Anomalias do SNC

Malformação para anomalias do SNC

Lista de Genes
ACTB, ACTG1, ADAMTS3, ADGRG1, AGGF1, AHI1, AIMP1, AKT1, AKT3, AMPD2, ANKLE2, APC2, ARFGEF2, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL3, ARMC9, ARX, ASNS, ASPM, ATAD3A, ATN1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATR
B3GALNT2, B4GAT1, B9D1, BICD2, BLTP1, BMP4, BMPER, BRF1
C19ORF12, C2CD3, CACNA1G, CASK, CASP2, CC2D1A, CCBE1, CCDC88A, CCDC88C, CCM2, CCND2, CDC45, CDC6, CDH2, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP41, CEP63, CEP85L, CHMP1A, CIT, CKAP2L, CLP1, COASY, COL18A1, COL3A1, COL4A1, COL4A2, COPB2, CP, CPLANE1, CPT2, CRADD, CRBN, CRPPA, CSNK2A1, CSPP1, CTNNA2, CTU2, CUL4B
DAG1, DCHS1, DCPS, DCX, DHCR24, DHX37, DIAPH1, DISC1, DISP1, DLL1, DMXL2, DNA2, DOCK6, DPF2, DYNC1H1, DYRK1A
EDC3, EMC1, EML1, EMX2, EOMES, EPG5, ERCC1, ERMARD, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8
FA2H, FAM111A, FAT4, FBXO5, FDFT1, FGD1, FGFR1, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FMN2, FOXA2, FOXG1, FRRS1L, FTL, FTO
GAS1, GFM2, GLI2, GMNN, GMPPB, GNAO1, GNAQ, GNB1, GPHN, GPRIN1, GPSM2, GPX4, GRIK5, GRIN2A, GRIN2B
HNMT, HSD17B4, HYLS1
IBA57, IER3IP1, ISCA1, ITPR1
KAT6A, KATNB1, KATNIP, KCNA1, KCNMA1, KDM5B, KIAA0586, KIF11, KIF14, KIF2A, KIF5C, KIF7, KIFBP, KLHL15, KNL1, KRIT1
L1CAM, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LIG4, LINS1, LMAN2L, LRP2
MACF1, MAN1A2, MAN1B1, MAP1B, MAPK8IP3, MBD5, MBOAT7, MCPH1, MECP2, MED12, MED17, MED23, MED9, MEF2C, METTL23, MFSD2A, MKS1, MLYCD, MN1, MPDZ, MRE11, MTOR, MXRA8
NANS, NBN, NCAPD3, NCOA3, NDE1, NDN, NDST1, NEDD4L, NEK1, NEUROD2, NFIA, NHEJ1, NIN, NPHP1, NPHP3, NPRL2, NPRL3, NR2F1, NSDHL, NSMCE2, NSUN2, NUP107, NUP133
OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP
PAFAH1B1, PALLD, PANK2, PAX6, PCGF2, PCLO, PCNT, PDCD10, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHC1, PHGDH, PI4KA, PIBF1, PIDD1, PIGB, PIGC, PIGP, PIGQ, PIK3CA, PIK3R2, PLA2G6, PLAA, PLK4, PMPCA, PNKP, POLR1C, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1R15B, PQBP1, PRICKLE1, PRKDC, PRSS12, PSAT1, PTCH1, PTEN, PYCR2
QARS1
RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RECQL4, RELN, RERE, RMND1, RNASE1, RNF113A, RPGRIP1L, RTTN, RXYLT1
SARS1, SARS2, SASS6, SCN1B, SCN2A, SCN3A, SEPSECS, SF3B4, SHH, SIK1, SIN3A, SIX3, SLC25A19, SLC25A22, SLC45A1, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMOX, SNAP29, SNRPN, SON, SOX2, SRD5A3, SRPX2, ST3GAL3, STAG2, STAMBP, STIL, STS, STXBP1, SUFU, SYNE1
TAF13, TBC1D20, TBC1D23, TBC1D24, TBR1, TBX1, TCTN1, TCTN2, TECR, TGIF1, TK2, TMEM237, TMEM67, TMTC3, TMX2, TNIK, TOE1, TP53RK, TPRKB, TRAIP, TRAPPC14, TRAPPC9, TRIO, TRMT10A, TRMT10C, TRRAP, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3
USP18
VAC14, VIPAS39, VLDLR, VPS33B, VPS53, VRK1
WARS2, WASHC4, WDR26, WDR4, WDR45, WDR62, WDR73, WDR81, WT1
YWHAE
ZC3H14, ZIC2, ZNF335, ZNHIT3
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido