International Medical Services
Neuralrohrdefekte
Neuralrohrdefekte
Sequenzierung und Duplikations-/Deletions-Screening
VANGL1M, VANGL2M
VANGL1M, VANGL2M
Erweitertes Gen-Set <sup>⌂</sup>
Erweitertes Gen-Set ⌂
SEPT6, ABCB6, ABL1, ABL2, GPR125, AHCY, ALDH1A2, ALDH1L1, ALX1, AMBRA1, AMD1, AMT, APAF1, APEX1, APOB, ARHGAP35, ARID1A, AXIN1, AZI2, B9D1, B9D2, BBS4, BCL10, BHMT, BHMT2, BMP4, BRCA1, BRD2, CASP3, CASP9, CAT, CBS, CC2D2A, CCL2, CCL3, CDH1, CDON, CELSR1, CELSR2, CELSR3, CEP290, CFL1, CHKA, CHUK, CITED2, COBL, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COQ3, CRABP1, CRABP2, CTH, CTHRC1, CTNNBIP1, CUBN, CXCL6, CYCS, CYP26A1, CYP26B1, DAAM1, DACT1, DCHS1, DEAF1, DHFR, DLC1, DLG1, DLL3, DLX5, DNAAF1, DNMT1, DNMT3B, DVL1, DVL2, DVL3, EFNA5, ENAH, EP300, EPCAM, EPHA7, EPOR, ERCC2, FAT4, FGFR1, FGFR2, FKBP8, FOLH1, FOLR1, FOLR2, FOLR3, FOXE1, FOXH1, FOXN3, FPGS, FTCD, FUZ, FZD1, FZD2, FZD3, FZD4, FZD5, FZD6, GAMT, GAPDH, GART, GATA3, GCSH, GDF3, GDF6, GGH, GLDC, GLI2, GPC5, GRHL1, GRHL2, GRHL3, GSTO1, HDAC4, HES1, HES3, HES7, HIC1, HK1, HK2, HSPG2, HYLS1, ICMT, INADL, INPP5E, INS, INSR, INTU, INVS, IRF6, ITGA3, ITGA6, ITGB1, ITPK1, IZUMO1R(FOLR4), JARID2, KCNJ10, KDM6A, KIF14, KMT2D, LAMA5, LAMC1, LEP, LEPR, LFNG, LMNB1, LMO4, LPAR1, LRP6, MAP3K4, MAP3K8, MAPK9, MARCKS, MARCKSL1, MAT1A, MAT2A, MED12, MEN1, MEOX1, MESP2, MGMT, MKS1, MSGN1, MSX1, MSX2, MTHFD1, MTHFD2, MTHFD2L, MTHFR, MTHFS, MTR, MTRR, MTTP, MUT, MYT1L, NAP1L4, NAT1, NAT2, NCAM1, NDST1, NECTIN1, NEFL, NEUROG2, NNMT, NODAL, NOG, NOS1, NOS2, NOS3, NPHP3, NUMB, NUP50, PALLD, PAX2, PAX3, PAX7, PCMT1, PCYT1A, PDGFRA, PEMT, PFN1, PIGA, PIK3CA, PITX2, POR, POU3F1, PRICKLE1, PRICKLE2, PRICKLE3, PRICKLE4, PRKACA, PRKACB, PRKCB, PRKCG, PRMT1, PRMT2, PTCH1, PTK7, PTPN11, PTPN9, PVR(NECL5), PVRL2(NECTIN2), RAB23, RAC1, RARA, RARG, RFC1, RGMA, RNMT, ROR2, RPGRIP1L, RYBP, SALL1, SALL2, SALL4, SARDH, SATB2, SCRIB, SDC4, SEC24B, SEMA4C, SESTD1, SETD2, SFRP1, SFRP2, SFRP3(FRZB), SHH, SHMT1, SHROOM1, SHROOM2, SHROOM3, SHROOM4, SIRT1, SKI, SLC19A1, SLC2A1, SLC2A4, SMARCA4, SMURF1, SMURF2, SNX1, SNX13, SNX2, SOD1, SOD2, SOX3, SP8, SPINT2, ST14, SUMO1, SUPT20H, T, TBX22, TBX6, TCFAP2A, TCN2, TCOF1, TECR, TFAP2A, TGDS, TGIF1, TMEM216, TMEM231, TMEM5, TMEM67, TP53, TP63, TRAF4, TRDMT1, TRPM6, TULP3, TWIST1, TXN2, TYMS, UCP2, VANGL1, VANGL2, VASP, VCL, WNT11, WNT3A, WNT5A, WNT7A, WNT9A, XNP(ATRX), XRCC1, XRCC3, YBX1, YYL, ZDBF2, ZIC1, ZIC2, ZIC3, ZNRF3 (321 Gene)
