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.


  • Amiloidose hereditária (Painel NGS de 20 genes)
  • Ataxias hereditárias (Painel NGS de 341 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Atrofia muscular espinhal (Painel NGS de 43 genes)
  • Canalopatias neuronais (Painel NGS de 61 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Charcot-Marie-Tooth (Painel NGS de 100 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Charcot-Marie-Tooth e outras neuropatias hereditárias (Painel NGS de 171 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Coreia hereditária (Painel NGS 20 genes)
  • Défice intelectual (Painel NGS de 1249 genes)
  • Demência de Alzheimer (Painel NGS de 16 genes)
  • Demência frontotemporal (Painel NGS de 27 genes – inclui análise do C9orf72)
  • Demências hereditárias (Painel NGS de 51 genes – inclui análise do C9orf72)
  • Discinésias paroxísticas (Painel NGS de 9 genes)
  • Distonia mioclónica (Painel NGS de 3 genes)
  • Distonias (Painel NGS de 287 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Distrofia muscular das cinturas (Painel NGS de 48 genes)
  • Distrofias musculares (Painel NGS de 69 genes)
  • Doença de Parkinson e parkinsonismo (Painel NGS de 73 genes)
  • Doença de pequenos vasos (Painel NGS de 58 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Doença do movimento (Painel NGS de 716 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Doença neuromuscular (Painel NGS de 454 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Enxaqueca hemiplégica (Painel NGS de 48 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Epilepsia mioclónica familiar (Painel NGS de 125 genes)
  • Epilepsia (Painel NGS de 1087 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Esclerose lateral amiotrófica (Painel NGS de 107 genes – inclui análise do C9orf72)
  • Leucodistrofias e leucoencefalopatias (Painel NGS de 160 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Malformações cerebrais (Painel NGS de 132 genes)
  • Miopatias hereditárias (Painel NGS de 219 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Neurodegenerescência com acumulação cerebral de ferro (NBIA) (Painel NGS de 58 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Neuropatias hereditárias (Painel NGS de 171 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Paraparésias espásticas hereditárias (Painel NGS de 166 genes)
  • Síndrome miasténica congénita (Painel NGS de 70 genes – inclui análise dos 37 genes do DNA mitocondrial)
Amiloidose hereditária (Painel NGS de 20 genes)

APOA1, APOA2, APOC2, APP, B2M, CST3, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, TACSTD2, TGFBI, TNFRSF1A, TTR

Ataxias hereditárias (Painel NGS de 341 genes – inclui análise dos 37 genes do DNA mitocondrial)

AAAS, AARS2, ABCB7, ABHD12, ACO2, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALS2, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATAD3A, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A3, ATP2B3, ATP6V0A2, ATP8A2, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, BRAT1, BSCL2, BTD, C12ORF4, C19ORF12, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CHP1, CLCN2, CLN5, CLN6, CLPB, CLPP, COA7, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSF1R, CSPP1, CSTB, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS2, DDOST, DHPS, DLAT, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, EXOSC3, FA2H, FAT2, FBXL4, FDXR, FGF14, FLVCR1, FXN, GALC, GBA2, GBE1, GCLC, GDAP2, GFAP, GJC2, GOSR2, GRID2, GRM1, GSS, HARS2, HEPACAM, HIBCH, IFRD1, INPP5E, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LARS2, LMNB1, LRPPRC, LYRM7, LYST, MARS2, MECR, MKKS, MKS1, MLC1, MME, MPDU1, MPI, MRE11, MSTO1, 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, MTPAP, MTRFR, 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, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NHLRC1, NKX2-1, NKX6-2, NOL3, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NUBPL, NUS1, OFD1, OPA1, OPA3, OPHN1, PAX6, PCNA, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PGM1, PHYH, PIGS, PIK3R5, PLA2G6, PLD3, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, PRKCG, PRPS1, PRRT2, PTRH2, PUM1, RARS2, RFT1, RNF170, RNF216, RORA, RPGRIP1L, RRM2B, RUBCN, SACS, SCN8A, SCYL1, SERAC1, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A2, SLC52A3, SLC9A1, SLC9A6, SNX14, SPAST, SPG11, SPG7, SPR, SPTBN2, SRD5A3, SSR4, STT3A, STT3B, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRIM32, TRPC3, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTC8, TTPA, TUBB4A, TWNK, TYMP, UBA5, UBTF, UCHL1, VAMP1, VLDLR, VPS13D, VRK1, VWA3B, WASHC5, WDPCP, WDR73, WDR81, WFS1, WWOX, XPA, XRCC1, ZFYVE26, ZNF423, ZNF592

Atrofia muscular espinhal (Painel NGS de 43 genes)

AARS1, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, EXOSC9, FBXO38, GARS1, GLE1, HEXA, HEXB, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PIP5K1C, PLEKHG5, PRUNE1, RAX2, RBM7, REEP1, SCO2, SETX, SIGMAR1, SLC25A46, SLC5A7, TBCD, TBCE, TBK1, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1

Canalopatias neuronais (Painel NGS de 61 genes – inclui análise dos 37 genes do DNA mitocondrial)

ADCY5, ATAD1, ATP1A2, ATP1A3, ATP7B, CACNA1A, CACNB4, GLRA1, GLRB, KCNA1, KCNJ2, KCNMA1, KCNQ2, KCNQ3, PNKD, PRRT2, SCN1A, SCN8A, SCN9A, SLC1A3, SLC2A1, SLC6A5, SPR, VAMP2, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTM1, MTMR14, 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

Charcot-Marie-Tooth (Painel NGS de 100 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABHD12, AGK, BCOR, BEST1, BFSP1, BFSP2, CAV1, CHMP4B, CLPB, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, GALK1, GBA2, GCNT2, GFER, GJA3, GJA8, HSF4, JAM3, LEMD2, LIM2, LSS, MAF, MIP, MIR184, MSMO1, 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, NHS, OCRL, P3H2, PAX6, PITX2, PITX3, PXDN, RDH11, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TDRD7, UNC45B, VIM, VSX2, WFS1

Charcot-Marie-Tooth e outras neuropatias hereditárias (Painel NGS de 171 genes – inclui análise dos 37 genes do DNA mitocondrial)

AAAS, AARS1, ABCA1, ABHD12, AIFM1, ALS2, ANG, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, CHCHD10, CLP1, COX6A1, CTDP1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, EXOSC3, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, GALC, GAN, GARS1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS1, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS1, MED25, MFN2, MME, MORC2, MPV17, MPZ, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTMR2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTRFR, 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, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PLP1, PMP2, PMP22, PNKP, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTR, TUBB3, TWNK, TYMP, UBA1, VAPB, VCP, VRK1, WNK1, YARS1

Coreia hereditária (Painel NGS 20 genes)

ADCY5, ARHGEF2 , ATM , FRRS1L , FTL , GCDH, GM2A, GNAO1 , HPRT1, HSD17B10, IREB2, KCNA1 , NKX2-1, OPA3, PDE10A , PNKD, PRRT2, RNF216, SLC2A1, VPS13A

Défice intelectual (Painel NGS de 1249 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, BLTP1, BMP4, BOLA3, BPNT2, BRAF, BRAT1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C12orf57, C19ORF12, C2CD3, 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, CFAP418, 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, 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, EXOC6B, EXOSC3, EXT2, EXTL3, EYA1, EZH2, FAAH2, FAH, FAM111A, 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, FRMD5, FRMPD4, FTCD, FTL, FTO, FTSJ1, FUCA1, G6PC3, GAA, GABBR1 , GABRA1, GABRB3, GABRG2, GAD1, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA1, 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, HYCC1, 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, KIDINS220, KIF11, KIF1A, 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, MTRFR, 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, PHF21A, 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, PUS3, 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, SKIC3, 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, TAFAZZIN, TANGO2, TAT, 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, 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

Demência de Alzheimer (Painel NGS de 16 genes)

ABCA7, APOE, APP, CSF1R, GRN, HFE, MAPT, MPO, NOS3, PLAU, PSEN1, PSEN2, SNCA, SNCB, SORL1, VCP

Demência frontotemporal (Painel NGS de 27 genes – inclui análise do C9orf72)

APP, C9orf72, CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, MATR3, NOTCH3, OPTN, PRNP, PSEN1, SIGMAR1, SORL1, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBE3A, UBQLN2, VCP

Demências hereditárias (Painel NGS de 51 genes – inclui análise do C9orf72)

ALS2, ANG, APOE, APP, ATP13A2, ATP7B, ATXN2, C9orf72, CHCHD10, CHMP2B, CP, CSF1R, DCTN1, DNAJC5, DNMT1, EPM2A, ERBB4, FUS, GRN, HNRNPA1, ITM2B, MAPT, MATR3, NOTCH3, NPC1, OPTN, PDGFB, PDGFRB, PPT1, PRNP, PSEN1, PSEN2, SERPINI1, SETX, SIGMAR1, SLC20A2, SNCA, SNCB, SOD1, SORL1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, TYROBP, UBE3A, UBQLN2, VCP, XPR1

Discinésias paroxísticas (Painel NGS de 9 genes)

ADCY5, CLCN1, ECHS1, KCNMA1, PDE2A, PNKD, PRRT2, SCN8A, SLC2A1

Distonia mioclónica (Painel NGS de 3 genes)

KCNN2, KCTD17, SGCE

Distonias (Painel NGS de 287 genes – inclui análise dos 37 genes do DNA mitocondrial)

