIP11, TRIP12, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTC21B, TTC7A, TTC8, TTN, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TWIST1, TWIST2, TXNDC15, TXNL4A, UBA1, UBE2T, UBE3B, UBR1, UMPS, UROS, USP18, USP9X, VAMP1, VEGFC, VIPAS39, VLDLR, VPS13B, VPS33B, VPS53, VRK1, VSX2, WDPCP, WDR19, WDR26, WDR35, WDR62, WDR73, WDR81, WNT1, WNT10B, WNT5A, WNT7A, WRAP53, WT1, XRCC4, XYLT1, XYLT2, YY1, ZBTB18, ZBTB20, ZC4H2, ZEB2, ZFP57, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZSWIM6
3 - 5 ml EDTA-Blut
4 - 6 Wochen
Post oder hauseigener Fahrdienst
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: 03.01.2023