Endocrinologia

Anomalia do desenvolvimento sexual

Lista de Genes
AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARX, ATF3, ATRX, AXL
B3GLCT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMP15, BMP4, BMP7, BNC2
CBX2, CCNQ, CDKN1C, CEP290, CEP41, CHD4, CHD7, CILK1, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1
DCAF17, DHCR24, DHCR7, DHH, DHX37, DLK1, DMRT1, DMRT2, DNMT3B, DUSP6, DYNC2H1, DYNC2I1
EFNB1, EIF2S3, EPG5, ESCO2, EVC, EVC2
FAT4, FBXL4, FEZF1, FGD1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLRT3, FOXL2, FRAS1, FREM2, FSHB, FSHR
GATA4, GLI2, GLI3, GNRH1, GNRHR, GPC3, GRIP1
HBA1, HCCS, HESX1, HHAT, HNF1B, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2
IFT27, IGSF10, IL17RD, INSL3, IRF6
KAT6B, KISS1, KISS1R, KLB
LAS1L, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, LZTFL1
MAGEL2, MAMLD1, MAP3K1, MCM9, MECP2, MED12, MID1, MKKS, MKRN3, MKS1
NDN, NDNF, NEK1, NR0B1, NR3C1, NR5A1, NSMF
OPHN1, OTUD4, OTX2
PCNT, PCSK1, PDE4D, PEX1, PITX2, PNPLA6, POLR3A, POLR3B, POR, POU1F1, PROK2, PROKR2, PROP1, PSMC3IP, PTCH1, PTDSS1, PTPN11
RAB18, RAB3GAP1, RAB3GAP2, RBBP8, RBM28, RIPK4, RNF216, ROR2, RPL10, RSPO1
SALL1, SAMD9, SDCCAG8, SEMA3A, SEMA3E, SETBP1, SGPL1, SIN3A, SLC29A2, SNRPN, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SPRY4, SRA1, SRD5A2, SRY, STAR
TAC3, TACR3, TBC1D20, TBX15, TMEM70, TOE1, TP63, TRAIP, TRIM32, TSPYL1, TTC8, TWIST2
UBR1
WDPCP, WDR11, WDR35, WDR4, WNT4, WNT5A, WNT7A, WT1, WWOX
ZEB2, ZFPM2
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido