DRUCKEN

Neuralrohrdefekte

Sequenzierung und Duplikations-/Deletions-Screening

VANGL1M, VANGL2M

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)

Legende

F= Fragment-Analyse

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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