Surdez Não Sindrômica |
Painel por Sequenciamento de Próxima Geração |
A2ML1, ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ARSG, ATP1A3, ATP2B2, ATP6V1B1, BCS1L, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL1A1, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYL1, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNAJC3, DSPP, DTNA, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FAM136A, FDXR, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MAFB, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MRPS2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCARE, PCDH15, PDE1C, PDZD7, PEX1, PEX6, PJVK, PLS3, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRKCB, PRPS1, PTPRQ, RAI1, RDX, REST, RIPOR2, ROR1, R |
Autismo |
Painel por Sequenciamento de Próxima Geração |
ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GNA14, GRIN2B, GRPR, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6 |