{"product_id":"painel-genetico-para-disturbios-do-neurodesenvolvimento-expandido-ngs","title":"Painel Genético para Distúrbios do Neurodesenvolvimento | ~750 Genes | NGS + CNV","description":"\u003cp\u003ePainel genético amplo, por \u003cstrong\u003esequenciamento de nova geração (NGS) com análise de CNV\u003c\/strong\u003e, que investiga cerca de \u003cstrong\u003e750 genes\u003c\/strong\u003e associados a distúrbios do neurodesenvolvimento.\u003c\/p\u003e\n\u003cp\u003eOs distúrbios do neurodesenvolvimento têm origem no período gestacional ou na infância e envolvem déficits na interação social e nas habilidades de comunicação, com impacto no desempenho social e acadêmico. O espectro vai de transtornos de aprendizagem a deficiências intelectuais.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eCondições relacionadas:\u003c\/strong\u003e\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003eTranstorno do Espectro Autista (TEA);\u003c\/li\u003e\n\u003cli\u003eTranstorno de Déficit de Atenção e Hiperatividade (TDAH);\u003c\/li\u003e\n\u003cli\u003edeficiência intelectual;\u003c\/li\u003e\n\u003cli\u003edistúrbios de aprendizagem;\u003c\/li\u003e\n\u003cli\u003eSíndrome de Rett;\u003c\/li\u003e\n\u003cli\u003etranstorno global do desenvolvimento sem outra especificação (PDD-NOS);\u003c\/li\u003e\n\u003cli\u003etranstorno desintegrativo da infância;\u003c\/li\u003e\n\u003cli\u003edistrofia neuroaxonal infantil.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e\u003cstrong\u003eIndicações:\u003c\/strong\u003e atraso na fala ou no desenvolvimento motor, dificuldades persistentes de aprendizagem e atenção, deficiência intelectual sem causa definida, investigação etiológica em quadros do neurodesenvolvimento já diagnosticados clinicamente e aconselhamento genético familiar.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eInterpretação do resultado:\u003c\/strong\u003e o exame não diagnostica autismo nem TDAH. Esses diagnósticos são clínicos, feitos por avaliação especializada com base em critérios de comportamento e desenvolvimento. O painel busca uma causa genética que possa explicar o quadro — informação que orienta prognóstico, aconselhamento familiar e, em algumas condições, conduta específica. Um resultado sem alterações não afasta o diagnóstico clínico.\u003c\/p\u003e\n\u003cp\u003eO painel não cobre expansões de repetições, como no X frágil, que exigem metodologia específica. Podem ser identificadas variantes de significado incerto (VUS), que exigem acompanhamento.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eMetodologia:\u003c\/strong\u003e sequenciamento de nova geração (NGS) com análise de variações no número de cópias (CNV), realizado em laboratório com selo de acreditação PALC\/CAP e classificação de variantes conforme padrões internacionais.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eColeta:\u003c\/strong\u003e autocoleta por swab bucal, com kit enviado para todo o Brasil e frete grátis de ida e volta. Não é necessário pedido médico.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003ePrazo:\u003c\/strong\u003e resultado em até 32 dias úteis após a chegada da amostra à Vinci.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsulta médica inclusa\u003c\/strong\u003e, que valida a indicação, emite a documentação necessária e interpreta o resultado.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eGenes analisados:\u003c\/strong\u003e AAS, AARS, AASS, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACY1, ADAR, ADGRG1, ADK, ADNP, ADSL, AFF2, AFF4, AFG3L2, AGA, AGPS, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALMS1, AMER1, AMPD2, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARFGEF2, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATP13A2, ATP1A1, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BLM, BMP4, BOLA3, BRAF, BRAT1, BRF1, BRWD3, BSCL2, BTD, BUB1B, C12orf4, C12orf57, C12orf65, C5orf42, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1G, CAMTA1, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC88C, CCND2, CDC42, CDC6, CDH15, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP83, CHAMP1, CHD2, CHD4, CHD7, CHD8, CHMP1A, CIC, CKAP2L, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNKSR2, CNNM2, CNOT3, CNTNAP2, COASY, COG1, COG4, COG5, COG7, COG8, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ4, COQ8A, COX10, COX15, COX6B1, CPS1, CRADD, CRB2, CREBBP, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTSA, CTSD, CUL4B, CUX2, CYB5R3, CYC1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCHS1, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DEAF1, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DIAPH1, DIS3L2, DKC1, DLD, DLG3, DMD, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK7, DOCK8, DOLK, DPAGT1, DPM1, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF4A3, ELAC2, ELOVL4, ELP2, EML1, EMX2, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXTL3, EZH2, FAM111A, FAM126A, FAM20C, FAR1, FAT4, FBXL4, FBXO11, FGD1, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FTCD, FTSJ1, FUCA1, FUT8, GABRA1, GABRB3, GABRG2, GALC, GALE, GALT, GAMT, GATAD2B, GATM, GCDH, GCH1, GDI1, GFAP, GFER, GFM1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GTF2H5, GTPBP3, GUSB, HACE1, HADH, HADHA, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMGCL, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, HYLS1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IKBKG, IL1RAPL1, INPP5E, INPP5K, IQSEC2, IRX5, ISPD, ITPR1, IVD, JAM3, KANSL1, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ5, KCNT1, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA1109, KIF11, KIF1A, KIF1BP, KIF5A, KIF5C, KIF7, KMT2A, KMT2C, KMT2D, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LGI4, LIG4, LINS1, LONP1, LRP2, LRPPRC, MAB21L2, MAF, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13L, MED17, MEF2C, MFF, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MRPS22, MSMO1, MTHFR, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NAGA, NAGLU, NALCN, NDE1, NDP, NDST1, NDUFA1, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGLY1, NHS, NIPBL, NKX2-1, NLGN3, NPC1, NPC2, NPHP1, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NUBPL, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, OTC, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PARN, PAX6, PAX8, PC, PCCA, PCCB, PCDH19, PCGF2, PCNT, PDE4D, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF6, PHF8, PHGDH, PHIP, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLK4, PLP1, PMM2, PNKP, PNPLA6, POGZ, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPM1D, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKD1, PRMT7, PRODH, PRPS1, PRSS12, PSAP, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, QARS, QDPR, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RARB, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROGDI, ROR2, RORA, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTEL1, RTTN, SAMD9, SAMHD1, SATB2, SC5D, SCAPER, SCN1A, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SERAC1, SETBP1, SETD2, SETD5, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC25A1, SLC25A15, SLC25A22, SLC2A1, SLC33A1, SLC35A2, SLC35C1, SLC46A1, SLC4A4, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNAP29, SNRPB, SNX14, SOS1, SOX10, SOX11, SOX2, SOX3, SOX5, SOX9, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAG1, STAMBP, STIL, STRA6, STRADA, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TAF1, TAF6, TAT, TAZ, TBC1D23, TBC1D24, TBCE, TBCK, TBL1XR1, TBR1, TCF4, TCN2, TCTN2, TECPR2, TGIF1, TH, THOC2, THOC6, THRA, TMCO1, TMEM165, TMEM216, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMTC3, TPP1, TRAPPC9, TREX1, TRIM32, TRIO, TRIP12, TRIT1, TRMT10A, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UMPS, UNC80, UPF3B, UROC1, USP9X, VAMP1, VLDLR, VPS13B, VPS53, VRK1, WAC, WDPCP, WDR45, WDR45B, WDR62.\u003c\/p\u003e","brand":"Vinci Lab","offers":[{"title":"Padrão","offer_id":51644383428886,"sku":"PNEU","price":3980.0,"currency_code":"BRL","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0882\/1162\/0118\/files\/33_3a8ec69d-27c2-407a-aa20-7bb49ed30c27.jpg?v=1784143743","url":"https:\/\/vincilab.com.br\/products\/painel-genetico-para-disturbios-do-neurodesenvolvimento-expandido-ngs","provider":"Vinci Lab","version":"1.0","type":"link"}