SEPT6, ABCB6, ABL1, ABL2, GPR125, AHCY, ALDH1A2, ALDH1L1, ALX1, AMBRA1, AMD1, AMT, APAF1, APEX1, APOB, ARHGAP35, ARID1A, AXIN1, AZI2, B9D1, B9D2, BBS4, BCL10, BHMT, BHMT2, BMP4, BRCA1, BRD2, CASP3, CASP9, CAT, CBS, CC2D2A, CCL2, CCL3, CDH1, CDON, CELSR1, CELSR2, CELSR3, CEP290, CFL1, CHKA, CHUK, CITED2, COBL, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COQ3, CRABP1, CRABP2, CTH, CTHRC1, CTNNBIP1, CUBN, CXCL6, CYCS, CYP26A1, CYP26B1, DAAM1, DACT1, DCHS1, DEAF1, DHFR, DLC1, DLG1, DLL3, DLX5, DNAAF1, DNMT1, DNMT3B, DVL1, DVL2, DVL3, EFNA5, ENAH, EP300, EPCAM, EPHA7, EPOR, ERCC2, FAT4, FGFR1, FGFR2, FKBP8, FOLH1, FOLR1, FOLR2, FOLR3, FOXE1, FOXH1, FOXN3, FPGS, FTCD, FUZ, FZD1, FZD2, FZD3, FZD4, FZD5, FZD6, GAMT, GAPDH, GART, GATA3, GCSH, GDF3, GDF6, GGH, GLDC, GLI2, GPC5, GRHL1, GRHL2, GRHL3, GSTO1, HDAC4, HES1, HES3, HES7, HIC1, HK1, HK2, HSPG2, HYLS1, ICMT, INADL, INPP5E, INS, INSR, INTU, INVS, IRF6, ITGA3, ITGA6, ITGB1, ITPK1, IZUMO1R(FOLR4), JARID2, KCNJ10, KDM6A, KIF14, KMT2D, LAMA5, LAMC1, LEP, LEPR, LFNG, LMNB1, LMO4, LPAR1, LRP6, MAP3K4, MAP3K8, MAPK9, MARCKS, MARCKSL1, MAT1A, MAT2A, MED12, MEN1, MEOX1, MESP2, MGMT, MKS1, MSGN1, MSX1, MSX2, MTHFD1, MTHFD2, MTHFD2L, MTHFR, MTHFS, MTR, MTRR, MTTP, MUT, MYT1L, NAP1L4, NAT1, NAT2, NCAM1, NDST1, NECTIN1, NEFL, NEUROG2, NNMT, NODAL, NOG, NOS1, NOS2, NOS3, NPHP3, NUMB, NUP50, PALLD, PAX2, PAX3, PAX7, PCMT1, PCYT1A, PDGFRA, PEMT, PFN1, PIGA, PIK3CA, PITX2, POR, POU3F1, PRICKLE1, PRICKLE2, PRICKLE3, PRICKLE4, PRKACA, PRKACB, PRKCB, PRKCG, PRMT1, PRMT2, PTCH1, PTK7, PTPN11, PTPN9, PVR(NECL5), PVRL2(NECTIN2), RAB23, RAC1, RARA, RARG, RFC1, RGMA, RNMT, ROR2, RPGRIP1L, RYBP, SALL1, SALL2, SALL4, SARDH, SATB2, SCRIB, SDC4, SEC24B, SEMA4C, SESTD1, SETD2, SFRP1, SFRP2, SFRP3(FRZB), SHH, SHMT1, SHROOM1, SHROOM2, SHROOM3, SHROOM4, SIRT1, SKI, SLC19A1, SLC2A1, SLC2A4, SMARCA4, SMURF1, SMURF2, SNX1, SNX13, SNX2, SOD1, SOD2, SOX3, SP8, SPINT2, ST14, SUMO1, SUPT20H, T, TBX22, TBX6, TCFAP2A, TCN2, TCOF1, TECR, TFAP2A, TGDS, TGIF1, TMEM216, TMEM231, TMEM5, TMEM67, TP53, TP63, TRAF4, TRDMT1, TRPM6, TULP3, TWIST1, TXN2, TYMS, UCP2, VANGL1, VANGL2, VASP, VCL, WNT11, WNT3A, WNT5A, WNT7A, WNT9A, XNP(ATRX), XRCC1, XRCC3, YBX1, YYL, ZDBF2, ZIC1, ZIC2, ZIC3, ZNRF3 (321 Gene)
Legende
M= Duplikations-/Deletions-Screening mittels MLPA oder XON-Array
P= Pyro-Sequenzierung
S= Sanger-Sequenzierung
⌂= Auswahl der am wahrscheinlichsten betroffenen Gene für gesetzliche krankenversicherte Patienten bis zu 25 kb nach klinischer Symptomatik und bioinformatischer Auswertung.
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