SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA2, ADH5, AK1, ALAS2, ALDOA, AMMECR1, AMN, ANK1, APOB, ATP11C, ATRX, BOLA2, BRCA1, BRCA2, BRIP1, CBLIF, CD46, CD59, CDAN1, CDIN1, CFB, CFH, CFI, COQ2, COX4I1, COX4I2, CPOX, CTC1, CUBN, DHFR, DKC1, DNAJC19, DNAJC21, EFL1, EPB41, EPB42, EPO, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, FTCD, G6PD, GATA1, GCLC, GLRX5, GPI, GPX1, GSR, GSS, HBA1, HBA2, HBB, HK1, HMOX1, HSPA9, IREB2, IVD, KCNN4, KIF23, KLF1, LARS2, LCAT, LMBRD1, LPIN2, MAD2L2, MDM4, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPIG6B, MTHFD1, MTR, MTRR, MYSM1, NBN, NHP2, NOP10, NT5C3A, PALB2, PANK2, PARN, PCCA, PCCB, PFKM, PGK1, PIEZO1, PKLR, PNPO, PRF1, PUS1, RACGAP1, RAD51, RAD51C, RFWD3, RGL2, RHAG, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPLP0, RPS10, RPS11, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SBDS, SC5D, SEC23B, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SPTA1, SPTB, SRC, SRP54, SRP72, STEAP3, TALDO1, TCN2, TERT, TF, TFRC, TGFB1, THBD, TINF2, TKFC, TMPRSS6, TP53, TPI1, TRNT1, TSR2, UBE2T, UMPS, UROD, UROS, VPS13A, VPS4A, WRAP53, XK, XRCC2, YARS2, ZCCHC8