Perturbação do neurodesenvolvimento

Autismo, espetro do

Lista de Genes
ADNP, ADSL, AKT1, ALDH5A1, ALG13, ALMS1, AMT, ANK3, ANKRD11, ARID1B, ARNT2, ARVCF, ARX, ASH1L, ASXL3, ATRX, AUTS2
BAZ1B, BCKDK, BCL11A, BRAF
CACNA1C, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA7, CLIP2, CNTN6, CNTNAP2, COMT, CREBBP, CTNND2
DHCR7, DPYD, DYM, DYRK1A
EHMT1, ELN, EP300
FGFR1, FLCN, FOLR1, FOXG1, FOXP1, FTSJ1
GABRB3, GABRD, GATM, GJA5, GJA8, GP1BB, GRIA3, GRIN2B, GRIP1, GTF2I, GTF2IRD1
HDAC4, HDAC8, HERC2, HESX1, HIRA, HNF1B, HOXA1, HPRT1
IL1RAPL1, IQSEC2
JMJD1C
KATNAL2, KCNAB2, KDM5C, KLLN, KMT2A, KMT5B
LHX1, LIMK1
MAGEL2, MAOA, MBD5, MECP2, MED12, MED13L, MEIS2, MID1, MKRN3
NAGA, NDN, NDP, NHS, NIPBL, NLGN3, NLGN4X, NPAP1, NRXN1, NSD1
OPHN1, OTX2
PAH, PCDH19, PDE4D, PIK3CA, PLXND1, POGZ, PQBP1, PRDM16, PRKAR1A, PROKR2, PTCHD1, PTEN, PTPN11
RAB39B, RAD21, RAI1, RELN, RERE, REV3L, RFC2, RPL10, RREB1
SATB2, SCN1A, SCN2A, SCN8A, SDHB, SDHC, SDHD, SEC23B, SEMA3E, SETD2, SETD5, SH2B1, SHANK2, SHANK3, SIM1, SIN3A, SKI, SLC35C1, SLC6A1, SLC6A8, SLC9A6, SMAD4, SMC1A, SMC3, SNRPN, SOX2, SOX3, STS, STXBP1
TBL1XR1, TBL2, TBX1, TCF12, TCF20, TCF4, TSC1, TSC2
UBE3A, UFD1
VPS13B
WFS1
ZBTB20, ZEB2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída