A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular de doenças hereditárias e tornou-se uma abordagem essencial à prática clínica diária em múltiplas especialidades médicas.

A Genetyca-ICM by Atrys disponibiliza um conjunto alargado de painéis dirigidos e baseados em exoma, garantindo uma maior sensibilidade e especificidade para cada teste.


Enquanto que os painéis dirigidos permitem uma melhor cobertura dos genes incluídos em cada painel, principalmente no caso de existirem pseudogenes ou regiões de elevada homologia, os painéis baseados em exoma permitem uma análise mais alargada e personalizada assim como reanálise e/ou alargamento de acordo com a evolução clínica.


  • Autismo (Painel NGS de 651 genes)
  • Baixa Estatura (Painel NGS de 166 genes)
  • Ciliopatias (Painel NGS de 202 genes)
  • Craniossinostose (Painel NGS de 28 genes)
  • Défice intelectual (Painel NGS de 1246 genes)
  • Displasias esqueléticas (Painel NGS de 514 genes)
  • Doença inflamatória intestinal (Painel NGS de 67 genes)
  • Doenças do tecido conjuntivo (Painel NGS de 80 genes)
  • Genes nucleares associados a doenças mitocondriais (Painel NGS de 342 genes)
  • Hiperglicemia (Painel NGS de 51 genes)
  • Hipoglicemia (Painel NGS de 75 genes)
  • Imunodeficiência combinada sindrómica (Painel NGS de 36 genes)
  • Imunodeficiência comum variável (Painel NGS de 18 genes)
  • Imunodeficiência primária (Painel NGS de 392 genes)
  • Imunodeficiência combinada grave (Painel NGS de 89 genes)
  • Microcefalia (Painel NGS de 116 genes)
  • Neuropediatria (Painel NGS de 2101 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Obesidade não sindrómica (Painel NGS de 25 genes)
  • Obesidade sindrómica (Painel NGS de 311 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Osteogénese imperfeita (Painel NGS de 56 genes)
  • Raquitismo hipofosfatémico (Painel NGS de 13 genes)
  • Rasopatias (Painel NGS de 25 genes)
  • Síndrome autoinflamatório (Painel NGS de 94 genes)
  • Síndrome de Cornelia de Lange (Painel NGS de 5 genes)
  • Síndrome de Rett/Angelman (Painel NGS de 49 genes)
  • Síndrome de Stickler (Painel NGS de 9 genes)
  • Síndrome de Zellweger (Painel NGS de 14 genes)
  • Síndromes neurocutâneos (Painel NGS de 71 genes)
  • Surdez (Painel NGS de 343 genes – inclui análise dos 37 genes do DNA mitocondrial)
Autismo (Painel NGS de 651 genes)

ABAT, ABCA13, ACHE, ACTL6B, ACY1, ADA, ADCY5, ADNP, ADORA2A, ADRB2, ADSL, AFF2, AGAP1, AGMO, AGO1, AGO3, AGTR2, AHDC1, AHI1, AKAP9, AKT1, ALDH1A3, ALDH5A1, ALG13, ALG6, ALMS1, AMT, ANK2, ANK3, ANKRD11, AP1S2, APBA2, AR, ARHGAP32, ARHGEF9, ARID1B, ARID2, ARNT2, ARVCF, ARX, ASH1L, ASMT, ASPM, ASTN2, ASXL3, ATP10A, ATP1A1, ATP1A3, ATP2B2, ATRX, AUTS2, AVPR1A, AVPR1B, BAZ1B, BAZ2B, BBS4, BCKDK, BCL11A, BCORL1, BIRC6, BRAF, BRCA2, BRWD3, BST1, BTAF1, C12orf57, C4B, CA6, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA2D3, CACNB2, CADM1, CADPS2, CAMK2A, CAMK2B, CAPN12, CASK, CASZ1, CC2D1A, CCDC88C, CCNK, CD38, CDC42BPB, CDH10, CDH8, CDH9, CDK13, CDK8, CDKL5, CELF4, CEP135, CEP290, CEP41, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHKB, CHM, CHMP1A, CHRM3, CHRNA7, CIC, CLCN4, CLIP2, CLTCL1, CMIP, CNKSR2, CNOT1, CNOT3, CNR1, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, COMT, CREBBP, CSMD1, CSNK1E, CSNK2A1, CTCF, CTNNA2, CTNNA3, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CUX2, CYFIP1, CYP27A1, DAGLA, DDX3X, DEAF1, DEPDC5, DHCR7, DHX30, DIP2A, DISC1, DLG4, DLGAP1, DLGAP2, DLGAP3, DLX2, DLX6, DMD, DMPK, DMXL2, DNAH10, DNAH17, DNAH3, DNMT3A, DOCK4, DOCK8, DOLK, DPP10, DPP4, DPP6, DPYD, DPYSL2, DRD2, DRD3, DSCAM, DST, DYDC2, DYM, DYNC1H1, DYRK1A, EBF3, EEF1A2, EFR3A, EHMT1, EIF4E, ELAVL2, ELN, ELP4, EN2, EP300, EP400, EPHB2, EPPK1, ERBIN, ESR2, ESRRB, EXT1, FABP5, FAT1, FBN1, FBRSL1, FBXO11, FEZF2, FGFR1, FHIT, FLCN, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTSJ1, GABBR2, GABRA3, GABRA4, GABRB3, GABRD, GABRG3, GALNT10, GALNT14, GALNT2, GAMT, GATM, GIGYF1, GIGYF2, GJA5, GJA8, GLO1, GLRA2, GNAS, GP1BB, GPC6, GPHN, GPX1, GRIA1, GRIA3, GRID1, GRID2, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM5, GRM7, GTF2I, GTF2IRD1, HCFC1, HCN1, HDAC4, HDAC8, HDLBP, HECTD4, HECW2, HEPACAM, HERC2, HESX1, HIRA, HIVEP2, HIVEP3, HNF1B, HNRNPH2, HNRNPU, HOMER1, HOXA1, HPRT1, HRAS, HS3ST5, HSD11B1, HTR1B, HTR3A, HTR3C, HUWE1, ICA1, IGF1, IL1R2, IL1RAPL1, ILF2, IMMP2L, INTS1, IQSEC2, IRF2BPL, ITGB3, ITPR1, JARID2, JMJD1C, KANK1, KAT2B, KAT6A, KAT6B, KATNAL2, KCNAB2, KCNB1, KCNC1, KCND2, KCND3, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD13, KDM5B, KDM5C, KDM6A, KDM6B, KIF5C, KIRREL3, KLLN, KMT2A, KMT2C, KMT2E, KMT5B, KPTN, KRAS, LAMA1, LAMB1, LHX1, LIMK1, LNPK, LRBA, LRFN5, LRP2, LRRC1, LZTR1, MACROD2, MAGEL2, MAOA, MAOB, MAPK3, MARK1, MBD1, MBD4, MBD5, MBOAT7, MCPH1, MDGA2, MECP2, MED12, MED13L, MEF2C, MEGF10, MEGF11, MEIS2, MET, MFRP, MIB1, MID1, MIR137, MKRN3, MRTFB, MSL3, MTHFR, MTOR, MUC4, MYH10, MYH4, MYH9, MYO16, MYO5A, MYT1L, NAA15, NACC1, NAGA, NAV2, NBEA, NCKAP1, NCOR1, NDN, NDP, NEGR1, NEO1, NEXMIF, NF1, NFIA, NFIB, NFIX, NHS, NINL, NIPA1, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NOVA2, NPAP1, NR2F1, NR3C2, NR4A2, NRCAM, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NTNG1, NTNG2, NTRK1, NTRK2, NTRK3, NUAK1, NXPH1, OCRL, OPHN1, OTX2, OXT, OXTR, PACS1, PACS2, PAH, PAK1, PARD3B, PAX5, PAX6, PCCA, PCCB, PCDH10, PCDH15, PCDH19, PCDH9, PCDHA11, PCDHA2, PCDHA5, PCDHA7, PDE4D, PER1, PHF2, PHF21A, PHF8, PHIP, PIK3CA, PIK3R2, PITX1, PLCB1, PLXNA3, PLXNA4, PLXND1, POGZ, POLR3A, POMGNT1, PON1, POU3F3, PPM1D, PPP2CA, PPP2R1B, PPP2R5D, PQBP1, PRDM16, PRKAR1A, PRKCB, PRKD1, PRKDC, PRKN, PRODH, PROKR2, PRUNE2, PSD3, PTCHD1, PTEN, PTGS2, PTK7, PTPN11, PTPRC, PTPRT, PXDN, QRICH1, RAB11FIP5, RAB2A, RAB39B, RAC1, RAD21, RAI1, RALA, RALGAPB, RANBP17, RAPGEF4, RBFOX1, RELN, RERE, REV3L, RFC2, RFX3, RGS7, RHEB, RIMS1, RLIM, ROBO2, RORA, RORB, RPL10, RPS6KA3, RREB1, RSRC1, SATB2, SBF1, SCN1A, SCN2A, SCN8A, SCN9A, SDHB, SDHC, SDHD, SEC23B, SEC24C, SEMA3E, SEMA5A, SETBP1, SETD1B, SETD2, SETD5, SEZ6L2, SF3B1, SGSH, SGSM3, SH2B1, SHANK1, SHANK2, SHANK3, SIK1, SIM1, SIN3A, SKI, SLC12A5, SLC1A1, SLC1A2, SLC25A12, SLC35C1, SLC45A1, SLC4A10, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC9A6, SLC9A9, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SMC1A, SMC3, SNAP25, SND1, SNRPN, SNTG2, SNX14, SON, SORCS3, SOX2, SOX3, SOX5, SOX6, SPAST, SPEN, SRCAP, SRGAP3, ST8SIA2, STAG1, STK39, STS, STX1A, STXBP1, STXBP5, SUPT16H, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYT1, TAF1, TANC2, TAOK2, TBC1D20, TBC1D23, TBC1D5, TBL1XR1, TBL2, TBR1, TBX1, TCF12, TCF20, TCF4, TCF7L2, TECTA, TET3, THRA, TLK2, TM4SF20, TMLHE, TNRC6B, TOP3B, TRAF7, TRAPPC6B, TRAPPC9, TRIO, TRIP12, TRRAP, TSC1, TSC2, TSPAN7, TSPOAP1, TTI2, TTN, UBE3A, UBR5, UFD1, UIMC1, UNC13A, UNC80, UPF2, UPF3B, USH2A, USP7, USP9X, VAMP2, VDR, VPS13B, WAC, WASF1, WDFY3, WDFY4, WDR26, WFS1, WNK3, WWOX, XPC, XPO1, YTHDC2, YWHAE, YWHAG, YY1, ZBTB20, ZEB2, ZMYM2, ZMYND11, ZNF292, ZNF407, ZNF462, ZNF559, ZNF804A, ZSWIM6

Baixa Estatura (Painel NGS de 166 genes)

ACAN, ACTB, ACTG1, ADAMTS10, ADAMTS2, AGA, AGPS, ALDH18A1, ALMS1, AMER1, AMMECR1, ANTXR2, ARCN1, ARID1B, ATP8B1, ATR, B3GALT6, B3GAT3, BCS1L, BRAF, CANT1, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CKAP2L, COL10A1, COL1A1, COL1A2, COL27A1, COL2A1, COL9A2, COL9A3, COMP, COX7B, CREBBP, CRIPT, CTNNB1, CTSA, CUL7, DHCR24, DHCR7, DLL3, DLX5, DONSON, DVL1, DVL3, EP300, ERCC4, ERCC6, EVC, EVC2, FAM111A, FBN1, FGD1, FGFR1, FGFR3, FLNB, FN1, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GMNN, GNAS, GORAB, HADH, HCCS, HDAC8, HESX1, HHAT, HOXD13, HRAS, HSPA9, IDS, IDUA, IGF1, IGF1R, IGFALS, INPP5K, INPPL1, INSR, IRS1, KAT6B, KIF11, KRAS, LARP7, LBR, LHX3, LHX4, LTBP3, LZTR1, MAP2K1, MAP2K2, MAP3K7, MBTPS2, MESP2, MYO18B, NDUFB11, NIN, NIPBL, NOTCH2, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PCNT, PCYT1A, PDE4D, PEX7, PIEZO2, PIK3R1, PITX2, PNPLA6, POC1A, POU1F1, PRKAR1A, PROP1, PTDSS1, PTH1R, PTPN11, PYCR1, RAD21, RAF1, RASA2, RBBP8, RIT1, RNU4ATAC, RRAS, RTTN, RUNX2, SHOC2, SHOX, SIL1, SLC26A2, SLC39A13, SMAD4, SMARCA2, SMC1A, SMC3, SOS1, SOX2, SOX3, SRCAP, STAT5B, TBCE, TBX19, TBX3, TBX6, TCTN3, TKT, TRIM37, TRIP11, TRPV4, WNT5A, XRCC4, XYLT1

Ciliopatias (Painel NGS de 202 genes)

ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, CC2D2A, CCDC103, CCDC172, CCDC28B, CCDC39, CCDC40, CCDC65, CCDC96, CCNO, CCNQ, CDH23, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP295, CEP41, CEP83, CFAP298, CFAP410, CFAP418, CFAP53, CFTR, CLRN1, CPE, CPLANE1, CRB1, CRB2, CRELD1, CRX, CSPP1, DCDC2, DDX59, DEUP1, DHCR7, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DZIP1L, EVC, EVC2, EXOC8, FAM166B, FOXH1, GANAB, GAS2L2, GAS8, GDF1, GLI2, GLI3, GLIS2, GUCY2D, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IFT81, IMPDH1, INPP5E, INVS, IQCB1, KATNIP, KCNJ13, KIAA0586, KIAA0753, KIF14, KIF7, LCA5, LEFTY2, LRAT, LRRC34, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MRE11, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PCARE, PCDH15, PDE6D, PIEZO2, PKD1, PKD2, PKHD1, PMM2, PNPLA6, POC1B, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCAPER, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TRIM32, TSC1, TSC2, TTC21B, TTC23, TTC6, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, USP9X, VHL, WDPCP, WDR19, WDR35, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423

Craniossinostose (Painel NGS de 28 genes)

CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MASP1, MEGF8, MSX2, P4HB, POR, RAB23, RECQL4, RSPRY1, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1

Défice intelectual (Painel NGS de 1246 genes)

AAAS, AARS1, AASS, ABCC6, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACAT1, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACY1, ADAR, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFF4, AFG3L2, AGA, AGL, AGPS, AGTR2, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKR1C2, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALS2, ALX3, ALX4, AMER1, AMPD2, AMT, ANK3, ANKH, ANKRD11, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSL, ARX, ASAH1, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATP8A2, ATR, ATRX, AUH, AUTS2, AVPR1A, AVPR2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11A, BCOR, BCS1L, BDNF, BIN1, BLM, BMP4, BOLA3, BPNT2, BRAF, BRAT1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C12orf57, C12ORF65, C19ORF12, C2CD3, C8orf37, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1H, CACNB4, CACNG2, CAMK2A, CAMK2B, CAMTA1, CANT1, CARS2, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC22, CCDC78, CCDC8, CCDC88C, CCND2, CDC42, CDC45, CDC6, CDH11, CDH15, CDH3, CDK13, CDK16, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP290, CEP41, CEP57, CEP63, CEP83, CERT1, CHAMP1, CHD2, CHD4, CHD7, CHD8, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHSY1, CIC, CISD2, CIT, CKAP2L, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNTNAP2, CNTNAP5, COA8, COASY, COG1, COG4, COG5, COG7, COG8, COL11A1, COL18A1, COL1A1, COL2A1, COL4A1, COL4A2, COL4A3BP, COL9A1, COLEC11, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, COX7B, CP, CPA6, CPLANE1, CPS1, CRADD, CRB2, CRBN, CREBBP, CRPPA, CSF1R, CSNK2A1, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL4B, CUL7, CYB5R3, CYC1, CYP1B1, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCC, DCHS1, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR24, DHCR7, DHFR, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLAT, DLD, DLG3, DLGAP2, DMD, DMXL2, DNAJC12, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK4, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPM1, DPM3, DPP10, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EBF3, EBP, EDA, EDNRA, EDNRB, EED, EEF1A2, EFHC1, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2S3, ELAC2, ELOVL4, ELP2, EML1, EMX2, EP300, EPB41L1, EPG5, EPM2A, EPRS1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXT2, EXTL3, EYA1, EZH2, FAAH2, FAH, FAM111A, FAM126A, FAM20C, FANCB, FANCG, FAR1, FAT4, FBN1, FBN2, FBXL4, FBXO11, FGD1, FGF12, FGF14, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FOLR1, FOXC1, FOXE3, FOXG1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FRMPD4, FTCD, FTL, FTO, FTSJ1, FUCA1, G6PC3, GAA, GABRA1, GABRB3, GABRG2, GAD1, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDI1, GFAP, GFER, GFM1, GHR, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLRA1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNB1, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSPT2, GSS, GTF2H5, GTPBP3, GUSB, H1-4, HACE1, HADH, HADHA, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMGB3, HNRNPH2, HNRNPK, HNRNPU, HOXA1, HOXC13, HPD, HPGD, HPRT1, HPS1, HRAS, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, HTT, HUWE1, HYLS1, IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT172, IFT43, IGBP1, IGF1, IGF1R, IGF2, IKBKG, IL11RA, IL1RAPL1, IMMP2L, IMPA1, INPP5E, INPP5K, INSR, IQSEC2, IRF6, IRX5, ITGA7, ITPR1, IVD, JAG1, JAM3, KANSL1, KARS1, KAT6A, KAT6B, KATNAL2, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ5, KCNT1, KCTD1, KCTD13, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF1A, KIF1BP, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLF8, KLHL15, KMT2A, KMT2C, KMT2D, KMT5B, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LAS1L, LBR, LGI1, LGI4, LHX3, LIG4, LINS1, LMBRD1, LONP1, LRP2, LRP5, LRPPRC, LYST, LZTR1, MAB21L2, MACF1, MAF, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAPK8IP3, MARS2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MEF2C, MEGF8, MFF, MFSD2A, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MRAP, MRPS22, MSMO1, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTR, MTRR, MVK, MYCN, MYO5A, MYO7A, MYT1L, NAA10, NACC1, NAGA, NAGLU, NALCN, NANS, NBN, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECTIN1, NEDD4L, NEGR1, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPBL, NKX2-1, NLGN3, NLGN4X, NONO, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR2F1, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSUN2, NT5C2, NTNG1, NTRK1, NUBPL, NUP107, NUP62, OBSL1, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, ORC1, ORC4, ORC6, OTC, OTUD6B, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PARN, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCDH9, PCGF2, PCNT, PDCD10, PDE10A, PDE4D, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PHGDH, PHKA2, PHKG2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PINK1, PIP5K1B, PITX2, PITX3, PLA2G6, PLAA, PLCB1, PLCE1, PLK4, PLP1, PLPBP, PMM2, PNKP, PNPLA6, PNPT1, POGZ, POLG, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PON3, PORCN, POU1F1, PPM1D, PPOX, PPP1CB, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKAR1A, PRKD1, PRMT7, PRODH, PRPS1, PRRT2, PRSS12, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTPN11, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, PYGL, QARS1, QDPR, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAF1, RAI1, RANBP2, RAPSN, RARB, RARS2, RBBP8, RBFOX1, RBM10, RBPJ, RECQL4, RELN, RERE, RFT1, RFX6, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, ROGDI, ROR2, RORA, RPGRIP1L, RPL10, RPS23, RPS6KA3, RRM2B, RTEL1, RTN4IP1, RTTN, RUNX2, RXYLT1, SACS, SAMD9, SAMHD1, SATB2, SC5D, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SERAC1, SETBP1, SETD5, SETX, SGPL1, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC2A1, SLC2A2, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A8, SLC45A1, SLC46A1, SLC4A4, SLC5A5, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SLC9A9, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMOC1, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPB, SNRPN, SNX14, SOBP, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX5, SOX9, SPART, SPAST, SPATA5, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, ST7, STAG1, STAMBP, STAT5B, STIL, STK3, STRA6, STRADA, STT3A, STT3B, STX11, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT14, SZT2, TACO1, TAF1, TAF13, TAF2, TAF6, TANGO2, TAT, TAZ, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TCF12, TCF4, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TECR, TET3, TFAP2A, TFAP2B, TGIF1, TH, THAP1, THOC2, THOC6, THRA, THRB, TIMM8A, TINF2, TK2, TM4SF20, TMCO1, TMEM126B, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMLHE, TMTC3, TOE1, TP63, TPH2, TPK1, TPP1, TRAPPC9, TREX1, TRHR, TRIM32, TRIM37, TRIO, TRIP12, TRIT1, TRMT10A, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UMPS, UNC80, UPB1, UPF3B, UQCRB, UQCRQ, UROC1, USP27X, USP9X, VAMP1, VLDLR, VPS13B, VRK1, VSX2, WAC, WASHC5, WDPCP, WDR13, WDR19, WDR35, WDR45, WDR45B, WDR62, WDR73, WDR81, WNT5A, WRAP53, WWOX, XPNPEP3, XRCC4, YAP1, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC1, ZIC2, ZMYM3, ZMYND11, ZNF148, ZNF292, ZNF335, ZNF41, ZNF507, ZNF674, ZNF711, ZNF804A, ZNF81, ZNHIT6, ZSWIM6

