Transtornos neurológicos, transtornos do neurodesenvolvimento e síndromes polimalformativas
Tanto os transtornos do neurodesenvolvimento (TND) quanto as síndromes polimalformativas se caracterizam por apresentarem uma clínica complexa, com manifestações parciais e/ou sobrepostas
A dificuldade do diagnóstico clínico somada a elevada heterogeneidade genética, torna necessário, para maioria dos pacientes, estudar estas patologias através da combinação sequencial de diferentes testes genéticos.
ExoNIM® Dirigido
Sequenciamento dos éxons e regiões de splicing dos 19.000 genes do paciente com análise direcionada ao estudo de genes cuja associação causal com o quadro clínico tenha sido previamente estabelecida.
A vantagem do ExoNIM é a oportunidade de ampliação das análises diante do surgimento de novos sintomas, redefinição de fenótipo ou publicação de novos genes associados a patologia em estudo.
NIMSeq®
NIMSeq®, sequenciamento de múltiplos genes em um único painel, para a detecção de mutações de ponto associadas a patologias definidas.
Quando está indicado?
A NIMGenetics recomenda a realização de NIMSeq para o estudo de síndromes com um quadro clínico ou fenótipo característico e com um número limitado de genes associados.
MPLA
O MLPA (Multiplex ligation-dependent probe amplification) é uma técnica utilizada para a detecção de duplicações e deleções em regiões genômicas específicas, com uma resolução ao nível dos exons nos genes analisados.
O MLPA específico para metilação (MS-MLPA, metilation specific MLPA) permite, junto com a detecção de duplicações e deleções, a identificação de modificações no padrão de metilação.
DNA Mitocondrial
As doenças mitocondriais são um grupo de transtornos secundários a falhas no metabolismo energético mitocondrial, fonte da energia celular.
A NIMGenetics oferece diversos exames de sequenciamento e MLPA do ADN mitocondrial para o diagnóstico de doenças mitocondriais.
Adicionalmente, para uma abordagem global do estudo do DNA mitocondrial é possível complementar a análise através do sequenciamento massivo dos genes nucleares, que codificam proteínas relacionadas com o metabolismo mitocondrial. Para isso, oferecemos o diagnóstico com o ExoNIM® com análise direcionada a alterações mitocondriais secundárias a mutações do DNA nuclear.
Acceso profesionales
Diseños ExoNIM
Epilepsia
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN5007 | Epilepsia asociada a alteraciones neurometabólicas | ABAT, ADSL, AGA, ALDH5A1, ALDH7A1,
ALG13, AMT, ARG1, BCKDK, BTD, DPYD, FH, FOLR1, GAMT, GCH1, GCSH, GLDC, GNE, L2HGDH, LIAS, MOCS1, MTHFR, PEX1, PGK1, PHF6, PNPO, PRODH, PTS, QDPR, SLC19A3, SLC25A15, SLC2A1, SLC46A1, SLC6A8, ST3GAL5, SUOX |
| EXN5002 | Encefalopatía epiléptica infantil de inicio precoz y/o espasmos infantiles |
AARS, ALDH7A1, ALG13, ARHGEF15, ARHGEF9,
ARX, ATP6AP2, CACNA1A, CACNA2D2, CASK, CASR, CDKL5, CHD2, DNM1, DOCK7, EEF1A2, GABRA1, GABRB1, GABRB3, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPH1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNQ2, KCNT1, MAGI2, MEF2C, NECAP1, PCDH19, PIGA, PIGV, PLCB1, PNKP, PNPO, POLG, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TSC1, TSC2, WWOX, SLC6A1, SPTAN1, ST3GAL3, TBC1D24, TSC2, WWOX |
| EXN5011 | Convulsiones Neonato-Infantil Benignas Familiares |
KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A |
| EXN5003 | Epilepsia nocturna del lobulo frontal | CHRNA2, CHRNA4, CHRNB2, CRH, KCNT1 |
| EXN5006 | Epilepsia Mioclónica Juvenil | ASAH1, ATP13A2, CERS1, CLN3, CLN5, CLN6,
CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GBA, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, TBC1D24, TPP1 |
| EXN5005 | Epilepsia Mioclónica Progresiva | CACNB4, CLCN2, EFHC1, GABRA1, GABRD |
| EXN5008 | Epilepsia generalizada con convulsiones febriles plus |
ADGRV1, CHD2, CPA6, GABRA1, GABRB3, GABRD,
GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, STX1B, STXBP1 |
| EXN5009 | Epilepsia (todos los genes de ExoNIM Plus) | ABAT, ADSL, ALDH7A1, ALG13, ARHGEF15,
ARHGEF9, ARX, ASPM, ATP1A3, ATP1A2, ATP6AP2, BCKDK, BRAT1, CACNA1A, CACNB4, CASK, CASR, CBL, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CSNK1G1, CSTB, CTSD, DCX, DEPDC5, DNAJC5, DNM1, EEF1A2, EFHC1, EPM2A, FASN, FOLR1, FOXG1, GABBR2, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GOSR2, GPR56, GPR98, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC4, HNRNPU, IQSEC2, KCNA1, KCNA2, KCND2, KCNH5, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MAPK10, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, MTOR, NDE1, NDUFA1, NEDD4L, NHLRC1, NRXN1, OPHN1, OTC, PAFAH1B1, PCDH19, PDHA1, PDHB, PHF6, PIGQ, PLCB1, PNKP, PNPO, POLG, POLG2, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSAP, QARS, RBFOX1, RBFOX3, RELN, RYR3, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC19A3, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STXBP1, SURF1, SYN1, SYNGAP1, TBC1D24, TCF4, TLR4, TPP1, TSC1, TSC2, TSEN54, UBE3A, WDR62, ZEB2 |
| EXN5010 | Epilepsia Focal | CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, GRIN2A,
KCNT1, LGI1, PRRT2, SCN1A, SCN1B |
| EXN5001 | ExoNIM Plus epilepsia | AARS,ABAT,ADGRG1,ADGRV1,ADSL,AGA,ALDH5A1,
ALDH7A1,ALG13,AMT,ARFGEF2,ARG1,ARHGAP31, ARHGEF15,ARHGEF9,ARX,ASAH1,ASPM,ATP13A2, ATP1A2,ATP1A3,ATP6AP2,ATRX,BCKDK,BRAT1,BTD, CACNA1A,CACNA2D2,CACNB4,CASK,CASR,CBL,CDKL5, CENPJ,CERS1,CHD2,CHRNA2,CHRNA4,CHRNB2,CLCN2, CLCN4,CLN3,CLN5,CLN6,CLN8,CNKSR2,CNTNAP2, COL4A1,COL4A2,COX10,CPA6,CRH,CSNK1G1,CSTB,CTSD, CTSF,DCX,DEPDC5,DNAJC5,DNM1,DOCK6,DOCK7, DPYD,DYRK1A,EEF1A2,EFHC1,EHMT1,EMX2,EOGT, EPM2A,FASN,FH,FLNA,FOLR1,FOXG1,FOXRED1, GABBR2,GABRA1,GABRB1,GABRB2,GABRB3,GABRD, GABRG2,GALC,GAMT,GATM,GBA,GCH1,GCSH, GLDC,GNAO1,GNE,GOSR2,GRIN1,GRIN2A,GRIN2B, GRN,HCN1,HDAC4,HNRNPH1,HNRNPU,IQSEC2, KANSL1,KCNA1,KCNA2,KCNB1,KCNC1,KCND2, KCNH5,KCNJ10,KCNJ11,KCNMA1,KCNQ2,KCNQ3, KCNT1,KCTD7,L2HGDH,LGI1,LIAS,LMNB2,MAGI2, MAPK10,MBD5,MCPH1,MECP2,MEF2C,MFSD8, MMACHC,MOCS1,MTHFR,MTOR,NDE1,NDUFA1, NDUFA2,NDUFAF3,NDUFAF5,NDUFAF6,NDUFS8, NECAP1,NEDD4L,NEU1,NHLRC1,NOTCH1,NRXN1, NUBPL,OPHN1,OTC,PAFAH1B1,PCDH19,PDHA1,PDHB, PEX1,PGK1,PHF6,PIGA,PIGQ,PIGV,PLCB1,PNKP,PNPO, POLG,POLG2,PPT1,PRDM8,PRICKLE1,PRICKLE2, PRODH,PRRT2,PSAP,PTS,QARS,QDPR,RBFOX1, RBFOX3,RBPJ,RELN,RYR3,SCARB2,SCN1A,SCN1B, SCN2A,SCN3A,SCN8A,SCN9A,SIK1,SLC12A5,SLC13A5, SLC19A3,SLC25A12,SLC25A15,SLC25A19,SLC25A22, SLC2A1,SLC35A2,SLC46A1,SLC6A8,SLC9A6,SNIP1, SPATA5,SPTAN1,SRPX2,ST3GAL3,ST3GAL5,STIL, STX1B,STXBP1,SUOX,SURF1,SYN1,SYNGAP1,SZT2, TBC1D24,TCF4,TPP1,TSC1,TSC2,TSEN54,TUBA1A,UBE3A, WDR62,WWOX,YWHAG,ZEB2 |
Diseños ExoNIM
Pediatría
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1125 | Alteraciones en el Metabolismo
del Folato y Homocisteína |
ADK,AHCY,ALDH6A1,CBS,CD320,CTH,FOLH1,GNMT,
LMBRD1,MAT1A,MCEE,MMAA,MMAB,MMACHC, MMACHC,MMADHC,MTHFR,MTR,MTRR,MUT,TCN2 |
| EXN1129 | Trastornos congénitos
de la glicosilación |
ALG1,ALG11,ALG12,ALG13,ALG2,ALG3,ALG6,ALG8,ALG9,
ATP6V0A2,B3GALTL,B4GALT1,CHST14,COG1,COG1,COG4, COG5,COG6,COG7,COG8,DDOST,DOLK,DPAGT1,DPM1, DPM2,DPM3,GNE,MGAT2,MOGS,MPDU1,MPI,NGLY1,PGM1, PGM3,PIGL,PIGN,PIGO,PIGT,PIGW,PMM2,RFT1,RFT1, SLC35A1,SLC35A2,SLC35C1,SRD5A3,STT3A,STT3B,TMEM165,TUSC3 |
| EXN1134 | Deficiencia de sulfito oxidasa,
molibdeno y xantina |
GPHN,MOCOS,MOCS1,MOCS2,SUOX,XDH |
| EXN1136 | Hiperglicemia no cetósica –
encefalopatía por glicina |
GCSH,GLDC,AMT,DLD,LIAS,NFU1,SLC6A9 |
| EXN1066 | Distroglicanopatías | B3GALNT2,B3GNT2,DAG1,DPM1,DPM2,DPM3,
FKRP,FKTN,GMPPB,ISPD,LARGE,POMGNT1, POMGNT2,POMK,POMK,POMT1,POMT2,TMEM5 |
| EXN1071 | Errores del metabolismo con
hiperamonemia |
ARG1,ASL,ASS1,CA5A,CPS1,GLUD1,GLUL,HLCS,
HMGCL,MCCC1,MCCC2,MMAA,MMAB,NAGS, NAGS,OTC,SLC22A5,SLC25A13 |
| EXN1007 | Déficit Intelectual | ADAT3,ADNP,ANK3,ANKRD11,AP4B1,APC2,
ARID1B,ASXL3,ATP8A2,AUTS2,CA8,CACNA1A, CACNG2,CAMTA1,CAMTA1,CC2D1A,CDH15, CHAMP1,CNNM2,COL4A3BP,CRADD,CRBN, CTCF,CTNNB1,DEAF1,DIP2B,DOCK8,DPP6,DYNC1H1, DYRK1A,EDC3,EEF1A2,ELOVL4,EPB41L1,FBXO31, FGFR2,FKRP,FKTN,FMN2,FOXG1,FOXP1,FOXP1,FTO, GATAD2B,GMPPA,GMPPB,GNB1,GPT2,GRIK2,GRIN1, GRIN2A,GRIN2BHACE1,HCN1,HEPACAM,HERC1, HERC2,HIVEP2,HNMT,HNRNPU,HOXA1,IGF1,INPP5E, KAT6A,KCNJ10,KCNK9,KDM1A,KIAA1033,KIF11,KIF1A, KIRREL3,KPTN,LARGE,LINS,LMAN2L,MAN1B1,MBD5, MBOAT7,MED13L,MED23,MEF2C,METTL23,MYT1L, NALCN,NDST1,NRXN1,NSUN2,PACS1,PGAP1,PGAP2, PGAP3,PIGG,PIGO,PIGV,PIGW,PIGY,PNKP,POGZ, POMGNT1,POMT1,POMT2,PPP2R1A,PPP2R5D,PPT1, PRSS12,PURA,PUS3,RAD21,RTN4IP1,SATB2,SETBP1, SETD5,SLC35A3,SLC6A17,SMARCA2,SMARCA4,SMC3, SMS,SNIP1,SOBP,SOX11,SPATA5,ST3GAL3,SYNGAP1, TAF2,TBCE,TBL1XR1,TECR,TMCO1,TNIK,TRAPPC9, TRIO,TTI2,TUSC3,VLDLR,WDR81,YAP1,ZBTB16, ZBTB18,ZC3H14,ZMYND11 |
| EXN1074 | Déficit Intelectual ligado
al cromosoma X |
ABCD1,ACSL4,AFF2,AGTR2,AIFM1,ALG13,AP1S2,
ARHGEF6,ARHGEF9,ARX,ATP6AP2,ATP7A,ATRX, BCOR,BCOR,BRWD3,CASK,CCDC22,CDK16,CDKL5, CLCN4,CLIC2,CNKSR2,CUL4B,DCX,DDX3X,DKC1, DLG3,DMD,EBP,EIF2S3,ELK1,FAAH2,FGD1,FLNA, FMR1,FRMPD4,FTSJ1,GDI1,GK,GPC3,GPC3,GRIA3, GSPT2,HCCS,HCFC1,HDAC8,HNRNPH2,HPRT1, HSD17B10,HUWE1,IDSIGBP1,IL1RAPL1,IQSEC2, KDM5C,KIAA2022,KIF4A,KLF8,KLHL15,L1CAM, LAMP2,LAS1L,MAGT1,MAOA,MBTPS2,MECP2, MED12,MID1,MID2,NAA10,NDP,NDUFA1,NHS, NLGN3,NLGN4X,NONO,NSDHL,NXF5,OCRL, OFD1,OGT,OPHN1,OTC,PAK3,PCDH19,PDHA1, PGK1,PHF6,PHF8,PLP1,PORCN,PQBP1,PRPS1, PTCHD1,RAB39B,RAB40AL,RBM10,RBMX, RLIM,RPL10,RPS6KA3,SHROOM4,SLC16A2,SLC35A2, SLC6A8,SLC9A6,SMC1A,SMS,SOX3,SRPX2,SYN1,SYP, TAF1,THOC2,TIMM8A,TSPAN7,UBE2A,UPF3B, USP27X,USP9X,USP9X,WDR13,ZC4H2,ZCCHC12, ZDHHC15,ZDHHC9,ZMYM3,ZNF41,ZNF674,ZNF711,ZNF81 |
| EXN1078 | Autismo | ADCY3,ADNP,AFF2,AGAP2,ALDH5A1,ALDH7A1,AMT,
ANK3,AP1S2,ARX,ATRX,AUTS2,AVPR1A,BDNF, BDNF,BRAF,CACNA1C,CASK,CDKL5,CHD7,CHD8, CIC,CLASP1,CNOT3,CNTNAP2,CREBBP,CTNNB1, CTNND2,DDC,DHCR7,DHFR,DIP2C,DPP6,DYNC1H1, DYRK1A,EHMT1,FAM47A,FGD1,FMR1,FOLR1,FOXG1, FOXG1,FOXP1,FOXP2,GAMT,GATM,GCH1,GRIK4, GRIN2A,GRIN2B,HDAC8,HERC2HPRT1,IL1RAPL1, KCNQ2,KDM5C,KIAA2022,LAMC3,MBD5,MECP2, MED12,MED13,MEF2C,MET,MID1,MYO5A,NHS,NIPBL, NLGN3,NLGN4X,NRXN1,NSD1,NTNG1,OPHN1, PAFAH1B1,PAX5,PCBD1,PCDH11X,PCDH19,PHF3,PHF6, PLP1,PNKP,PNPO,PQBP1,PTCHD1,PTEN,PTPN11,PTS, QDPR,RAB39B,RAD21,RAI1,RPL10,SCN1A,SCN2A,SETBP1, SHANK3,SLC18A1,SLC18A2,SLC2A1,SLC6A3,SLC6A8,SLC9A6, SMARCB1,SMARCC2,SMC1A,SPR,SRSF11,STXBP1,TAF6, TBX1,TCF4,TH,TMLHE,TSC1,TSC2,UBE2A,UBE3A,UBN2, UPF3B,VPS13B,ZEB2 |
| EXN1001 | Síndrome de Aicardi Goutieres | ADAR,IFIH1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,
TREX1 |
| EXN1101 | Síndrome de Adams-Oliver | ARHGAP31,DLL4,DOCK6,EOGT,NOTCH1,RBPJ |
| EXN1106 | Talla baja | ATRX,BLM,BTK,CREBBP,CUL7,DHCR7,EP300,ERCC6,
ERCC8,FGD1,GH1,GHR,GHRHR,GLI2,GLI2,HESX1, IGF1,IGF1R,INSR,KDM6A,KRAS,LHX3,KMT2D,NBN, NIPBL,PITX2,POU1F1,PROP1,PTPN11,RAF1,ROR2, RPS6KA3,SHOX,SMARCAL1,SMC1A,SMC3,SOS1, SOX2,SOX3,SRCAP,STAT5B,STAT5B,TBCE,THRB,TRIM37,WRN |
| EXN1110 | Síndrome de Hermansky‐Pudlak | ABCA3,AP3B1,BLOC1S6,CSF2RA,DTNBP1,ELMOD2,
HPS1,HPS3,HPS4,HPS5,HPS6,MUC5B,NKX2-1, SFTPA1,SFTPA1,SFTPA2,SFTPB,SFTPC,SFTPD,TERT |
| EXN1012 | Rasopatías | A2ML1,BRAF,CBL,HRAS,KRAS,LZTR1,MAP2K1,
MAP2K2,NF1,NRAS,PTPN11,RAF1,RASA1,RASA2, RASA2,RIT1,RRAS,SHOC2,SOS1,SOS2,SPRED1 |
| EXN1116 | Síndrome de Meckel | B9D1,B9D2,CC2D2A,CEP290,KIF14,MKS1,NPHP3,
RPGRIP1L,TCTN2,TMEM107,TMEM216,TMEM231, TMEM67 |
| EXN1121 | Síndrome de Jarcho Levin | ACVR1,ANKRD11,CHD7,CHRNG,DLL3,FLNB,GDF6,
GPC3,HES7,HSPG2,IKBKG,JAG1,KMT2B,LFNG,LFNG, MESP2,MKKS,MNX1,NOTCH2,PAX1,RECQL4,ROR2, SLC26A2,SOX9,WNT4 |
| EXN1124 | Displasia septoóptica | KAL1,ARNT2,CDON,DHCR7,DISP1,FGF8,FGFR1,GAS1,
GLI2,HESX1,LHX3,LHX4,OTX2,PAX6,PAX6,PROKR2, PROP1,PTCH1,SHH,SIX3,SOX2,SOX3,SUFU,TAX1BP3, TGIF1,ZIC2 |
| EXN1127 | Síndrome de Waardenburg | EDN3,EDNRB,KIT,MITF,PAX3,SNAI2,SOX10 |
| EXN1135 | Protuberancia Preauricular | ALX3,ANKRD11,APRT,ARID1B,B3GALTL,BCOR,CCDC22,
CDK5RAP2,CHD7,COL25A1,EDNRA,EFTUD2,EYA1, FGFR1,FGFR1,FLNB,GLI3,GNAI3,GPC3,IRX5,KDM6A, KIF7,KMT2D,MAFB,NAA10,PLCB4,SALL1,SEMA3E, SF3B4,SIX1,SIX5,SIX6,SPG7,TCOF1,TXNL4A,UBE3B,VPS13B |
| EXN1144 | Asociación VACTERL/VATER y
síndromes incluidos en el diagnóstico diferencial |
CHD7,FAM58A,FBN2,FGF8,FOXF1,FRAS1,FREM2,GDF6,
GLI3,HAAO,HOXA13,HOXD13,JAG1,KCNJ2,KCNJ2, KYNU,LPP,LRP4,MID1,MKKS,MNX1,MYCN,NIPBL, NOTCH2,PTEN,RBM8A,RECQL4,RPL35A,RPL5,RPS10, RPS11,RPS17,RPS19,RPS24,RPS26,RPS7,SALL1,SALL4, SMC1A,SMC3,SOX2,SOX2,SPINT2,TBX3,TBX5,TRAP1, VANGL1,WNT4,WNT5A,WNT7A,ZIC3 |
| EXN1148 | Síndromes orofaciodigital | C2CD3,C5orf42,DDX59,IFT57,INTU,KIAA0753,NEK1,
OFD1,SCLT1,TBC1D32,TCTN3,TMEM107,TMEM138, TMEM216,TMEM216,TMEM231,WDPCP |
| EXN1016 | Trastornos Congénitos de la
Morfogénesis Cerebral |
ACTB,ACTG1,GPR56,AKT3,AMPD2,ARFGEF2,ARX,
ASNS,ASPM,ATP6V0A2,B3GALNT2,B3GALTL,B3GNT1, BRWD3,BRWD3,CASK,CCND2,CDK5,CDK5RAP2,CDON, CENPJ,CEP135,CEP152,CEP63,CHD7,CHMP1A,CLP1, COL18A1,COL4A1,COL4A2,COL4A4,CPT2,CUL4B,DCX, DISP1,DLL1,DYNC1H1,DYRK1A,EMX2,EOMES,ERMARD, ERMARD,EXOSC3,EXOSC8,FAT4,FGF8,FGFR3,FH,FKRP, FKTN,FLNA,FOXH1GAS1,GLI2,GLI3,GMPPB,GPSM2,HESX1, IER3IP1,ISPD,KATNB1,KCNT1,KIAA1279,KIF2A,KIF5C, KIF7,L1CAM,LAMA2,LAMB1,LAMC3,LARGE,MBD5,MCPH1, MED12,MED17,MEF2C,MTOR,NDE1,NODAL,NSDHL,OCLN, OFD1,OPHN1,OTX2,PAFAH1B1,PAX3,PAX6,PCLO,PEX7, PIK3CA,PIK3R2,POMGNT1,POMGNT2,POMK,POMT1,POMT2, PQBP1,PTCH1,PTEN,RAB18,RAB3GAP1,RAB3GAP2,RARS2, RELN,RTTN,SEPSECS,SHH,SIX3,SLC12A6,SNAP29,SOX2, SOX3,SRD5A3,SRPX2,STIL,TBC1D20,TBC1D24,TDGF1,TGIF1, TMEM5,TSC1,TSC2,TSEN2,TSEN34,TSEN54,TUBA1A,TUBA8, TUBB,TUBB2A,TUBB2B,TUBB3,TUBB4A,TUBG1,UPF3B, VLDLR,VPS53,VRK1,WDR62,YWHAE,ZEB2,ZIC2,ZNF462 , |
| EXN1022 | Síndrome de Kabuki | ANKRD11,CDH7,KDM1A,KDM6A,KMT2A,KMT2D,SOX3 |
| EXN1034 | Displasias Óseas | ACP5,ALPL,ANKH,ANO5,ARHGAP31,ARSE,ATP6V0A2,
B3GALT6,B4GALT7,BMP2,BMPR1B,CA2,CANT1,CASR, CASR,CC2D2A,CDH3,CDKN1C,CEP290,CHST14,CHST3, CHSY1,CLCN5,CLCN7,COL10A1,COL11A1,COL11A2,COL1A1, COL1A2,COL2A1,COL9A1,COL9A2,COL9A3,COMP,CRTAP, CTSK,CUL7,DDR2,DHCR24,DLX3,DMP1,DMP1,DYM,DYNC2H1, EBP,EIF2AK3,ENPP1,ESCO2,EVC,EVC2,EXT1,EXT2AMER1, FAM20C,FBLN1,FBN1,FBXW4,FERMT3,FGF10,FGF23, FGFR1,FGFR2,FGFR3,FKBP10,FLNA,FLNB,FMN1,GALNT3, GDF5,GJA1,GLI3,GNAS,GORAB,GPC6,GREM1,HDAC4, HOXD13,HPGD,HSPG2,ICK,IFITM5,IFT122,IFT140,IFT80, IHH,KIF22,KIF7,LEMD3,LEPRE1,LIFR,LMBR1,LMNA, LRP4,LRP5,MAFB,MATN3,MGP,MKS1,MMP13,MMP2, MMP9,MTAP,MYCN,NEK1,NIPBL,NKX3-2,NOG,NOTCH2, NPR2,NSDHL,OBSL1,OSTM1,PAPSS2,PCNT,PEX7,PHEX, PIGV,PITX1,PLEKHM1,PLOD2,PPIB,PRKAR1A,PTDSS1,PTH1R, PTHLH,PTPN11,PYCR1,RASGRP2,RECQL4,ROR2,RPGRIP1L, RUNX2,SALL1,SALL4,SERPINH1,SH3PXD2B,SHH,SHOX, SLC25A12,SLC26A2,SLC34A3,SLC35D1,SLC39A13,SLCO2A1, SMARCAL1,SNX10,SOST,SOX9,SP7,SULF1,TBCE,TBX15,TBX3, TBX5,TBXAS1,TCIRG1,TCTN3,TGFB1,THPO,TMEM216, TMEM67,TNFRSF11A,TNFRSF11B,TNFSF11,TP63,TREM2, TRIP11,TRPS1,TRPV4,TYROBP,WDR35,WISP3,WNT3,WNT5A, WNT7A,ZMPSTE24 , |
| EXN1037 | Síndrome de Donnai-Barrow | LRP2,GPSM2,KIF7,CLCN5,OCRL,EFNB1 |
| EXN1038 | Microcefalia Primaria Hereditaria y
Síndrome de Meier-Gorlin |
AAAS,AIMP1,ARFGEF2,ARNT2,ASNS,ASPM,ASXL1,
ASXL3,ATP6V0A2,ATR,ATRX,AUTS2,BUB1B,CASC5,CASC5, CASK,CDC6,CDK5RAP2,CDK6,CDKL5,CDT1,CENPE,CENPF, CENPJ,CEP135,CEP152,CEP63,CIT,CLP1,COX7B,CREBBP, CRIPT,CTCF,CTNNB1,CYB5R3,DHCR24,DIAPH1,DKC1,DNA2, DOCK6,DPM1,DPM1,DYNC1H1,DYRK1A,EFTUD2,EIF2S3, EP300,EPG5,ERCC6,EXOSC3,FANCA,FOXG1GLYCTK,GMPPB, HMGB3,IER3IP1,KATNB1,KDM5C,KIAA1279,KIF11,KIF2A,KIF5C, LIG4,MBD5,MCM4,MCPH1,MECP2,MED17,MFSD2A,MYCN,NBN, NDE1,NHEJ1,NIN,NIPBL,NSDHL,OCLN,ORC1,ORC4,ORC6,PAK3, PCNT,PDHA1,PHC1,PHGDH,PLK4,PNKP,POMT1,PPP1R15B, PQBP1,PYCR2,QARS,RAB18,RAB3GAP1,RAB3GAP2,RBBP8,SASS6, SEPSECS,SF3B4,SHH,SLC16A2,SLC1A4,SLC25A19,SLC2A1,SLC9A6, SMAD4,SOX11,SOX2,SPATA5,STAMBP,STIL,TAF2,TBC1D20,TBX1, TCF4,THOC6,TRAPPC9,TRMT10A,TSEN2,TSEN34,TSEN54,TUBA1A, TUBB,TUBGCP4,TUBGCP6,UBE3A,USP18,VPS13B,VPS53,WDR62,ZEB2,ZNF335 |
| EXN1044 | Síndrome de Sotos y síndromes relacionados | EZH2,GPC3,NFIX,NSD1 |
| EXN1005 | Síndrome de Cornelia de Lange | HDAC8,NIPBL,RAD21,SMC1A,SMC3 , |
| EXN1051 | Artrogriposis | CHST14,ECEL1,FBN2,MYBPC1,MYH3,MYH8,PIEZO2,
TNNI2,TNNT3,TPM2 |
| EXN1054 | Síndrome de Coffin-Siris | ARID1A,ARID1B,SMARCA4,SMARCB1,SMARCE1 , |
| EXN1006 | Craneosinostosis | COLEC11,CYP26B1,EFNB1,ERF,FBN1,FGFR1,FGFR2,FGFR3,
FREM1,GLI3,IFT122,IL11RA,MASP1,MSX2,MSX2,RAB23, RECQL4,TCF12,TGFBR1,TWIST1,ZIC1,ALX4,POR |
| EXN1055 | Síndrome de Rubinstein-Taybi | CREBBP,EP300 , |
| EXN1061 | Osteogénesis Imperfecta | ALPL,BMP1,COL1A1,COL1A2,CREB3L1,CRTAP,FKBP10,IFITM5,
LEPRE1,LRP5,PLOD2,PLS3,PPIB,SERPINF1,SERPINF1, SERPINH1,SP7,TMEM38B,WNT1 , |
| EXN1062 | Síndrome de Robinow | DVL1,DVL3,FGD1,KDM6A,KMT2D,MID1,ROR2,SPECC1L,WNT5A , |
| EXN1064 | Disostosis facial | CHD7,DHODH,EFTUD2,MYCN,POLR1C,POLR1D,SF3B4,TCOF1 |
| EXN1082 | Malformación de miembros | AKT1,ALX4,ARHGAP31,ARL6,B3GAT3,B9D1,B9D2,BBS1,BBS10,
BBS12,BBS2,BBS4,BBS5,BBS7,BBS7,BBS9,BHLHA9,BMP2,BMPR1A, BMPR1B,CC2D2A,CDH3,CEP290,CHRNG,CHST3,CHSY1,CREBBP, DHCR7,DHODH,DKK1,DLX5,DOCK6,EIF4A3,EN1,ESCO2, EVC,EVC2,EXT1,FBLN1,FBN1,FBXW4,FBXW4,FGF10,FGF16, FGF4,FGF8,FGF9,FGFR1,FGFR2,FGFR3,FMN1,FRAS1FREM2, GDF5,GJA1,GLI3,GNAS,GPC3,GREM1,GRIP1,HAND2,HDAC4, HOXA13,HOXD13,IDH1,IDH2,IFT122,IFT43,IHH,KIF7,LMBR1, LMX1B,LRP4,MGP,MKKS,MKS1,MYCN,MYH3,NECTIN4,NIPBL, NKX2-5,NOG,NPHP3,NPR2,OFD1,PDE4D,PIGV,PIK3CA,PITX1,POR, PORCN,PRKAR1A,PTCH1,PTCH2,PTEN,PTH1R,PTHLH,RAB23, RAD21,RBPJ,RECQL4,ROR2,RPGRIP1L,RUNX2,SALL1,SALL4, SETD5,SF3B4,SHH,SHOX,SLC26A2,SMC3,SOX5,SOX6,SOX9, SPRY4,TBX15,TBX3,TBX4,TBX5,TCTN2,TMEM216,TMEM67, TP63,TRAP1,TRIM32,TRPS1,TTC8,TWIST1,WDR19,WDR35, WNT10B,WNT3,WNT7A |
| EXN1088 | Fisura palatina y labio leporino | BMP4,FGF8,FGFR2,IRF6,LHX8,MSX2,PVRL1,SATB2,TBX10,
TBX22,TGFBR1,VAX1 |
| EXN1090 | Síndrome de Bardet-Biedl | ARL6,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,
CCDC28B,CEP290,IFT27,LZTFL1,LZTFL1,MKKS,MKS1, SDCCAG8,TMEM67,TRIM32,TTC8,WDPCP |
| EXN1091 | Sobrecrecimiento y macrocefalia | AIP,AKT1,AKT2,AKT3,CDKN1C,CUL4B,DICER1,DIS3L2,
DNMT3A,EZH2,FBN1,FGFR3,FGFRL1,FMR1,FMR1,GLI3, GNAQ,GPC3,HERC1,HMGA2,IGF1R,LRP4,MED12,MTOR, NFIX,NSD1,PAX1,PDGFRB,PHF6,PIK3CA,PIK3R2,PPP2R5B, PPP2R5C,PTCH1,PTEN,RASA1,RNF125,RNF135,SETD2,SIM1, TGFB3,TGFB3,UPF3B |
| EXN1093 | Síndrome de Angelman y
síndromes incluidos en el diagnóstico diferencial |
ADSL,ARX,ATRX,CDKL5,CNTNAP2,CTNNB1,EHMT1,FOLR1,
FOXG1,HERC2,MBD5,MECP2,MEF2C,MTHFR,MTHFR,NRXN1, OPHN1,PCDH19,PNKP,PQBP1,SLC2A1,SLC9A6,TCF4,UBE3A,ZEB2 |
| EXN1092 | Hemiplejia alternante de la infancia | ATP1A2,ATP1A3,CACNA1A,SLC1A3,SLC2A1 |
Diseños ExoNIM
Mitocondriales, peroxisomales y lisosomales
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1010 | Alteraciones mitocondriales secundarias
a mutaciones del DNA nuclear |
AARS2,ABCB7,ACAD9,ACO2,ADCK3,AFG3L2,