AARS1, AARS2, ACTB, ADAR, ADCY5, ADK, AFG3L2, ALS2, ANO3, AP1S2, APTX, ARFGEF2, ARSA, ARX, ATAD3A, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7A, ATP7B, AUH, BCAP31, BCS1L, BSCL2, BTD, BTK, C19orf12, CACNA1A, CACNA1B, CACNA1G, CHMP2B, CHRNA4, CIZ1, CLCN1, CLCN2, CLN3, COASY, COL4A1, COL6A3, COQ8A, COX10, COX15, COX20, CP, CSF1R, CSTB, CTNNB1, CTSF, CYP27A1, DCAF17, DCTN1, DDC, DEPDC5, DHFR, DLAT, DNAJC12, DNAJC6, DNM1L, DRD2, DRD3, DRD5, EARS2, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, ERCC6, FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FOXRED1, FTL, FUCA1, GALC, GAMT, GATM, GCDH, GCH1, GFAP, GLB1, GLRA1, GM2A, GNA14, GNAL, GNAO1, GNB1, GRIK2, HACE1, HEPACAM, HEXA, HPCA, HPRT1, HTR2C, HTRA2, IFIH1, KCNA1, KCNB1, KCND3, KCNMA1, KCNQ2, KCTD17, KIF1A, KIF1C, KMT2A, KMT2B, L2HGDH, LIAS, LIPT1, LRRK2, MARS2, MAT1A, MCOLN1, MECP2, MECR, MICU1, MIPEP, MLC1, MMADHC, MMUT, MOCS1, MPV17, MR1, MRE11, 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, MYO5A, MYOD1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NKX2-1, NKX6-2, NPC1, NPC2, NUP62, OPA3, OPTN, PANK2, PARK7, PCDH12, PDE10A, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PINK1, PLA2G6, PLEKHG2, PLP1, PNKD, PNKP, PNPT1, POLG, POLR3B, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, QKI, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN2A, SCN8A, SCP2, SDHA, SDHAF1, SERAC1, SETX, SGCE, SLC13A5, SLC16A2, SLC18A2, SLC19A3, SLC20A2, SLC25A1, SLC25A15, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A1, SLC6A3, SLC6A8, SMPD1, SOX2, SOX6, SPG11, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TACO1, TAF1, TBC1D24, TBCD, TBCE, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPI1, TPK1, TRAPPC11, TREM2, TREX1, TTC19, TUBB4A, UBA5, UBTF, UQCRQ, VAC14, VPS13A, VPS13C, VPS16, VPS37A, WDR45, WDR73, WDR81, XK, XPR1, YARS2, YY1

Distrofia muscular das cinturas (Painel NGS de 48 genes)

ANO5, BVES, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HNRNPDL, LAMA2, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP

Distrofias musculares (Painel NGS de 69 genes)

ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CAV3, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNAJB6, DNM2, DOLK, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GGPS1, GMPPB, GNE, GOSR2, HNRNPDL, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LIMS2, LMNA, MICU1, MYMK, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

Doença de Parkinson e parkinsonismo (Painel NGS de 73 genes)

ADORA1, ANO3, APP, ATP13A2, ATP1A3, ATP6AP2, C19orf12, CHCHD10, CHCHD2, CLN3, COASY, CSF1R, DCTN1, DNAJC12, DNAJC13, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, GNAL, GRN, HTRA2, KIF5A, LRRK2, LYST, MAPT, NR4A2, OPA3, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PINK1, PLA2G6, POLG, PRKAR1B, PRKN, PRKRA, PSEN1, PTRHD1, RAB39B, SGCE, SLC18A2 , SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SNCAIP, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TENM4, TH, THAP1, TOR1A, TUBB4A, TWNK, UCHL1, VCP, VPS13A, VPS13C, VPS35, WDR45, XPR1

Doença de pequenos vasos (Painel NGS de 58 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABCC6, ADA2, APP, ATP1A2, CACNA1A, COL3A1, COL4A1, COL4A2, COLGALT1, CST3, CTC1, CTSA, FOXC1, GLA, HTRA1, ITM2B, 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, NOTCH3, PITX2, SCN1A, STN1, TREX1

Doença do movimento (Painel NGS de 716 genes – inclui análise dos 37 genes do DNA mitocondrial)

ADAR, AAAS, AARS1, AARS2, AASS, ABCA1, ABCA7, ABCB7, ABCD1, ABCD4, ABHD12, ACAT1, ACER3, ACOX1, ACP2, ACP5, ACTB, ACVR1, ACY1, ADAMTS13, ADCY5, ADD3, ADGRG1, ADH1C, ADK, ADRA2B, AFG3L2, AHI1, ALAS2, ALDH18A1, ALDH5A1, ALDH6A1, ALG6, ALS2, AMACR, AMPD2, ANG, ANO10, ANO3, ANO5, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOB, APTX, ARFGEF2, ARG1, ARHGAP31, ARHGEF28, ARL13B, ARL6, ARL6IP1, ARSA, ARSI, ARV1, ARX, ASAH1, ASL, ASS1, ATAD3A, ATCAY, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATR, AUH, B4GALNT1, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11B, BCS1L, BEAN1, BICD2, BIN1, BRAT1, BSCL2, BTD, BTK, C12orf65, C19orf12, CA2, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1G, CACNB4, CAMTA1, CAPN1, CARS2, CASQ1, CAV3, CBS, CC2D2A, CCDC28B, CCDC78, CCDC88C, CCT5, CEP290, CEP41, CFL2, CHCHD10, CHMP2B, CHRNA4, CIT, CIZ1, CKAP2L, CLCN1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNTN1, COASY, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COMT, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX15, COX20, CP, CPLANE1, CPS1, CPT1C, CRAT, CRLF1, CRYAB, CSF1R, CSTB, CTC1, CTNNB1, CTSD, CTSF, CWF19L1, CYB5R3, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DBT, DCAF17, DCTN1, DDB2, DDC, DDHD1, DDHD2, DDX3X, DEPDC5, DES, DGAT2, DHFR, DLAT, DLD, DMXL2, DNA2, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK6, DPYS, DRD2, DRD3, DRD5, DYNC1H1, DYSF, EARS2, ECHS1, ECM1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, ENTPD1, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EXOSC3, FA2H, FAR1, FASTKD2, FBXL4, FBXO7, FGF14, FGFR1, FHL1, FITM2, FKBP14, FLNC, FLRT1, FLVCR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUS, FXN, GAD1, GALC, GAMT, GAN, GARS1, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GFAP, GIGYF2, GJA1, GJB1, GJC2, GLB1, GLRA1, GLUD2, GLYCTK, GM2A, GNA11, GNA14, GNAL, GNAO1, GNAS, GNB1, GNE, GOSR2, GPR88, GRID2, GRIK2, GRM1, GRN, GTF2E2, GTF2H5, HACD1, HACE1, HARS1, HEPACAM, HEXA, HEXB, HIBCH, HIKESHI, HIVEP2, HNRNPA1, HNRNPA2B1, HNRNPH2, HPCA, HPRT1, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTR2C, HTRA2, HTT, IBA57, IFIH1, IFNG, IGHMBP2, ISCU, ISG15, ITM2B, ITPR1, IVD, JAM3, JPH3, KANK1, KBTBD13, KCNA1, KCNA4, KCNB1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KCTD17, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KIF5C, KIF7, KLC4, KLHL40, KLHL41, KLHL9, KMT2A, KMT2B, KRIT1, KY, L1CAM, L2HGDH, LAMP2, LARS2, LDB3, LIAS, LIPT1, LIPT2, LMNB1, LMOD3, LRPPRC, LRRK2, LYST, MAG, MAPT, MARS1, MARS2, MAT1A, MATR3, MCCC2, MCEE, MCOLN1, MDH2, MECP2, MECR, MEGF10, MFF, MFSD8, MGP, MICU1, MIPEP, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MORC2, MPV17, MR1, MRE11, MRPS34, MSTN, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTHFR, MTM1, MTMR14, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, 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, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYF6, MYH14, MYH2, MYH7, MYO5A, MYOD1, MYOT, NADK2, NALCN, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, NEDD4, NEFH, NEU1, NHLRC1, NHP2, NIPA1, NKX2-1, NKX6-2, NLRP3, NME1, NOL3, NOP56, NPC1, NPC2, NPHP1, NT5C2, NUP62, OCLN, OFD1, OPA1, OPA3, OPTN, OTC, PABPN1, PAH, PANK2, PARK7, PAX6, PCCA, PCCB, PCDH12, PDE10A, PDE2A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX2, PEX6, PEX7, PFN1, PGAP1, PHYH, PIK3R5, PINK1, PLA2G6, PLEKHG2, PLEKHG5, PLP1, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, PODXL, POLG, POLR1C, POLR3A, POLR3B, PPP1R15B, PPP2R2B, PPT1, PQBP1, PRKCG, PRKN, PRKRA, PRNP, PRPH, PRRT2, PSEN1, PSMB8, PTEN, PTS, QDPR, QKI, RAB18, RAB29, RAB39B, RAB3GAP1, RAB3GAP2, RBBP8, REEP1, REEP2, RELN, RETREG1, RLIM, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF216, RTN2, RUBCN, SACS, SAMHD1, SCN1A, SCN2A, SCN8A, SCO2, SCP2, SDHA, SDHAF1, SDHD, SELENOI, SERAC1, SETX, SFXN4, SGCE, SIGMAR1, SIL1, SLC13A5, SLC16A2, SLC18A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A15, SLC25A26, SLC2A1, SLC30A10, SLC30A9, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC9A1, SMPD1, SNAP25, SNCA, SNX14, SOD1, SOX2, SOX6, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, SQSTM1, STAMBP, STN1, STUB1, STXBP1, SUCLA2, SUOX, SURF1, SYNE1, SYNJ1, SYT1, SYT14, TACO1, TAF1, TAF2, TANGO2, TBC1D24, TBCD, TBCE, TECPR2, TELO2, TENM4, TFG, TGM6, TH, THAP1, THOC2, TIMM8A, TIMMDC1, TINF2, TMEM126B, TMEM230, TOR1A, TOR1AIP1, TPI1, TPK1, TPP1, TRAPPC11, TREM2, TREX1, TRIM32, TSEN2, TSEN54, TSFM, TTBK2, TTC19, TTPA, TTR, TUBB4A, TWNK, TXN2, TYROBP, UBA5, UBQLN2, UBTF, UCHL1, UNC13A, UPB1, UQCRQ, UROC1, USP18, USP8, VAC14, VAMP1, VCP, VPS13A, VPS13C, VPS13D, VPS16, VPS35, VPS37A, VWA3B, WARS2, WASHC5, WDR45, WDR73, WDR81, WWOX, XK, XPNPEP3, XPR1, XRCC4, YARS2, YY1, ZBTB20, ZC4H2, ZFYVE26, ZFYVE27, ZNF592

Doença neuromuscular (Painel NGS de 454 genes – inclui análise dos 37 genes do DNA mitocondrial)

AAAS, AARS1, ABCA1, ABHD12, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ADAMTS10, ADCY6, ADGRG6, ADSS1, AGL, AGRN, AIFM1, ALDOA, ALG14, ALG2, ALS2, AMPD1, ANG, ANO5, ANTXR2, ANXA11, ARHGEF10, ASAH1, ASCC1, ASXL1, ATL1, ATL3, ATP13A2, ATP1A1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, C12orf65, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCNF, CCT5, CFL2, CHAT, CHCHD10, CHCHD2, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CLTCL1, CNBP, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CTDP1, DAG1, DAO, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, ELP3, EMD, ENO3, EPG5, ERBB3, ERBB4, ERCC6, ERCC8, ERLIN1, ETFA, ETFB, ETFDH, EWSR1, EXOSC3, EXOSC8, EXOSC9, FAM126A, FAM20C, FBLN5, FBN2, FBXO38, FGD4, FGFR2, FGFR3, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR1, FUS, GAA, GALC, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GLDN, GLE1, GLT8D1, GMPPB, GNB4, GNE, GRN, GSN, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, hnRNPA2B1, HNRNPDL, HOXD10, HSBP1, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, INPP5K, IRF6, ISCU, ITGA7, JPH1, KARS1, KAT6B, KBTBD13, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MAP3K20, MAPT, MARS1, MATR3, MB, MED25, MEGF10, MFN2, MICU1, MME, MORC2, MPV17, MPZ, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTM1, MTMR14, MTMR2, 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, MUSK, MYBPC1, MYBPC3, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYO9A, MYOT, MYPN, NAGLU, NALCN, NDRG1, NEB, NEFH, NEFL, NEK1, NGF, NTRK1, OPA1, OPTN, ORAI1, PAX7, PDK3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD1, PLOD2, PLP1, PMP2, PMP22, PNKP, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRDM12, PREPL, PRG4, PRKAG2, PRPH, PRPS1, PRUNE1, PRX, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, RBM7, REEP1, RETREG1, RIPK4, RNF170, RRM2B, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SCP2, SELENON, SETX, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A6, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMAD3, SMAD4, SNAP25, SOD1, SOX10, SPART, SPAST, SPEG, SPG11, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, SYT2, TAF15, TARDBP, TAZ, TBCD, TBCE, TBK1, TCAP, TECPR2, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOR1AIP1, TPM2, TPM3, TRAPPC11, TREM2, TRIM2, TRIM32, TRIM63, TRIP4, TRPV4, TSEN54, TSFM, TTN, TTR, TUBA4A, TUBB3, TWNK, TYMP, UBA1, UBQLN2, UNC13A, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WARS1, WNK1, YARS1, ZC4H2, ZMPSTE24

Enxaqueca hemiplégica (Painel NGS de 48 genes – inclui análise dos 37 genes do DNA mitocondrial)

ATP1A2, ATP1A3, CACNA1A, COL4A1, 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, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, TREX1

Epilepsia mioclónica familiar (Painel NGS de 125 genes)

AARS1, ADGRV1, ADRA2B, ADSL, AFG3L2, ALDH5A1, ALDH7A1, AMACR, AMPD2, AMT, AP3D1, ARX, ASAH1, ASPA, ATM, ATP1A3, BOLA3, BRAT1, BSCL2, BUB1B, CACNA1D, CACNA2D2, CACNB4, CARS2, CDKL5, CERS1, CHD2, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTN2, COL6A2, CSTB, CTSD, CTSF, DDC, DGUOK, DNAJC5, DPYS, DYNC1H1, EFHC1, ELOVL4, EPM2A, FARS2, FGF12, FOLR1, FRRS1L, GABRA1, GABRD, GCSH, GLB1, GLDC, GLRA1, GLYCTK, GOSR2, GRIA3, GRN, GUF1, HACE1, HIBCH, IER3IP1, IRF2BPL, KCNA2, KCNC1, KCTD17, KCTD7, LIAS, LMNB2, MBOAT7, MECP2, MFSD8, NAGA, NDE1, NDUFA1, NEU1, NEXMIF, NHLRC1, NME1, NOL3, PC, PCDH19, PGAP3, PIGA, PLPBP, PNPO, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRMT7, PSAP, PSEN1, PURA, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCARB2, SCN1A, SEPSECS, SERPINI1, SETD2, SGCE, SIK1, SLC12A5, SLC1A2, SLC25A15, SLC25A22, SLC2A1, SLC6A1, ST3GAL5, STAMBP, STX1B, STXBP1, TBC1D24, TIMMDC1, TMEM126B, TPP1, TREM2, TYROBP, ZNHIT3

Epilepsia (Painel NGS de 1087 genes – inclui análise dos 37 genes do DNA mitocondrial)

AARS1, AASS, ABAT, ABCA2, ABCC8, ABCD1, ABCD4, ACADM, ACADS, ACADSB, ACO2, ACOX1, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADA2, ADAM22, ADAMTSL2, ADAR, ADD3, ADGRG1, ADGRV1, ADK, ADNP, ADPRS, ADRA2B, ADSL, AFG3L2, AGA, AHI1, AIFM1, AIMP1, AKT1, AKT2, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK3, ANKLE2, ANKRD11, ANTXR1, AP1S2, AP2M1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APOL2, APOL4, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGDIA, ARHGEF15, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATIC, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP5F1A, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATPAF2, ATR, ATRX, AUH, AUTS2, AVPR2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11B, BCS1L, BOLA3, BRAF, BRAT1, BRD2, BSCL2, BTD, BUB1B, C12orf57, C2CD3, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CARS2, CASK, CASQ2, CASR, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88A, CCDC88C, CCL2, CCM2, CD96, CDC42, CDK5, CDK9, CDKL5, CENPE, CENPJ, CEP164, CEP290, CERS1, CERT1, CFH, CFHR1, CFHR3, CHD1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CILK1, CIT, CKAP2L, CLCN2, CLCN4, CLCN6, CLCNKA, CLCNKB, CLDN16, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COA7, COA8, COG2, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A2, COQ2, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CPA6, CPS1, CPT1A, CPT2, CRB2, CREBBP, CRH, CRIPT, CRLF1, CSF1R, CSNK1E, CSNK2A1, CSNK2B, CSTB, CTC1, CTLA4, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CYFIP2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCHS1, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DIP2B, DLD, DNAJC5, DNASE1, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, ECE1, ECHS1, ECM1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELOVL4, EMC1, EML1, EMX2, ENG, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXT2, FA2H, FADD, FAM111A, FAM126A, FAR1, FARS2, FASN, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FCGR2A, FCGR2B, FDFT1, FDX2, FGD1, FGF12, FGF3, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FMN2, FOLR1, FOXG1, FOXRED1, FRMPD4, FRRS1L, FTL, FTO, FUCA1, FUT8, FXYD2, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA, GCDH, GCH1, GCK, GCM2, GCSH, GFAP, GFM1, GFM2, GJA1, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNAS, GNB1, GNE, GNS, GOLGA2, GOSR2, GPAA1, GPC3, GPHN, GPX4, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP3, GUCY1A1, GUF1, GYS2, H19, HACE1, HADH, HAX1, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC4, HECW2, HEPACAM, HERC1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMBS, HMGCL, HNRNPH2, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYLS1, IBA57, IDH2, IDH3A, IDS, IER3IP1, IFIH1, IFNG, IKBKG, INSR, IQSEC2, IRF2BPL, IRF3, ISG15, ITPA, IVD, JAK2, JAM3, KANSL1, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KDM6A, KIF11, KIF14, KIF1A, KIF2A, KIF5A, KIF5C, KIF7, KIFBP, KLHL15, KMT2A, KMT2C, KMT2D, KMT2E, KPNA7, KRAS, KRIT1, KRT8, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LARS1, LARS2, LAS1L, LBR, LGI1, LIAS, LIPT2, LMAN2L, LMNB1, LMNB2, LONP1, LRPPRC, LYRM7, LYST, MACF1, MAF, MAGEL2, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAPRE2, MARS2, MBD5, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, ME2, MECP2, MED12, MED17, MEF2C, MFF, MFSD2A, MFSD8, MGAT2, MGP, MIPEP, MLC1, MLH1, MLYCD, MMAA, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MPDZ, MRPL44, MRPS22, MSH2, MSH6, MSX2, 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, MTOR, 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, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH3, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NAXE, NBAS, NBEA, NDE1, NDN, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NFU1, NGLY1, NHLRC1, NIN, NIPBL, NKX6-2, NLGN4X, NOL3, NONO, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NT5C2, NTNG1, NTRK2, NUBPL, NUS1, OCLN, OCRL, OFD1, OMG, OPHN1, OSGEP, OTC, OTUD6B, OTX2, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PARS2, PAX2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH19, PCLO, PCNT, PDCD10, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP3, PGBD3, PGK1, PHACTR1, PHF21A, PHF6, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3AP1, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLEKHG2, PLK4, PLP1, PLPBP, PMM2, PMS2, PNKD, PNKP, PNPLA8, PNPO, PNPT1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPA2, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKDC, PRMT7, PROC, PRODH, PROK2, PROKR2, PROP1, PRPS1, PRRT2, PRRX1, PSAP, PSAT1, PSEN1, PSPH, PTCH1, PTCH2, PTEN, PTF1A, PTH, PTPN11, PTPN22, PTPN23, PTS, PUM1, PURA, PUS3, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAC1, RAI1, RALA, RANBP2, RARS1, RARS2, RBFOX1, RBFOX3, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF13, RNF216, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMD9, SAMHD1, SASS6, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHD, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SGCE, SGPL1, SGSH, SHANK3, SHH, SHOC2, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A42, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, SLC46A1, SLC4A1, SLC4A10, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMAD4, SMARCA2, SMARCB1, SMARCC2, SMC1A, SMC3, SMG9, SMS, SNAP25, SNAP29, SNIP1, SNORD118, SNRPN, SNX14, SNX27, SON, SOX10, SOX2, SPATA5, SPR, SPRED1, SPTAN1, SPTBN4, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STN1, STRADA, STX11, STX1B, STXBP1, STXBP2, SUCLA2, SUFU, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TAF1, TANGO2, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TCIRG1, TDP2, TECPR2, TGDS, TH, THOC2, TIMMDC1, TK2, TMEM126B, TMEM67, TMEM70, TMTC3, TNK2, TP53, TP53RK, TPK1, TPP1, TRAK1, TRAPPC11, TRAPPC6B, TREM2, TREX1, TRIM8, TRIO, TRPM6, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TTR, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TWNK, TXN2, TYROBP, UBA5, UBB, UBE2A, UBE3A, UBTF, UFM1, UNC80, UPB1, USP18, VAMP2, VARS1, VDR, VPS11, VPS13A, VPS13B, VPS53, WAC, WARS2, WASF1, WDR26, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, XK, XPA, XPNPEP3, XPR1, YWHAG, YY1, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZNHIT3, ZSWIM6

Esclerose lateral amiotrófica (Painel NGS de 107 genes – inclui análise do C9orf72)

ABCD1, ABHD12, ALS2, ANG, ANXA11, ARHGEF28, ATL1, ATP13A2, BSCL2, C9orf72, CCNF, CFAP410, CHCHD10, CHCHD2, CHMP2B, CRYM, DAO, DCTN1, ERBB4, ERLIN1, FIG4, FUS, GBE1, GLE1, GRN, HEXA, HNRNPA1, hnRNPA2B1, HSPD1, KIAA0196, KIF5A, KIF5C, LUM, MAPT, MATR3, MOBP, 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, NEFH, NEK1, OPTN, PFN1, PLEKHG5, PRF1, PRPH, PSEN1, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPART, SPAST, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1, TFG, TIA1, TREM2, TRPM7, TRPV4, TUBA4A, UBQLN2, UNC13A, VAPB, VCP, VEGFA, VRK1

Leucodistrofias e leucoencefalopatias (Painel NGS de 160 genes – inclui análise dos 37 genes do DNA mitocondrial)

AARS2, ABCD1, ACOX1, ADAR, ADGRG1, ADSL, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, COL4A1, COL4A2, COLGALT1, COQ2, COX10, COX15, CSF1R, CTC1, CTSA, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DDHD2, DEGS1, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FOLR1, FOXC1, FUCA1, GALC, GAN, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, L2HGDH, LMNB1, LYRM7, MCOLN1, MLC1, 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, NAXD, NAXE, NDUFA1, NDUFS1, NDUFS2, NDUFS4, NDUFS8, NOTCH3, NUBPL, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCP2, SDHAF1, SLC16A2, SLC17A5, SOX10, STN1, SUCLA2, SUMF1, SURF1, TBCK, TREM2, TREX1, TUBB4A, TWNK, TYMP, TYROBP, VPS11

