Ciliopatias: painel de genes por NGS
Especialidade(s) / Outra(s) Especialidade(s)
Pneumologia
Metodologia
NGS, com CNVs
Código SNS
34900
OMIM
–
Nº de Genes
176
Lista de Genes / Mutações
ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC172, CCDC28B, CCDC39, CCDC40, CCDC65, CCDC96, CCNO, CDH23, CENPF, CEP104, CEP120, CEP164, CEP290, CEP295, CEP41, CEP83, CFAP300, CFAP53, CFTR, CLRN1, CRB1, CRELD1, CRX, CSPP1, DCDC2, DEUP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, EVC, EVC2, EXOC6B, EXOC8, FAM166B, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0556, KIAA0586, KIF14, KIF7, LCA5, LEFTY2, LRAT, LRRC34, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MRE11, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PDE6D, PIEZO2, PIH1D3, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC23, TTC25, TTC6, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423
TAT
2 a 3 meses
Tipo de Amostra
Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.