CID10: E72, H91
Especialidade: Pediatria, Endocrinologia, Hematologia, Imunologia, Neurologia, Pneumologia, Nefrologia, Oncologia
DTRAT - PAINEL DE DOENÇAS TRATÁVEIS
Material
SANGUE TOTAL OU SWAB BUCAL
Meio(s) de Coleta
Sangue total: Tubo com EDTA (roxo) Swab bucal: Kit de coleta específico
Prazo
25 dias úteis
Realização
Segunda a sexta-feira
Volume Mínimo
4 mL
Método
SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
FORMULÁRIO OBRIGATÓRIO
RQ-0596 TERMO DE CONSENTIMENTO LIVRE E ESCLARECIDO PARA TESTE GENÉTICO
FORMULÁRIO OBRIGATÓRIO
RQ-0697 QUESTIONÁRIO - EXAMES GENÉTICOS
Interpretação
Doenças Relacionadas
Doenças endócrinas, Doenças hematológicas, hepáticas, Doenças gastrointestinais, Doenças imunológicas, Doenças neurológicas, Doenças pulmonares, Doenças renais, Doenças metabólicas, Neoplasias, Erros Inatos do Metabolismo, Surdez
Genes analisados
ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADVL, ACAT1, ADA, ADAMTS13, AGL, AICDA, AK2, AKR1D1, ALAD, ALAS2, ALDH7A1, ALDOA, ALDOB, ALPL, AMACR, AMT, APOA5, APOC2, AQP2, ARG1, ARSA, ARSB, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AVPR2, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, CA5A, CAD, CARD11, CASR, CBS, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CDCA8, CFTR, CIITA, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, CORO1A, CPOX, CPS1, CPT1A, CPT2, CTNS, CTPS1, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP11B1, CYP11B2, CYP17A1, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DBT, DCLRE1C, DDC, DGAT1, DHFR, DLD, DMD, DNAJC12, DNAJC21, DOCK2, DUOX2, DUOXA2, EFL1, ELANE, ETFA, ETFB, ETFDH, ETHE1, F8, F9, FAH, FBP1, FCHO1, FECH, FGA, FLAD1, FOLR1, FOXE1, FOXN1, FOXP3, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA2, GATM, GBA1, GBE1, GBP1, GCDH, GCH1, GCK, GCSH, GFI1, GGCX, GJB2, GJB6, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GOT2, GPIHBP1, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAX1, HBB, HCFC1, HESX1, HLCS, HMBS, 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, LDHA, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, MAGT1, MALT1, MAN2B1, MAP3K14, MC2R, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, 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, PC, PCBD1, PCCA, PCCB, PCK1, PDXK, PFKM, PGAM2, PGM1, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PLPBP, PNP, PNPO, POU1F1, PPOX, PRF1, PRKDC, PROP1, PSAT1, PSPH, PTPRC, PTS, PYGL, PYGM, QDPR, RAC2, RAG1, RAG2, RAPSN, RASGRP1, RB1, RFX5, RFXANK, RFXAP, RORC, SBDS, SCNN1A, SCNN1B, SCNN1G, SGSH, SH2D1A, SI, SLC12A1, SLC16A1, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A3, SLC26A4, SLC26A7, SLC27A5, SLC2A1, SLC2A2, SLC35A2, SLC37A4, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC6A5, SLC6A6, SLC7A7, SLC7A9, SMN1, SMPD1, SORD, SPR, SRP54, STAR, STAT1, STX11, STXBP2, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TCN2, TFRC, TG, TH, THAP11, THRA, TJP2, TK2, TPK1, TPO, TPP1, TRH, TRHR, TRPM6, TSHB, TSHR, TTPA, TUBB1, UGT1A1, UNC13D, UNG, UROD, UROS, USP53, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP, ZAP70, ZNF143