AGK,AIFM1,ALAS2,APTX,ATP5E,ATPAF2, AUH,BCS1L,BCS1L,BOLA3,BTD,C10orf2, C12orf65,CISD2,COA5,COQ2,COQ6,COQ9, COX10,COX14,COX15,COX20,COX6B1,DARS2, DGUOK,DLAT,DLD,DNA2,DNAJC19,DNM1L, EARS2,ECHS1,ETFA,ETFB,ETFDH,ETFDH, ETHE1,FARS2,FASTKD2,FBP1,FBXL4,FH, FOXRED1,G6PC,GFER,GFM1GFM2,GYS2, HARS2,HIBCH,HLCS,HSPD1,IARS2,ISCU, LARS,LIAS,LIPT1,LRPPRC,MARS2,MFN2, MPC1,MPV17,MRPL44,MRPS16,MRPS22, MTFMT,MTO1,MTPAP,NDUFA1,NDUFA10, NDUFA11,NDUFA12,NDUFA2,NDUFA9,NDUFAF1, NDUFAF2,NDUFAF3,NDUFAF4,NDUFAF5, NDUFAF6,NDUFAF7,NDUFB3,NDUFB9,NDUFS1, NDUFS2,NDUFS3,NDUFS4,NDUFS6,NDUFS7, NDUFS8,NDUFV1,NDUFV2,NFU1,NUBPL,OPA1, OPA3,PC,PDHA1,PDHB,PDHX,PDP1,PDSS1,PDSS2, PNPT1,POLG,POLG2,PUS1,RARS,RARS2,REEP1, RMND1,RNASEH1,RRM2B,SARS2,SCO1,SCO2, SDHAF1,SERAC1,SLC19A3,SLC25A19,SLC25A3, SLC25A4,SLC37A4,SPG7,SUCLA2,SUCLG1,SURF1, TACO1,TAZ,TIMM44,TIMM8A,TK2,TMEM126A, TMEM70,TPK1,TRMU,TSFM,TTC19,TUFM, TYMP,UQCRB,UQCRQ,WFS1,YARS2 , |
| EXN1058 | Enfermedades peroxisomales y lisosomales | ACOX1,AGA,AGPS,AGXT,AMACR,ARSA,
ARSB,ASAH1,CAT,CLN3,CLN5,CLN6,CLN8, CTNS,CTNS,CTSA,CTSC,CTSD,CTSD,CTSK, DNAJC5,DNM1L,FAR1,FUCA1,GAA,GALC,GALNS, GBA,GLA,GLB1,GM2A,GNPAT,GNPTAB,GNPTG, GNS,GUSB,HEXA,HEXB,HGSNAT,HSD17B4,HYAL1, HYAL1,IDS,IDUA,LAMP2,LIPA,LMBRD1, MAN2B1,MANBA,MCOLN1,MFSD8,NAGANAGLU, NAGPA,NEU1,NPC1,NPC2,PEX1,PEX10,PEX11B, PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26, PEX3,PEX5,PEX6,PEX7,PHYH,PPT1,PSAP,SCP2, SGSH,SLC17A5,SMPD1,SUMF1,TPP1,TRIM37 |
Listado de estudios genéticos de ADN mitocondrial
| Código | Enfermedad | Gen | Procedimiento | Plazo* |
|---|---|---|---|---|
| MIT1001 | ADN MITOCONDRIAL | ADN mitocondrial completo | Secuenciación NGS | 50 |
| MIT1101 | Miopatías mitocondriales frecuentes (CPEO o KSS) |
– | Análisis mediante MLPA | 20 |
| MIT1201 | Cardiopatías mitocondriales frecuentes | MT-TI, MT-TL | Secuenciación completa | 35 |
| MIT1202 | Cardiopatías mitocondriales | MT-CYB, MT-TI, MT-TL | Secuenciación completa | 35 |
| MIT1301 | Encefalopatía mitocondrial de Leigh | – | Análisis mediante MLPA | 20 |
| MIT1302 | Encefalopatías mitocondriales frecuentes: Leigh, MELAS, MERRRF |
MT-ATP6, MT-ND3, MT-ND4, MT-ND5, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TW |
Secuenciación completa | 35 |
| MIT1303 | Encefalopatías mitocondriales, otras | MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-TG, MT-TS1, MT-TV |
Secuenciación completa | 45 |
| MIT1401 | Miopatías mitocondriales | MT-TA , MT-TE, MT-TI, MT-TN, MT-TL1, MT-TL2, MT-TS1 |
Secuenciación completa | 35 |
| MIT1402 | Miopatías mitocondriales frecuentes (CPEO, KSS) |
MT-TI, MT-TN, MT-TL1, MT-TL2 | Secuenciación completa | 35 |
| MIT1501 | Neuropatía óptica de Leber (LOHN) | MT-ND1, MT-ND4, MT-ND6 | Secuenciación completa | 35 |
| MIT1502 | Neuropatía, ataxia y retinitis pigmentaria (NARP)/ Neuropatía óptica de Leber (LOHN) |
MT-ATP6, MT-ND1, MT-ND4, MT-ND6 |
Secuenciación completa | 35 |
(*): días laborables desde la recepción de la muestra