Patologias sindromáticas/polimalformativas

Ciliopatias

Lista de Genes
ACVR2B, AHI1, ANKS6, ARL13B, ARL6
B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL9L
CC2D2A, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP298, CFAP300, CFAP52, CFAP53, CFC1, CFTR, CPLANE1, CRELD1, CSPP1
DCDC2, DHCR7, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, DYNC2I2
EVC, EVC2
FANCB, FOXH1, FOXJ1
GAS2L2, GAS8, GATA6, GDF1, GJA1, GLIS2
HAND1, HYDIN
IFT122, IFT140, IFT172, IFT27, IFT80, INPP5E, INVS, IQCB1
KATNIP, KIAA0586, KIF14, KIF7
LEFTY2, LRRC56, LZTFL1
MCIDAS, MED13L, MKKS, MKS1, MMP21, MRE11
NAT10, NEK1, NEK10, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4
ODAD1, ODAD2, ODAD3, ODAD4, OFD1
PDE6D, PKD1L1
RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9
SDCCAG8, SHROOM3, SMAD2, SPAG1, SPEF2, STK36
TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TP73, TRIM32, TTC12, TTC21B, TTC8
WDPCP, WDR19, WDR35
ZIC3, ZMYND10, ZNF423
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido