Painel de Doenças Tratáveis

Sequenciamento completo (NGS – sequenciamento de nova geração) de todas as regiões codificantes e regiões flanqueadoras adjacentes aos éxons de 326 genes relacionados à condições genética tratáveis: ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACADM, ACADVL, ACAT1, ADA, ADAMTS13, AGL, AICDA, AK2, AKR1D1, ALDH7A1, ALDOB, ALPL, AMACR, APOA5, APOC2, AQP2, ARG1, ARSA, ARSB, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AVPR2, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, CAD, CARD11, CASR, CBS, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CDCA8, CFTR, CIITA, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, CORO1A, CPS1, CPT1A, CPT2, CTNS, CTPS1, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP17A1, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DBT, DCLRE1C, DDC, DGAT1, DLD, DMD, DNAJC12, DNAJC21, DOCK2, DUOX2, DUOXA2, EFL1, ELANE, ETFA, ETFB, ETFDH, ETHE1, F8, F9, FAH, FBP1, FGA, FLAD1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, G6PC1 (G6PC), G6PC3, GAA, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA2, GATM, GBA, GBE1, GCDH, GCH1, GCK, GFI1, GGCX, GJB2, GJB6, GLA, GLB1, GLIS3, GLUD1, GOT2, GPIHBP1, GUSB, GYS2, HADH, HADHA, HADHB, HAX1, HBB, HESX1, HLCS, HMGCL, HMGCS2, HPD, HSD3B2, HSD3B7, HYOU1, IDS, IDUA, IFNGR1, IFNGR2, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, IRS4, IVD, IYD, JAGN1, JAK3, KCNJ1, KCNJ11, LAT, LCK, LCT, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, LRRC8A, MAGT1, MALT1, MAP3K14, MC2R, MMAA, MMAB, MMACHC, MMADHC, MMUT (MUT), MOCS1, MPI, MPL, MPO, MRAP, MTHFR, MTR, MTRR, MTTP, MYD88, MYH9, NAGLU, NAGS, NCF2, NCF4, NEUROG3, NHEJ1, NKX2-1, NKX2-5, NNT, NPC1, NPC2, NR0B1, ORAI1, OTC, OTX2, OXCT1, PAH, PAX8, PCBD1, PCCA, PCCB, PDXK, PGM1, PHEX, PHGDH, PHKA2, PHKB, PIK3R1, PLPBP, PNP, PNPO, POU1F1, PRF1, PRKDC, PROP1, PSAT1, PSPH, PTPRC, PTS, PYGL, QDPR, RAC2, RAG1, RAG2, RASGRP1, RB1, RFX5, RFXANK, RFXAP, RORC, SAMD9, SBDS, SCNN1A, SCNN1B, SCNN1G, SGSH, SH2D1A, SI, SLC12A1, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A3, SLC26A4, SLC26A7, SLC27A5, SLC2A1, SLC2A2, SLC37A4, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC6A6, SLC7A7, SLC7A9, SMPD1, SOX3, SPR, SRP54, STAR, STAT1, STX11, STXBP2, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TCN2, TFRC, TG, TH, THRA, TJP2, TPK1, TPO, TPP1, TRH, TRHR, TRPM6, TSHB, TSHR, TTPA, TUBB1, UGT1A1, UNC13D, UNG, UROS, USP53, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP e ZAP70.

Análise criteriosa em busca de variantes genéticas patogênicas/provavelmente patogênicas. Variantes benignas/provavelmente benignas não serão reportadas. Este ensaio permite a identificação de variantes de nucleotídeo único (SNVs), pequenas inserções e deleções (INDELS), bem como variações no número de cópias (CNVs) que compreendam três ou mais éxons dos genes estudados. NÃO inclui análise por MLPA.