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Morte súbita: painel de genes por NGS

Especialidade(s) / Outra(s) Especialidade(s)

Cardiologia

Cardiologia Pediátrica, Medicina Interna

Metodologia

NGS, com opção de CNVs

Código SNS

34900

OMIM

Nº de Genes

295

Lista de Genes / Mutações

A2ML1, AARS2, ABCA1, ABCA12, ABCC6, ABCC9, ABCG5, ABCG8, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, AKT1, ALG10, ALG10B, ALMS1, ANK2, ANKRD1, ANO5, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APTX, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CBL, CBS, CHRM2, CLCF1, COA5, COA6, COL3A1, COL5A1, COL5A2, COQ2, COX15, COX6B1, CPT1A, CPT2, CREB3L3, CRLF1, CRYAB, CSRP3, CTF1, CTNNA3, CYP27A1, DEPDC5, DES, DLD, DMD, DMPK, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, EFEMP2, ELAC2, ELN, EMD, ENPP1, EPG5, EPHX2, EYA4, FAH, FBN1, FBN2, FGF12, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FLNC, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GHR, GJA1, GJA5, GLA, GLB1, GNAI2, GNPTAB, GPD1, GPD1L, GPIHBP1, GUSB, HAMP, HCN4, HFE, HFE2, HRAS, IDH2, IKZF1, ILK, ITIH4, JPH2, JUP, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIAS, LIPA, LIPI, LMF1, LMNA, LPL, LRP6, LRRC10, LZTR1, MAP2K1, MAP2K2, MAT2A, MED12, MFAP5, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO6, MYOM1, MYOT, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NOTCH1, NPPA, NRAS, OBSCN, PCDH19, PCSK9, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLEKHM2, PLN, PLOD1, PMM2, PPP1R17, PRDM16, PRKAG2, PRKG1, PRRT2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SEMA3A, SGCA, SGCB, SGCD, SHOC2, SKI, SLC22A5, SLC25A3, SLC25A4, SLC2A1, SLC2A10, SLC40A1, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, USF1, VCL, XK

TAT

4 a 5 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.