BABYGENE |
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| Sinonimo | Triagem genética; Doenças autossômicas recessivas; | |
| Material | papel filtro - sangue EXT | |
| Volume | 1,0 mL | |
| Método | NGS- Sequenciamento de Próxima geração | |
| Volume Lab. | 1,0 mL | |
| Rotina | ||
| Código SUS | ||
| CBHPM | 0.00.00.00-0 | |
| Resultado | Após 20 dias uteis | |
| Temperatura | Ambiente | |
| Coleta | - Coletar a amostra de sangue em papel de filtro. - Preencher todos os dados do cartao de coleta. - Os cartoes devem secar em temperatura ambiente por no minimo 2 horas sem contato com outras substancias ou outros cartoes. - Enviar junto com a amostra o Termo de Consentimento - Teste Sequenciamento Genetico de Nova Geracao em Papel Filtro (REQ 04891) e uma copia do pedido medico. | |
| Interpretação | A triagem genética pré-natal detecta doenças genéticas; como erros inatos do metabolismo; alterações imunológicas; renais; endócrinas; entre outras. GENE|COMPOSIÇÃO ANALISADO: ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, ADAMTS13, ADGRV1, AGA, AGL, AHCY, AICDA, AK2, AKR1D1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALPL, AMACR, AMT, AP1S1, APOA5, AQP2, ARG1, ARSA, ARSB, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AUH, AVPR2, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, CACNA1C, CARD11, CASR, CBLIF, CBS, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CDH23, CFTR, CIITA, CLCNKA, CLCNKB, CLDN16, CLDN19, CLRN1, CNGA3, COL1A1, COL1A2, COQ5, COQ8A, CORO1A, CP, CPS1, CPT1A, CPT2, CTNS, CXCR4, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DMD, DNAJC19, DNMT3B, DOCK8, DUOX2, DUOXA2, EDN3, ELANE, ETFA, ETFB, ETFDH, ETHE1, EYA1, F8, F9, FAH, FBN1, FBP1, FGFR1, FGFR2, FGFR3, FOLR1, FOXE1, FOXI1, FOXN1, FOXP3, FUCA1, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA2, GATM, GBA, GBE1, GCDH, GCH1, GCK, GFI1, GGCX, GH1, GJB2, GJB6, GLA, GLDC, GLIS3, GLRA1, GLRB, GLUL, GNMT, GPIHBP1, GRIN1, GRIN2A, GRIN2B, GSS, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAX1, HBA1, HBA2, HBB, HCFC1, HESX1, HIBCH, HLCS, HMGCL, HMGCS2, HPD, HSD11B2, HSD17B10, HSD3B2, HSD3B7, IDS, IDUA, IFNGR1, IFNGR2, IGLL1, IGSF1, ELP1, IKBKB, IL12B, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, IRS4, ITK, IVD, IYD, JAK3, KCNJ1, KCNJ10, KCNJ11, KCNQ2, LCK, LCT, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, MAGT1, MALT1, MAN2B1, MAP3K14, MAT1A, MC2R, MCCC1, MCCC2, MCEE, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPI, MPL, MPO, MRAP, MTHFR, MTHFS, MTR, MTRR, MTTP, MMUT, MYD88, MYH9, MYO15A, MYO6, MYO7A, NAGS, NCF2, NCF4, NEUROG3, NFKB2, NHEJ1, NKX2-1, NKX2-5, NLRP3, NNT, NPC1, NPC2, NR0B1, OPA3, ORAI1, OTC, OTOF, OTX2, OXCT1, PAH, PAX8, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PGM1, PHEX, PHGDH, PHKA2, PHKB, PHKG2, PIGM, PIGO, PIK3CD, PIK3R1, PMM2, PNP, PNPO, POU1F1, POU3F4, PRF1, PRKDC, PROP1, PRPS1, PRRT2, PSAT1, PSPH, PTPRC, PTS, PYGL, QDPR, RAC2, RAG1, RAG2, RASGRP1, RB1, RFX5, RFXANK, RFXAP, RYR1, SAMD9, SCN2A, SCN8A, SCNN1A, SCNN1B, SCNN1G, SH2D1A, SI, SIX1, SIX5, SLC12A1, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A3, SLC26A4, SLC27A5, SLC2A1, SLC2A2, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC4A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC6A5, SLC6A6, SLC6A8, SLC7A7, SLC7A9, SMN1, SMPD1, SOX3, SPR, SRY, STAR, STAT1, STAT3, STX11, STXBP2, TAP2, TAT, TAZ, TBL1X, TBX19, TCN2, TFRC, TG, TH, THRA, THRB, TJP2, TK2, TMC1, TMIE, TMPRSS3, TPK1, TPO, TPP1, TRHR, TRPM6, TSHB, TSHR, TTPA, TUBB1, UGT1A1, UNC13D, UNG, UROS, USH1C, USH1G, USH2A, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP, ZAP70. | |
| Referência | ||
Barra Velha
Piçarras
Barra Velha
