Patologias sindromáticas/polimalformativas

Obesidade sindromática

Lista de Genes
ABCA4, ADNP, AFF4, AGBL5, AIP, AKT2, ALMS1, ANOS1, APC2, ApoE, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMC5, ARNT2, ARVCF, ATRX
BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BEST1, BLK, BRAF
CA4, CACNA1S, CANT1, CDH23, CDHR1, CEP164, CEP19, CEP290, CERKL, CFAP418, CHD7, CLIP2, CLRN1, CNGA1, CNGB1, CNNM2, COMT, CRB1, CREBBP, CRX, CTNNB1, CTSH, CUL4B, CYP19A1, CYP7A1
DEAF1, DHDDS, DPYD, DUSP6, DYNC2I2, DYRK1B
EGF, EHMT1, EIF2S3, ELN, EP300, ERMARD, EYS
FAM161A, FEZF1, FGF17, FGF8, FGFR1, FGFR3, FLII, FLRT3, FMR1, FOXP1, FSCN2, FTO
GABRA3, GABRD, GATA4, GHR, GNAS, GP1BB, GTF2IRD1, GUCA1B
H6PD, HACE1, HCRT, HDAC4, HDAC8, HERC2, HESX1, HGSNAT, HIRA, HLA-DQB1, HLA-DRB1, HS6ST1, HSD11B1, HUWE1
IDH3B, IFT140, IFT172, IFT27, IFT74, IGF1, IGFALS, IL17RD, IMPDH1, IMPG2, INPP5E, IQSEC2
JMJD1C
KCNAB2, KCNJ18, KDM6A, KIF7, KISS1R, KIZ, KLHL7, KMT2A, KMT2D
LAS1L, LEP, LEPR, LIMK1, LIPE, LRAT, LZTFL1
MAGEL2, MAK, MAN1B1, MC4R, MEGF8, MERTK, MKKS, MKRN3, MKS1, MLXIPL, MOG, MTFMT, MYT1L
NDN, NEK2, NIPBL, NPAP1, NPHP1, NR0B2, NR2E3, NRL, NSD1, NSMF, NTRK2
OFD1, OTX2
P2RY11, PAX6, PCARE, PCNT, PCSK1, PDE11A, PDE4D, PDE6A, PDE6B, PDE6G, PDSS1, PHF6, PNPLA6, POMC, POMGNT1, PPARG, PRCD, PRDM16, PRKAR1A, PRMT7, PROK2, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PTEN
RAB23, RAD21, RAI1, RAP1A, RAP1B, RBMX, RBP3, RDH12, REEP6, RERE, RFC2, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RREB1
SAG, SDCCAG8, SEMA3A, SEMA4A, SETD2, SETD5, SH2B1, SHOX, SIM1, SIN3A, SKI, SLC25A4, SLC7A14, SLC7A7, SMAD4, SMC1A, SMC3, SNRNP200, SNRPN, SOX10, SOX2, SOX3, SPATA7, SPG11, SPRY4, SRY, STX16
TACR3, TBL2, TBX1, TBX3, THOC2, TNFSF4, TOPORS, TRAF3IP1, TRAPPC9, TRIM32, TTC8, TUB, TULP1
UBE3A, UFD1, USH2A, USP8
VPS13B
WDPCP, WDR11, WNT4, WT1
XRCC4, XYLT1
ZBTB20, ZDHHC15, ZNF365, ZNF408, ZNF513
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída