NGS Brain Malformations

NGS Hirnfehlbildungen

Zugehörige Erkrankungen:
Balkenagenesie (Corpus-callosum-Agenesie)
Dandy Walker Malformation
Encephalozele
Holoprosencephalie
Hydrocephalus
Lissencephalie
Makrocephalie
Megalencephalie
Mikrocephalie
Polymicrogyrie
Porencephalie (Einzelgendiagnostik COL4A1)
Schizencephalie

Balkenagenesie (Corpus-callosum-Agenesie) Gen-Panel (44 Gene)
AKT3, ARID1A, ARID1B, ARX, B3GALTL, C12orf57, CDK5RAP2, DISC1, DYNC1H1, EOMES, EPG5, FOXG1, GCSH, GLDC, GPSM2, HCCS, KAL1, KIF7, L1CAM, LRP2, MED12, MID1, NDE1, NFIA, OFD1, OPHN1, PAX6, PDHB, PTCH1, RAB3GAP1, RAB3GAP2, RBM10, SLC12A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SPG11, TUBA1A, TUBB1, TUBB2B, TUBB3, UPF3B, VAX1, ZEB2

Dandy Walker Malformation Gen-Panel (7 Gene)
AP1S2, CDKN1C, FOXC1, LAMC1, NID1, ZIC1

Encephalozele Gen-Panel (6 Gene)
COL18A1, LAMB1, LAMC1, MKS1, NID1, TMEM67

Holoprosencephalie Gen-Panel (9 Gene)
FOXH1, GLI2, PTCH1, SHH, SIX3, SMAD2, TDGF1, TGIF1, ZIC2

Hydrocephalus Gen-Panel (11 Gene)
AKT3, AP1S2, B3GALTL, CCDC88C, GPSM2, L1CAM, MAP2K1, MAP2K2, MPDZ, NFIA, PIK3R2

Lissencephalie Gen-Panel (10 Gene)
ACTB, ACTG1, ARX, DCX, DYNC1H1, PAFAH1B1, RELN, TUBA1A, TUBB2B, VLDLR

Makrocephalie Gen-Panel (5 Gene)
BRWD3, CUL4B, FMR1, KIF7, RAB39B

Megalencephalie Gen-Panel (11 Gene)
AKT3, NF1, NSD1, PIK3CA, PIK3R2, PTEN, RIN2, SHOC2, STRADA

Mikrozephalie Gen-Panel (207 Gene)
AARS, ACBD6, ACTB, ACTG1, AIMP1, ALDH18A1, ALG1, ALG12, ALG3, ALG9, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARID1B, ARNT2, ASNS, ASPM, ASXL3, ATM, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BMP4, BUB1B, CAPN10, CASC5, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CNKSR1, COG1, COG6, COG7, COG8, CREBBP, CTCF, CYB5R3, DCX, DDB2, DEAF1, DHCR7, DHFR, DIAPH1, DKC1, DNM1L, DPAGT1, DPM1, DPP6, DYM, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EIF2AK3, ENTPD1, EP300, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EXOSC3, FARS2, FH, FIG4, FOXG1, FTO, GRIN1, HCCS, HTRA2, IER3IP1, IFIH1, IQSEC2, JARID1C, KAT6B, KCNJ6, KCNQ3, KDM5C, KDM6A, KIAA2022, KIF11, KIF14, KIF5C, LIG4, LINS, MCPH1, MECP2, MED17, MFSD2A, MYCN, NAA10, NBN, NDE1, NGLY1, NHEJ1, NIPBL, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAK3, PCNT, PDHX, PGAP3, PHGDH, PIGA, PIK3R1, PNKP, POGZ, POLH, POMT1, POMT2, PPM1D, PPP2R1A, PQBP1, PYCR1, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS2, RBBP8, RFT1, RIMS3, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNU4ATAC, RPS6KA3, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC25A22, SLC2A1, SLC35C1, SLC9A6, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAP29, SPG20, SPOCK1, SPTAN1, SSR4, STIL, TAF1, TAF2, TBCE, TBL1XR1, TBR2, TCF4, TMEM135, TMEM165, TRAPPC9, TREX1, TRMT10A, TSEN2, TSEN54, TTI2, TUBA1A, TUBB2B, TUBB5, TUBG1, TUBGCP6, UBE3A, UBR1, UNC80, VPS13B, VRK1, WDR45B, WDR62, WWOX, XPA, XPC, ZBTB18, ZBTB40, ZEB2 und ZIC2.

Polymicrogyrie Gen-Panel (20 Gene)
AKT3, COL18A1, DYNC1H1, FH, FIG4, GPSM2, KIAA1279, NSDHL, OCLN, PAX6, PEX1, PIK3R2, RAB3GAP1, RAB3GAP2, SRPX2, TBR2, TUBA8, TUBB2B, TUBB3, WDR62

Schizencephalie Gen-Panel (2 Gene)
SIX3, SHH

Hirnfehlbildungen Gen-Panel (407 Gene)
AARS, ABCC9, ACBD6, ACTB, ACTG1, AIMP1, AKT3, ALDH18A1, ALG1, ALG12, ALG3, ALG9, AMPD2, ANKLE2, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARID1A, ARID1B, ARNT2, ARSB, ARX, ASNS, ASPM, ASXL2, ASXL3, ATM, ATP6V0A2, ATR, ATRX, AUTS2, B3GALNT2, B3GALTL, B3GLCT, B3GNT1, B3GNT2, BCAP31, BCL11A, BCOR, BMP4, BRF1, BRWD3, BUB1B, C12orf57, CAPN10, CASC5, CASK, CC2D2A, CCDC88A, CCDC88C, CCND2, CDC6, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CEP83, CHD8, CIT, CLIC2, CNKSR1, COG1, COG6, COG7, COG8, COL4A1, CRADD, CRB2, CREBBP, CTCF, CUL4B, CYB5R3, DAB1, DAG1, DCC, DCX, DDB2, DEAF1, DENND5A, DHCR24, DHCR7, DHFR, DIAPH1, DISC1, DISP1, DKC1, DLL1, DNM1L, DPAGT1, DPM1, DPP6, DYM, DYNC1H1, DYRK1A, EBP, EFTUD2, EHMT1, EIF2AK3, EML1, EMX2, ENTPD1, EOMES, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, EXOSC3, FAM20C, FANCB, FARS2, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMR1, FOXC1, FOXG1, FOXH1, FTO, GAS1, GCM2, GCSH, GFAP, GLDC, GLI2, GLI3, GMPPB, GPR56, GPSM2, GRID2, GRIN1, GTDC2, GUSB, HCCS, HDAC6, HERC2, HRAS, HTRA2, HYLS1, ICK, IDS, IER3IP1, IFIH1, IQSEC2, ISPD, JARID1C, KAL1, KAT6A, KAT6B, KATNB1, KCNJ6, KCNJ8, KCNQ3, KDM5C, KDM6A, KIAA0586, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF5C, KIF7, KNL1, L1CAM, LAMB1, LAMC1, LAMC3, LARGE, LARGE1, LIG4, LINS, LRP2, MAN2B1, MAP2K1, MAP2K2, MCPH1, MECP2, MED12, MED17, MFSD2A, MID1, MKS1, MMACHC, MPDZ, MTM1, MYCN, MYMK, NAA10, NANS, NBN, NDE1, NF1, NFIA, NGLY1, NHEJ1, NID1, NIPBL, NODAL, NOTCH2, NRAS, NSD1, NSDHL, NSUN2, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSTM1, P4HB, PAFAH1B1, PAK3, PAX6, PCNT, PDHB, PDHX, PEX1, PGAP3, PHC1, PHGDH, PI4KA, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PITX2, PLA2G6, PLAT, PLG, PMM2, PNKP, POGZ, POLH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPM1D, PPP2R1A, PPP2R5D, PQBP1, PTCH1, PTCH2, PTEN, PTF1A, PYCR1, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RGS6, RIMS3, RIN2, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNU4ATAC, RPGRIP1L, RPL10, RPS6KA3, RTTN, SAMHD1, SASS6, SEC24D, SEPSECS, SHH, SHOC2, SIX3, SKI, SLC12A6, SLC16A2, SLC25A19, SLC25A22, SLC2A1, SLC35C1, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAP29, SNX10, SPG11, SPG20, SPOCK1, SPTAN1, SRPX2, SSR4, STAMBP, STIL, STRADA, SUFU, SUMF1, SYNE1, TAF1, TAF2, TBC1D24, TBC1D7, TBCE, TBL1XR1, TBR2, TBX15, TCF12, TCF4, TCTN2, TDGF1, TGIF1, TMEM107, TMEM135, TMEM165, TMEM216, TMEM5, TMEM67, TMTC3, TRAPPC9, TREX1, TRMT10A, TSEN2, TSEN34, TSEN54, TTC21B, TTI2, TTR, TUBA1A, TUBA8, TUBB, TUBB1, TUBB2B, TUBB3, TUBB5, TUBG1, TUBGCP6, TWIST1, UBE3A, UBR1, UNC80, UPF3B, USP9X, VAX1, VLDLR, VPS13B, VRK1, WASHC5, WDR4, WDR45B, WDR62, WDR81, WNT3, WWOX, XPA, XPC, ZBTB18, ZBTB20, ZBTB40, ZEB2, ZIC1, ZIC2, ZIC3, ZIC4 und ZNF335.



  • How to order
    Order Form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    1-2 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer. nat. C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: +49 89 130744-0
    Fax: +49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr. 20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.