Displasias esqueléticas (Painel NGS de 514 genes)

ABCC9, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTSL2, ADGRV1, ADI1, AFF3, AGA, AGPS, AHI1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASXL1, ATP6V0A2, ATP7A, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDH23, CDH3, CDKN1C, CDT1, CEP120, CEP164, CEP290, CEP41, CFAP410, CFTR, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRTAP, CRX, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, DDR2, DHCR24, DHODH, DIS3L2, DLL3, DLX3, DLX5, DLX6, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DPM1, DPM2, DPM3, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXT1, EXT2, EZH2, FAM111A, FAM20C, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, FN1, FOXC1, FOXH1, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GMNN, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IDH1, IDH2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INVS, IQCB1, KAT6A, KAT6B, KCNJ13, KIF22, KIF7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LTBP2, MAFB, MAN2B1, MAN2C1, MAP3K7, MATN3, MEGF8, MEOX1, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3R1, PIN1, PIR, PITX1, PKD2, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PPP3CA, PRKAR1A, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIPPLY2, RMRP, ROBO3, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SULF1, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TERT, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TOPORS, TP63, TRAPPC2, TREM2, TRIM32, TRIP11, TRMT10A, TRPS1, TRPV4, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TWIST2, TYROBP, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, WDPCP, WDR19, WDR35, WHRN, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XPNPEP3, XRCC4, XYLT1, XYLT2, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF423

Doença inflamatória intestinal (Painel NGS de 67 genes)

ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MALT1, MASP2, MEFV, MVK, MYO5B, NCF1, NCF2, NCF4, NEUROG3, NLRC4, NPC1, OTULIN, PIK3CD, PIK3R1, PLCG2, PTEN, RAG1, RAG2, RIPK2, RTEL1, SAMD9, SH2D1A, SKIV2L, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TRIM22, TTC37, TTC7A, WAS, XIAP, ZAP70

Doenças do tecido conjuntivo (Painel NGS de 80 genes)

ACTA2, ABCC6, ABL1, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, HCCS, LOX, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NDUFB11, NOTCH1, P3H1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, ZDHHC9, ZNF469

Genes nucleares associados a doenças mitocondriais (Painel NGS de 342 genes)

AARS2, AASS, ABAT, ABCB7, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH3A2, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, APTX, ATL1, ATP5F1A, ATP5F1E, ATP5MC3, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C12ORF65, C19orf12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CRAT, CYB5R3, CYC1, CYCS, CYP27A1, D2HGDH, DARS1, DARS2, DBT, DDHD1, DECR1, DGUOK, DHODH, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, EPRS1, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH1, IDH2, IDH3B, ISCA1, ISCA2, ISCU, IVD, KARS1, KIF1B, KIF5A, L2HGDH, LAMP2, LARS1, LARS2, LIAS, LIPT1, LIPT2, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MICOS13, MICU1, MLYCD, MMAA, MMAB, MMADHC, MMUT, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MSTO1, MTFMT, MTO1, MTPAP, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NR2F1, NUBPL, OAT, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PINK1, PNKD, PNPLA2, PNPLA8, PNPT1, POLG, POLG2, PPOX, PRKAG2, PRKN, PUS1, QARS1, RARS1, RARS2, REEP1, RMND1, RNASEH1, RRM2B, SACS, SAMHD1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC33A1, SLC52A2, SLC6A8, SPART, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TANGO2, TARS2, TAZ, TFAM, TIMM44, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRAP1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, WWOX, XPNPEP3, YARS2, YWHAE

Hiperglicemia (Painel NGS de 51 genes)

ABCC8, AGPAT2, AGPS, AIRE, AKT2, ALMS1, APPL1, AQP2, AVP, AVPR2, BLK, BSCL2, CAV1, CEL, CIDEC, COQ2, COQ9, DCAF17, DMXL2, DNAJC3, DYRK1B, EIF2AK3, EIF2S3, ENPP1, FOXC2, FOXP3, GATA4, GATA6, GCK, GLIS3, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, KCNJ11, KLF11, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC19A2, WFS1, ZFP57

Hipoglicemia (Painel NGS de 75 genes)

ABCC8, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACSF3, AGL, AKT2, AKT3, ALDOB, BCKDHA, BCKDHB, CA5A, CACNA1C, CPT1A, CPT2, DBT, DGUOK, DIS3L2, DLD, ETFA, ETFB, ETFDH, FBP1, G6PC1, GALT, GBE1, GCK, GHR, GK, GLUD1, GPC3, GYS2, HADH, HADHA, HADHB, HMGCL, HMGCS2, HNF1A, HNF4A, HRAS, INSR, KCNJ11, KMT2B, KMT2D, MLYCD, MPI, MPV17, NNT, NSD1, OXCT1, PC, PCK1, PCK2, PGM1, PHKA2, PHKB, PHKG2, PIK3CA, PMM2, POLG, PRKAG2, PYGL, RNF125, SLC16A1, SLC22A5, SLC25A13, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TANGO2, UCP2

Imunodeficiência combinada sindrómica (Painel NGS de 36 genes)

ACD, ATM, CHD7, CTC1, DCLRE1B, DKC1, DNMT3B, EPG5, FOXN1, NBN, NFKBIA, NHP2, NOP10, ORAI1, PARN, PGM3, PMS2, POLE, RMRP, RTEL1, SEMA3E, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, TTC7A, WAS, WIPF1, ZBTB24

Imunodeficiência comum variável (Painel NGS de 18 genes)

ATP6AP1, CD19, CD81, CR2, IKZF1, IRF2BP2, MOGS, MS4A1, NFKB1, NFKB2, PIK3CD, PIK3R1, PTEN, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37

Imunodeficiência primária (Painel NGS de 392 genes)

ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, AP3D1, ARHGEF1, ARMC4, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, CYBC1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4BPA, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLPB, COLEC11, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DDX58, DGKE, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DTNBP1, EFL1, ELANE, EPG5, ERCC2, ERCC3, ERCC6L2, EXTL3, FADD, FANCA, FANCB, FANCE, FANCF, FANCI, FANCL, FAS, FASLG, FAT4, FCHO1, FCN3, FERMT3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA2, GFI1, GINS1, GTF2H5, HAX1, HELLS, HPS1, HPS3, HPS4, HPS5, HPS6, HYDIN, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7R, IRAK4, IRF2BP2, IRF7, IRF8, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MASP1, MASP2, MCM4, MEFV, MKL1, MOGS, MRE11, MS4A1, MSN, MTHFD1, MVK, MYD88, MYO5A, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OFD1, ORAI1, OSTM1, OTULIN, PARN, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMM2, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RECQL4, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPSA, RSPH1, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STN1, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, THBD, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZMYND10, ZNF341

Imunodeficiência combinada grave (Painel NGS de 89 genes)

ACD, ADA, AK2, ATM, B2M, BCL11B, BLM, CARD11, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, CTPS1, DCLRE1C, DNMT3B, DOCK2, DOCK8, EPG5, FOXN1, ICOS, IFNGR1, IKBKB, IL12RB1, IL21, IL21R, IL2RA, IL2RG, IL7R, IRF8, ITGB2, ITK, JAK3, LAT, LCK, LIG4, LRBA, MAGT1, MALT1, MAP3K14, MSN, NFKBIA, NHEJ1, NSMCE3, ORAI1, PARN, PGM3, PIK3CD, PMS2, PNP, POLE, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP, RTEL1, SH2D1A, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TBX1, TFRC, TNFRSF4, TTC7A, TYK2, UNC119, WAS, ZAP70, ZBTB24

Microcefalia (Painel NGS de 116 genes)

AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ASNS, ASPM, ASXL3, ATR, ATRIP, ATRX, BUB1B, CASC5, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CKAP2L, CLP1, COX7B, CREBBP, CRIPT, DIAPH1, DNA2, DNM1L, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GMNN, HMGB3, IER3IP1, KATNB1, KIF11, KIF14, KIF2A, KIF5C, KNL1, LIG4, MAP11, MBD5, MCPH1, MED17, MFSD2A, MIR17HG, MRE11, MSMO1, MYCN, NBN, NDE1, NHEJ1, NIN, NR2E1, NSMCE2, OPHN1, ORC1, ORC4, ORC6, PAFAH1B1, PCLO, PCNT, PHC1, PHGDH, PLEKHG2, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, PSAT1, PSPH, PYCR2, QARS, QARS1, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC1A4, SLC25A19, SLC9A6, SPATA5, STAMBP, STIL, THOC6, TRAIP, TRMT10A, TSEN2, TSEN34, TSEN54, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62, WDR73, XRCC4, ZEB2, ZNF335

Neuropediatria (Painel NGS de 2101 genes – inclui análise dos 37 genes do DNA mitocondrial)

AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB7, ABCC6, ABCC9, ABCD1, ABCD3, ABCD4, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACER3, ACO2, ACOX1, ACP2, ACP5, ACSL4, ACTA1, ACTB, ACTG1, ACTG2, ACTL6A, ACVR1, ACVR2B, ACY1, ADAMTS10, ADAMTS13, ADAMTSL2, ADAR, ADCY5, ADCY6, ADD3, ADGRG1, ADGRG6, ADGRV1, ADH1C, ADK, ADNP, ADRA2B, ADSL, ADSS1, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGTR2, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIPL1, AK2, AKR1C2, AKT1, AKT3, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALS2, ALX3, ALX4, AMACR, AMER1, AMPD1, AMPD2, AMT, ANG, ANK3, ANKH, ANKRD11, ANKS6, ANO10, ANO3, ANO5, ANTXR2, ANXA11, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOB, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF15, ARHGEF2, ARHGEF28, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARL6IP1, ARMC4, ARMC9, ARSA, ARSB, ARSI, ARSL, ARV1, ARX, ASAH1, ASCC1, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATL3, ATM, ATP10A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2B3, ATP5F1A, ATP5F1E, ATP5MC3, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN10, AUH, AUTS2, AVPR1A, AVPR2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BEAN1, BICD2, BIN1, BLM, BMP4, BOLA3, BPNT2, BRAF, BRAT1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, BVES, C12orf57, C12ORF65, C19ORF12, C1QBP, C21ORF2, C21orf59, C2CD3, C2orf71, C5orf42, C8orf3, C8orf37, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB4, CACNG2, CAD, CAMK2A, CAMK2B, CAMTA1, CANT1, CAPN1, CAPN3, CARS2, CASK, CASQ1, CAT, CAV3, CAVIN1, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC151, CCDC172, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC65, CCDC78, CCDC8, CCDC88C, CCDC96, CCND2, CCNF, CCNO, CCNQ, CCT5, CDC42, CDC45, CDC6, CDH11, CDH15, CDH23, CDH3, CDK13, CDK16, CDK5, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP295, CEP41, CEP57, CEP63, CEP83, CEP89, CERT1, CFAP298, CFAP41, CFAP53, CFL2, CFTR, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD2, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHN1, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHSY1, CIC, CISD2, CIT, CIZ1, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLTC, CLTCL1, CNBP, CNKSR2, CNNM2, CNTN1, CNTNAP1, CNTNAP2, CNTNAP5, COA5, COA6, COA8, COASY, COG1, COG4, COG5, COG7, COG8, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL2A1, COL4A1, COL4A2, COL4A3BP, COL6A1, COL6A2, COL6A3, COL9A1, COLEC11, COLGALT1, COLQ, COMT, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CP, CPA6, CPE, CPLANE, CPLANE1, CPS1, CPT1A, CPT1C, CPT2, CRADD, CRAT, CRB1, CRB2, CRBN, CREBBP, CRELD1, CRLF1, CRPPA, CRX, CRYAB, CSF1R, CSNK2A1, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNA2, CTNNB1, CTNND2, CTNS, CTSA, CTSC, CTSD, CTSF, CUL4B, CUL7, CWF19L1, CYB5R3, CYC1, CYCS, CYFIP2, CYP1B1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DAO, DARS1, DARS2, DBT, DCAF17, DCAF8, DCC, DCDC2, DCHS1, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDOST, DDX11, DDX3X, DDX59, DEAF1, DECR1, DEGS1, DENND5A, DEPDC5, DES, DEUP1, DGAT2, DGUOK, DHCR24, DHCR7, DHFR, DHODH, DHTKD1, DHX30, DIABLO, DIAPH1, DIP2B, DIS3L2, DISP1, DKC1, DLAT, DLD, DLG3, DLGAP2, DLL1, DMD, DMGDH, DMXL2, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNAL1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DOCK4, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPP10, DPP6, DPYD, DPYS, DRC1, DRD2, DRD5, DST, DYM, DYNC1H1, DYNC2H, DYNC2H1, DYNC2I, DYNC2L, DYNC2LI1, DYRK1A, DYSF, DZIP1L, EARS2, EBF3, EBP, ECEL1, ECHS1, ECM1, EDA, EDNRA, EDNRB, EED, EEF1A2, EEF2, EFHC1, EFNB1, EFTUD2, EGR2, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELAC2, ELOVL4, ELOVL5, ELP1, ELP2, ELP3, EMC1, EMD, EML1, EMX2, ENO3, ENTPD1, EP300, EPB41L1, EPG5, EPM2A, EPRS1, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN1, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EWSR1, EXOC8, EXOSC3, EXOSC8, EXOSC9, EXT2, EXTL3, EYA1, EZH2, FA2H, FAAH2, FADD, FAH, FAM111A, FAM126A, FAM166B, FAM20C, FAM58A, FANCB, FANCG, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO11, FBXO38, FBXO7, FDX2, FDXR, FGD1, FGD4, FGF12, FGF14, FGF8, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLNC, FLRT1, FLVCR1, FLVCR2, FMN2, FMO3, FOLR1, FOXC1, FOXE3, FOXG1, FOXH1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUCA1, FUS, FXN, G6PC3, GAA, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALE, GALNS, GALT, GAMT, GAN, GANAB, GARS1, GAS2L2, GAS8, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GDF1, GDI1, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GIGYF2, GJA1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLRA1, GLRX5, GLT8D1, GLUD1, GLUD2, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAL, GNAO1, GNAS, GNB1, GNB4, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GPR88, GPSM2, GRHPR, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRN, GSN, GSPT2, GSS, GTF2E2, GTF2H5, GTPBP3, GUCY2D, GUF1, GUSB, GYG1, GYG2, GYS1, H1-4, HACD1, HACE1, HADH, HADHA, HADHB, HARS1, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HINT1, HIVEP2, HK1, HLCS, HMGB3, HMGCL, HMGCS2, HNRNPA1, HNRNPA2B1, HNRNPDL, HNRNPH2, HNRNPK, HNRNPU, HOGA1, HOXA1, HOXB1, HOXC13, HOXD10, HPCA, HPD, HPGD, HPRT1, HPS1, HRAS, HSBP1, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTR2A, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYLS1, IARS1, IARS2, IBA57, IDH1, IDH2, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IFT81, IGBP1, IGF1, IGF1R, IGF2, IGHMBP2, IKBKG, IL11RA, IL1RAPL1, IMMP2L, IMPA1, IMPDH1, INF2, INPP5E, INPP5K, INSR, INVS, IQCB1, IQSEC2, IRF3, IRF6, IRX5, ISCA1, ISCA2, ISCU, ISG15, ITGA7, ITM2B, ITPA, ITPR1, IVD, JAG1, JAM3, JPH1, JPH3, KANK1, KANSL1, KARS1, KAT6A, KAT6B, KATNAL2, KATNB1, KATNIP, KBTBD13, KCNA1, KCNA2, KCNA4, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNJ13, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD13, KCTD17, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA05, KIAA0556, KIAA0586, KIAA07, KIAA0753, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLC4, KLF8, KLHL15, KLHL40, KLHL41, KLHL7, KLHL9, KMT2A, KMT2B, KMT2C, KMT2D, KMT5B, KNL1, KPNA7, KPTN, KRAS, KRIT1, KY, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA5, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LARS2, LAS1L, LBR, LCA5, LDB3, LDHA, LEFTY2, LGI1, LGI4, LHX3, LIAS, LIG4, LIMS2, LINS1, LIPA, LIPT1, LIPT2, LITAF, LMBRD1, LMNA, LMNB1, LMOD3, LONP1, LPIN1, LRAT, LRP2, LRP4, LRP5, LRPPRC, LRRC34, LRRC6, LRRK2, LRSAM1, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MAF, MAG, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K20, MAPK10, MAPK8IP3, MAPKBP, MAPKBP1, MAPT, MARS1, MARS2, MASP1, MAT1A, MATR3, MB, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCIDAS, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MEGF8, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICOS13, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMUT, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MR1, MRAP, MRE11, MRPL12, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MSMO1, MSTN, MSTO1, MSX1, MSX2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTOR, MTPAP, MTR, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MUSK, MVK, MYBPC1, MYBPC3, MYCN, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYO5A, MYO7A, MYO9A, MYOT, MYPN, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS2, NAXD, NAXE, NBN, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NEDD4, NEDD4L, NEFH, NEFL, NEGR1, NEK1, NEK8, NEU1, NEXMIF, NF1, NFIA, NFIX, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPA1, NIPBL, NKX2-1, NKX2-5, NKX6-2, NLGN3, NLGN4X, NLRP3, NME1, NME8, NODAL, NOL3, NONO, NOP56, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPRL2, NR2F1, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSUN2, NT5C2, NTNG1, NTRK1, NTRK2, NUBPL, NUP107, NUP62, OAT, OBSL1, OCLN, OCRL, OFD1, OGDH, OGT, OPA1, OPA3, OPHN1, OPTN, ORAI1, ORC1, ORC4, ORC6, OTC, OTUD6B, OTX2, OXCT1, PABPN1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PARN, PARS2, PAX6, PAX7, PAX8, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCDH9, PCGF2, PCK2, PCNT, PDCD10, PDE10A, PDE2A, PDE4D, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGV, PIH1D3, PIK3CA, PIK3R2, PIK3R5, PINK1, PIP5K1B, PIP5K1C, PITX2, PITX3, PKD1, PKD2, PKHD1, PLA2G6, PLAA, PLCB1, PLCE1, PLEC, PLEKHG2, PLEKHG5, PLK4, PLOD1, PLOD2, PLP1, PLPBP, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1B, PODXL, POGLUT1, POGZ, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON3, POR, PORCN, POU1F1, PPM1D, PPOX, PPP1CB, PPP1R15B, PPP2R1A, PPP2R2B, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PREPL, PRG4, PRICKLE1, PRKAG2, PRKAR1A, PRKCG, PRKD1, PRKN, PRKRA, PRMT7, PRNP, PRODH, PRPH, PRPS1, PRRT2, PRSS12, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSMB8, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTPN11, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS1, QDPR, RAB18, RAB23, RAB27A, RAB29, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RAC1, RAD21, RAF1, RAI1, RANBP2, RAPSN, RARB, RARS1, RARS2, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM7, RBPJ, RD3, RDH12, RECQL4, REEP1, REEP2, RELN, RERE, RETREG1, RFT1, RFX6, RIPK4, RIT1, RLIM, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF135, RNF170, RNF216, ROGDI, ROR2, RORA, RPE65, RPGR, RPGRIP, RPGRIP1, RPGRIP1L, RPL10, RPS23, RPS6KA3, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RTN2, RTN4IP1, RTTN, RUBCN, RUNX2, RXYLT1, RYR1, RYR3, SACS, SALL4, SAMD9, SAMHD1, SARS2, SATB2, SBF1, SBF2, SC5D, SCAPER, SCARB2, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SDCCAG, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SELENOI, SELENON, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD5, SETX, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SGSH, SH3TC2, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A3, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC45A1, SLC46A1, SLC4A4, SLC52A2, SLC52A3, SLC5A5, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A1, SLC9A6, SLC9A9, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMOC1, SMPD1, SMS, SNAP25, SNAP29, SNCA, SNIP1, SNRPB, SNRPN, SNX14, SOBP, SOD1, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX5, SOX9, SPAG1, SPART, SPAST, SPATA5, SPATA7, SPEG, SPG11, SPG21, SPG7, SPR, SPRED1, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A3, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, ST7, STAC3, STAG1, STAMBP, STAR, STAT5B, STIL, STIM1, STK3, STN1, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX1B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SYT2, SZT2, TACO1, TAF1, TAF13, TAF15, TAF2, TAF6, TANGO2, TARDBP, TARS2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBR1, TBX1, TCAP, TCF12, TCF4, TCN2, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDGF1, TECPR2, TECR, TELO2, TENM4, TET3, TFAM, TFAP2A, TFAP2B, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, THOC6, THRA, THRB, TIA1, TIMM44, TIMM8A, TIMMDC1, TINF2, TK2, TM4SF20, TMCO1, TMEM10, TMEM107, TMEM126A, TMEM126B, TMEM13, TMEM138, TMEM165, TMEM17, TMEM21, TMEM216, TMEM23, TMEM230, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TMEM70, TMLHE, TMTC3, TNK2, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOE1, TOPORS, TOR1A, TOR1AIP1, TP63, TPH2, TPI1, TPK1, TPM2, TPM3, TPO, TPP1, TRAF3, TRAF3I, TRAF3IP1, TRAP1, TRAPPC11, TRAPPC12, TRAPPC9, TREM2, TREX1, TRHR, TRIM2, TRIM32, TRIM37, TRIM63, TRIO, TRIP12, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC23, TTC25, TTC37, TTC6, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TWNK, TXN2, TYMP, TYROBP, UBA1, UBA5, UBE2A, UBE3A, UBE3B, UBQLN2, UBR1, UBTF, UCHL1, UMOD, UMPS, UNC13A, UNC80, UNG, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, USH1C, USH1G, USH2A, USP18, USP27X, USP8, USP9X, VAC14, VAMP1, VAPB, VARS2, VCP, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS33A, VPS33B, VPS35, VPS37A, VRK1, VSX2, VWA3B, WAC, WARS1, WARS2, WASHC5, WDPCP, WDR13, WDR19, WDR34, WDR35, WDR45, WDR45B, WDR60, WDR62, WDR73, WDR81, WFS1, WHRN, WNK1, WNT5A, WRAP53, WWOX, XK, XPNPEP3, XPR1, XRCC4, YAP1, YARS1, YARS2, YWHAE, YWHAG, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYM3, ZMYND10, ZMYND11, ZNF148, ZNF335, ZNF41, ZNF423, ZNF507, ZNF592, ZNF674, ZNF711, ZNF804A, ZNF81, ZNHIT6, ZSWIM6

