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Multigen-Diagnostik

Skelettdysplasien, umfassende Diagnostik

Panel-Nummer: ID356.00

Gene (407)

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

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: ID356.00, 407 Gene (969,6 kb)

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

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen

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: 11.04.2023