ABCC9 | ACAN | ACP5 | ACVR1 | ADAMTS10 |
ADAMTS17 | AFF3 | AGA | AGPS | ALG12 |
ALG3 | ALG9 | ALPL | ALX1 | ALX3 |
ALX4 | AMER1 | ANKH | ANKRD11 | ANO5 |
ANTXR2 | ARCN1 | ARHGAP31 | ARL6 | ARSB |
ARSL | ASXL1 | ASXL2 | ATP6V0A2 | ATP7A |
B3GAT3 | B3GLCT | B4GALT7 | BBS1 | BBS10 |
BBS12 | BBS2 | BBS4 | BBS5 | BBS7 |
BBS9 | BHLHA9 | BMP1 | BMP2 | BMPER |
BMPR1B | BPNT2 | C2CD3 | CA2 | CANT1 |
CASR | CC2D2A | CCDC8 | CCN6 | CCNQ |
CDC45 | CDH3 | CDKN1C | CDT1 | CEP120 |
CEP290 | CFAP410 | CHST14 | CHST3 | CHSY1 |
CILK1 | CLCN5 | CLCN7 | COG1 | COG4 |
COL10A1 | COL11A1 | COL11A2 | COL1A1 | COL1A2 |
COL2A1 | COL9A1 | COL9A2 | COL9A3 | COLEC11 |
COMP | COPB2 | CREB3L1 | CREBBP | CRTAP |
CSGALNACT1 | CSPP1 | CTSA | CTSC | CTSK |
CUL7 | CYP27B1 | CYP2R1 | DDR2 | DHCR24 |
DHCR7 | DHODH | DIS3L2 | DLL3 | DLL4 |
DLX3 | DLX5 | DMP1 | DNMT3A | DOCK6 |
DPAGT1 | DPM1 | DVL1 | DVL2 | DVL3 |
DYM | DYNC2H1 | DYNC2I1 | DYNC2I2 | DYNC2LI1 |
DYNLT2B | EBP | EED | EFTUD2 | EIF2AK3 |
ENPP1 | EOGT | ERF | ESCO2 | EVC |
EVC2 | EXT1 | EXT2 | EXTL3 | EZH2 |
FAM111A | FAM20C | FBN1 | FBN2 | FERMT3 |
FGF10 | FGF16 | FGF23 | FGFR1 | FGFR2 |
FGFR3 | FIG4 | FKBP10 | FLNA | FLNB |
FN1 | FUCA1 | FZD2 | GALNS | GALNT3 |
GDF5 | GDF6 | GHR | GJA1 | GLB1 |
GLI3 | GNAS | GNPAT | GNPTAB | GNPTG |
GNS | GORAB | GPC6 | GSC | GUSB |
GZF1 | HDAC8 | HES7 | HGSNAT | HHAT |
HOXD13 | HPGD | HS2ST1 | HSPG2 | IDH1 |
IDS | IDUA | IFIH1 | IFITM5 | IFT122 |
IFT140 | IFT172 | IFT43 | IFT52 | IFT80 |
IFT81 | IHH | IL11RA | IL1RN | INPPL1 |
KAT6B | KDELR2 | KIAA0753 | KIF22 | KIF7 |
KMT2D | LBR | LEMD3 | LIFR | LMBR1 |
LMNA | LMX1B | LONP1 | LPIN2 | LRP4 |
LRP5 | LRRK1 | LTBP1 | LTBP3 | MAFB |
MAN2B1 | MAP3K7 | MASP1 | MATN3 | MBTPS1 |
MEGF8 | MEOX1 | MESD | MESP2 | MGP |
MKKS | MKS1 | MMP13 | MMP2 | MPDU1 |
MSX2 | MTX2 | MYCN | MYH3 | MYO18B |
NAGLU | NANS | NBAS | NEK1 | NEU1 |
NF1 | NFIX | NIPBL | NKX3-2 | NLRP3 |
NOG | NOTCH1 | NOTCH2 | NPR2 | NPR3 |
NSD1 | NSDHL | NXN | OBSL1 | OFD1 |
ORC1 | ORC4 | ORC6 | OSTM1 | P3H1 |
P4HB | PAPSS2 | PAX3 | PCNT | PCYT1A |
PDE3A | PDE4D | PEX5 | PEX7 | PGM3 |
PHEX | PHGDH | PIGT | PIGV | PIK3C2A |
PIK3R1 | PISD | PITX1 | PKDCC | PLOD2 |
PLS3 | POC1A | POLR1A | POLR1B | POLR1C |
POLR1D | POP1 | POR | PPIB | PRKAR1A |
PRKG2 | PRMT7 | PSAT1 | PSPH | PTDSS1 |
PTH1R | PTHLH | PTPN11 | PUF60 | PYCR1 |
RAB23 | RAB33B | RASGRP2 | RBM8A | RBPJ |
RECQL4 | RFT1 | RINT1 | RMRP | RNU4ATAC |