Obesidade não sindrómica (Painel NGS de 25 genes)

ADCY3, ADRB2, ADRB3, AGRP, CARTPT, CEP19, DYRK1B, ENPP1, GHRL, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, PPP1R3A, SDC3, SH2B1, SIM1, TUB, UCP3

Obesidade sindrómica (Painel NGS de 311 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABCA4, ADNP, AFF4, AGBL5, AIP, AKT2, ALMS1, ANOS1, APC2, ApoE, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMC5, ARNT2, ARVCF, ATRX, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BEST1, BLK, BRAF, C8orf37, CA4, CACNA1S, CANT1, CCDC141, CDH23, CDHR1, CEP164, CEP19, CEP290, CERKL, CHD7, CLIP2, CLRN1, CNGA1, CNGB1, CNNM2, COMT, CRB1, CREBBP, CRX, CTNNB1, CTSH, CUL4B, CYP19A1, CYP7A1, DEAF1, DHDDS, DPYD, DUSP6, DYNC2I2, DYRK1B, EGF, EHMT1, EIF2S3, ELN, EP300, ERMARD, EYS, FAM161A, FEZF1, FGF17, FGF8, FGFR1, FGFR3, FLII, FLRT3, FMR1, FOXP1, FSCN2, FTO, GABRA3, GABRD, GATA4, GHR, GNAS, GP1BB, GTF2I, GTF2IRD1, GUCA1B, H6PD, HACE1, HCRT, HDAC4, HDAC8, HERC2, HESX1, HGSNAT, HIRA, HLA-DQB1, HLA-DRB1, HS6ST1, HSD11B1, HUWE1, IDH3B, IFT140, IFT172, IFT27, IFT74, IGF1, IGFALS, IL17RD, IMPDH1, IMPG2, INPP5E, IQSEC2, JMJD1C, KCNAB2, KCNJ18, KDM6A, KIDINS220, KIF7, KISS1R, KIZ, KLHL7, KMT2A, KMT2D, LAS1L, LEP, LEPR, LIMK1, LIPE, LRAT, LZTFL1, MAGEL2, MAK, MAN1B1, MC4R, MEGF8, MERTK, MKKS, MKRN3, MKS1, MLXIPL, MOG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYT1L, NDN, NEK2, NIPBL, NPAP1, NPHP1, NR0B2, NR2E3, NRL, NSD1, NSMF, NTRK2, OFD1, OTX2, P2RY11, PAX6, PCARE, PCNT, PCSK1, PDE11A, PDE4D, PDE6A, PDE6B, PDE6G, PDSS1, PHF6, PNPLA6, POMC, POMGNT1, PPARG, PRCD, PRDM16, PRKAR1A, PRMT7, PROK2, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PTEN, RAB23, RAD21, RAI1, RAP1A, RAP1B, RBMX, RBP3, RDH12, REEP6, RERE, RFC2, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RREB1, SAG, SDCCAG8, SEC24C, SEMA3A, SEMA4A, SETD2, SETD5, SH2B1, SHANK3, SHOX, SIM1, SIN3A, SKI, SLC25A4, SLC7A14, SLC7A7, SMAD4, SMC1A, SMC3, SNORD115-1, SNORD116-1, SNRNP200, SNRPN, SOX10, SOX2, SOX3, SPATA7, SPG11, SPRY4, SRY, STX16, TACR3, TBL2, TBX1, TBX3, THOC2, TMEM67, TNFSF4, TOPORS, TRAF3IP1, TRAPPC9, TRIM32, TTC8, TUB, TULP1, UBE3A, UFD1, USH2A, USP8, VPS13B, WDPCP, WDR11, WNT4, WT1, XRCC4, XYLT1, ZBTB20, ZDHHC15, ZNF365, ZNF408, ZNF513

Osteogénese imperfeita (Painel NGS de 56 genes)