Malformações cerebrais (Painel NGS de 132 genes)

ACTB, ACTG1, ADGRG1, AKT1, AKT3, AMPD2, ARFGEF2, ARID1A, ARID2, ARX, ASPM, ATP6V0A2, B3GALNT2, CASK, CCND2, CDC42, CDK5, CDK5RAP2, CDKL5, CDON, CENPE, CENPJ, CEP152, CHMP1A, CHN1, CIT, CLP1, COL4A1, COL4A2, CRPPA, CTNNA2, CUL4B, DCHS1, DCX, DEPDC5, DISP1, DLL1, DYNC1H1, DYRK1A, ECEL1, EXOSC3, EZH2, FAT4, FGF8, FKRP, FKTN, FLNA, FOXH1, GLDC, GLI2, GMPPB, GPSM2, HDAC8, HOXA1, HOXB1, IFIH1, KATNB1, KIF11, KIF21A, KIF2A, KIF5C, KIF7, KIFBP, LAMB1, LAMC3, LARGE1, LGI1, MACF1, MCPH1, MECP2, MTOR, MYMK, NDE1, NEDD4L, NODAL, NSDHL, OCLN, OFD1, OPHN1, PAFAH1B1, PHF6, PHOX2A, PIK3CA, PIK3R2, PNKP, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RTTN, RXYLT1, SALL4, SEPSECS, SHH, SIX3, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SRD5A3, SRPX2, STAMBP, STIL, TBC1D20, TBC1D23, TDGF1, TGIF1, TMTC3, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VRK1, WDR62, ZEB2, ZIC2

Miopatias hereditárias (Painel NGS de 219 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABHD5, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ADSS1, AGL, AGRN, ALG14, ALG2, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM3, DYSF, EMD, ENO3, EPG5, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFER, GFPT1, GMPPB, GNE, GYG1, HACD1, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB8, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MAP3K20, MATR3, MB, MEGF10, MICU1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTM1, MTMR14, 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, MUSK, MYBPC1, MYBPC3, MYH14, MYH2, MYH7, MYL1, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PAX7, PGAM2, PGK1, PHKA1, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC5A7, SNAP25, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, SYNE2, SYT2, TAFAZZIN, TCAP, TIA1, TK2, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM63, TRIP4, TTN, TYMP, VMA21, YARS2

Neurodegenerescência com acumulação cerebral de ferro (NBIA) (Painel NGS de 58 genes – inclui análise dos 37 genes do DNA mitocondrial)

AP4M1, ATP13A2, C19ORF12, COASY, CP, CRAT, DCAF17, FA2H, FTL, FUCA1, GJA1, GTPBP2, KIF1A, 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, PANK2, PLA2G6, REPS1, SCP2, SLC25A42, SQSTM1, TRIM32, WDR45

Neuropatias hereditárias (Painel NGS de 171 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

Paraparésias espásticas hereditárias (Painel NGS de 166 genes)

ABCB7, ABCD1, ACO2, ACOX1, ADAR, ADD3, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, ATRX, AUH, B4GALNT1, BICD2, BSCL2, BTD, C19orf12, CACNA1G, CAPN1, CCT5, CHMP2B, CHP1, CLCN2, CLN8, COASY, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, DYNC1H1, EIF2B5, ELOVL4, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FLRT1, FUS, FXN, GAD1, GALC, GAN, GBA2, GBE1, GCH1, GFAP, GJA1, GJC2, GPT2, GRID2, HACE1, HSPD1, IBA57, IFIH1, IRF2BPL, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, L1CAM, L2HGDH, LYST, MAG, MARS1, MARS2, MECP2, MTHFR, MTPAP, MTRFR, NARS2, NFU1, NIPA1, NKX6-2, NT5C2, OPA1, OPA3, OPTN, PAH, PANK2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PQBP1, PSEN1, RAB3GAP2, RARS1, REEP1, REEP2, RETREG1, RNASEH2B, RTN2, SACS, SAMHD1, SERAC1, SETX, SIGMAR1, SLC16A2, SLC1A4, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, STUB1, SYNE1, TARDBP, TECPR2, TFG, TGM6, TH, TREX1, TTR, TUBB3, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC80, USP8, VAMP1, VAPB, VCP, VPS37A, WASHC5, WDR45, WDR48, ZFR, ZFYVE26, ZFYVE27

Síndrome miasténica congénita (Painel NGS de 70 genes – inclui análise dos 37 genes do DNA mitocondrial)

AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, FLAD1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, 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, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, STIM1, SYT2, UNC13A, VAMP1



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.


Últimas Notícias

Copyright @ 2017 GENETYCA-ICM Portugal. Todos os direitos reservados.