ROR2 | RPGRIP1L | RPL13 | RUNX2 | SALL1 |
SALL4 | SBDS | SCARF2 | SCUBE3 | SEC24D |
SERPINF1 | SERPINH1 | SETD2 | SF3B4 | SFRP4 |
SGMS2 | SGSH | SH3BP2 | SH3PXD2B | SHOX |
SKI | SLC10A7 | SLC17A5 | SLC26A2 | SLC29A3 |
SLC34A1 | SLC34A3 | SLC35C1 | SLC35D1 | SLC39A13 |
SLCO2A1 | SMAD3 | SMAD4 | SMAD6 | SMARCAL1 |
SMC1A | SMC3 | SMOC1 | SNRPB | SNX10 |
SOST | SOX9 | SP7 | SPARC | STT3A |
SUMF1 | TALDO1 | TAPT1 | TBCE | TBX15 |
TBX3 | TBX4 | TBX5 | TBX6 | TBXAS1 |
TCIRG1 | TCOF1 | TCTN2 | TCTN3 | TENT5A |
TERT | TGFB1 | TGFB2 | TGFBR2 | TMCO1 |
TMEM165 | TMEM216 | TMEM231 | TMEM38B | TNFRSF11A |
TNFRSF11B | TNFSF11 | TONSL | TP63 | TRAPPC2 |
TREM2 | TRIP11 | TRPS1 | TRPV4 | TRPV6 |
TTC21B | TTC8 | TWIST1 | TYROBP | UFSP2 |
UNC45A | VDR | WBP11 | WDPCP | WDR19 |
WDR35 | WNT1 | WNT10B | WNT5A | WNT7A |
XRCC4 | XYLT1 | XYLT2 | YY1 | ZMPSTE24 |
ZNF687 | 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.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, AFF3, AGA, AGPS, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARL6, ARSB, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, B3GAT3, B3GLCT, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COPB2, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPAGT1, DPM1, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EED, EFTUD2, EIF2AK3, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GSC, GUSB, GZF1, HDAC8, HES7, HGSNAT, HHAT, HOXD13, HPGD, HS2ST1, HSPG2, IDH1, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IL11RA, IL1RN, INPPL1, KAT6B, KDELR2, KIAA0753, KIF22, KIF7, KMT2D, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP3K7, MASP1, MATN3, MBTPS1, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP2, MPDU1, MSX2, MTX2, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NPR3, NSD1, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3R1, PISD, PITX1, PKDCC, PLOD2, PLS3, POC1A, POLR1A, POLR1B, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RINT1, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, STT3A, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTN2, TCTN3, TENT5A, TERT, TGFB1, TGFB2, TGFBR2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TYROBP, UFSP2, UNC45A, VDR, WBP11, WDPCP, WDR19, WDR35, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZMPSTE24, ZNF687, ZSWIM6
* 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: 11.04.2023