(0621) 42286-0
(0621) 42286-88

Multigen-Diagnostik

Fetale Anomalien

Panel-Nummer: ID850.00

Gene (1223)

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

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: ID850.00, 1223 Gene (3235,6 kb)

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

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen

Versand

Post oder hauseigener Fahrdienst

Kosten

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