ALPL, ANO5, ARCN1, B3GALT6, B3GAT3, B4GALT7, BMP1, CA2, CLCN5, CLCN7, COL1A1, COL1A2, CREB3L1, CRTAP, CTSK, DSPP, FGF23, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NBAS, NOTCH2, NTRK1, OSTM1, P3H1, P4HB, PHEX, PLEKHM1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SGMS2, SLC26A2, SLC2A2, SLC34A3, SNX10, SOX9, SP7, SPARC, TAPT1, TCIRG1, TENT5A, TMEM38B, TNFRSF11A, TNFSF11, TRPV6, WNT1, XYLT2

Raquitismo hipofosfatémico (Painel NGS de 13 genes)

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, PHEX, SLC34A1, SLC34A3, VDR

Rasopatias (Painel NGS de 25 genes)

A2ML1, BRAF, CBL, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1

Síndrome autoinflamatório (Painel NGS de 94 genes)

ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, AP3B1, BLOC1S6, BTK, CARD14, CD27, CD3G, CD40LG, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, ELANE, FOXP3, G6PC3, HAX1, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL2RA, IL2RG, IL36RN, ISG15, ITGB2, ITK, LIG4, LPIN2, LRBA, LYST, MEFV, MVK, NCF2, NCF4, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OTULIN, PIK3CD, PIK3R1, PLCG2, POLA1, POMP, PRF1, PSMB4, PSMB8, PSMB9, PSTPIP1, RAB27A, RAG1, RAG2, RBCK1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, SAMHD1, SH2D1A, SH3BP2, SLC29A3, SLC37A4, SLC7A7, STAT1, STAT3, STIM1, STING1, STX11, STXBP2, TNFAIP3, TNFRSF1A, TREX1, TRNT1, TTC7A, UNC13D, USP18, WAS, XIAP, ZAP70

Síndrome de Cornelia de Lange (Painel NGS de 5 genes)

HDAC8, NIPBL, RAD21, SMC1A, SMC3

Síndrome de Rett/Angelman (Painel NGS de 49 genes)

ADSL, ALDH5A1, ARX, ATRX, CAMK2B, CAV1, CDKL5, CNTNAP2, CTNNB1, DYNC1H1, DYRK1A, EHMT1, FOLR1, FOXG1, GABBR2, GABRA1, GRIN2B, HDAC8, IQSEC2, KANSL1, KCNA2, KCNQ2, KIF1A, MBD5, MECP2, MED17, MEF2C, NGLY1, NRXN1, NTNG1, OPHN1, PCDH19, PDHA1, PNKP, PPT1, PQBP1, ROGDI, SATB2, SCN2A, SCN8A, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, TRAPPC9, UBE3A, WDR45, ZEB2

Síndrome de Stickler (Painel NGS de 9 genes)

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, LRP2, VCAN

Síndrome de Zellweger (Painel NGS de 14 genes)

PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7

Síndromes neurocutâneos (Painel NGS de 71 genes)

A2ML1, ACTB, ACTG1, ANTXR2, ATM, BLM, BRAF, CBL, EDN3, EDNRB, EPCAM, ERCC4, HRAS, IKBKG, KAT6B, KIT, KITLG, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MITF, MLH1, MRAS, MRE11, MSH2, MSH6, NF1, NF2, NOTCH3, NRAS, NSUN2, PALB2, PAX3, PCNA, PDGFRB, PMS2, POGLUT1, POLA1, POLD1, POLE, PPP1CB, PTCH1, PTCH2, PTEN, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SLC2A2, SLX4, SMARCB1, SMARCE1, SNAI2, SOS1, SOS2, SOX10, SPRED1, SPRY1, SUFU, SUZ12, SYNGAP1, TSC1, TSC2, YWHAZ

Surdez (Painel NGS de 343 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABHD12, ABHD5, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, AQP4, ARSB, ASAH1, ATP1A2, ATP2B2, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BDP1, BMP4, BMP5, BSN, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CDC14A, CDC42, CDC6, CDH23, CDKN1C, CDT1, CEACAM16, CEMIP, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYL1, CRYM, DACT1, DCDC2, DHODH, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, DVL1, DVL3, ECE1, EDN3, EDNRA, EDNRB, EFTUD2, EIF4A3, ELMOD3, EPS8, EPS8L2, ERAL1, ERCC2, ERCC3, ESPN, ESRRB, EVC, EYA1, EYA4, FAS, FBXO2, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FKBP14, FOXC1, FOXI1, FOXI3, FRAS1, FREM2, GATA3, GDF6, GFER, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLI3, GNAI3, GPSM2, GRHL2, GRIP1, GRXCR1, GRXCR2, GSC, GSDME, GSTP1, GUSB, HAAO, HAL, HARS, HARS1, HARS2, HGF, HMX1, HMX2, HOMER2, HOXA1, HOXA2, HOXB1, HSD17B, HSD17B4, HSPA9, HTRA2, IGF1, ILDR1, JAG1, KARS, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KDM6A, KIT, KITLG, KMT2D, LARS2, LEMD3, LHFPL5, LHX3, LOXHD1, LRP2, LRTOMT, MAFB, MANBA, MARVEL, MARVELD2, MASP1, MCM2, MET, MITF, MSRB3, MTAP, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NARS2, NDP, NEU1, NF2, NKX3-2, NLRP3, NR2F1, OFD1, OPA1, ORC1, ORC4, ORC6, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOR, P2RX2, PAX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PEX7, PHEX, PHYH, PJVK, PLCB4, PMP22, PNPT1, POLD1, POLR1A, POLR1C, POLR1D, PORCN, POU3F4, POU4F3, PRPS1, PRRX1, PTPRQ, RDX, RIPOR2, ROR1, RPGR, RPS28, RPS6KA3, S1PR2, SALL1, SALL4, SCARB2, SDHD, SEMA3E, SERAC1, SERPIN, SERPINB6, SF3B4, SGPL1, SIX1, SIX5, SLC17A, SLC17A8, SLC19A2, SLC26A, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC4A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK, SLITRK6, SMAD4, SMPX, SMS, SNAI2, SOBP, SOX10, SOX2, SOX9, SPATA5, SPINK5, ST3GAL5, STRC, SYNE4, TBC1D2, TBC1D24, TBL1X, TBX1, TCF21, TCOF1, TECTA, TFAP2A, TFCP2, THRA, THRB, TIMM8A, TJP2, TMC1, TMC2, TMEM13, TMEM132E, TMIE, TMPRSS, TMPRSS3, TMPRSS5, TNC, TNFRSF11B, TPRN, TRIOBP, TRMU, TRPV4, TSPEAR, TWNK, TWSG1, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XPA, YAP1



A Genetyca-ICM by Atrys disponibiliza ainda abordagens mais alargadas para as diferentes especialidades que poderão ser úteis para doentes com quadros clínicos complexos: exoma clínico ou exoma em trio.


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