Transtornos neurológicos, transtornos do neurodesenvolvimento e síndromes polimalformativas
Os transtornos neurológicos geralmente apresentam uma clínica complexa e elevada heterogeneidade genética. O estudo através de sequeciamento massivo permite a análise de múltiplos genes em paralelo, o que dá a esta tecnologia um grande poder diagnóstico, de uma forma rápida e custo efetiva.
Da mesma forma, outras abordagens podem ser a ferramenta de primeira escolha para certos grupos de distúrbios neurológicos, como, por exemplo, o estudo de ataxias espinocerebelares através da análise de expansões de repetições de nucleotídeos.
ExoNIM®
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 DNA 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
Neurología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1100 | Enfermedades por trastorno del metabolismo
del glucógeno |
AGL,ALDOA,ENO3,EPM2A,FBP1,FBP2,
G6PC,GAA,GBE1,GYG1,GYG2,GYS1,GYS2 ,LAMP2,LAMP2,LDHA,NHLRC1,PFKL, PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKA2, PHKB,PHKG1,PHKG2,PRKAG2,PYGL, PYGM,SLC2A2,SLC37A4 |
| EXN1073 | Neuroacantocitosis, Enfermedad de Wilson y
Enfermedad por depósitos de hierro |
ATN1,ATP13A2,ATP7B,C19orf12,COASY,
CP,DCAF17,FA2H,FTL,FUCA1,HPRT1, KIF1A,PANK2,PLA2G6,PLA2G6,SQSTM1, TAF1,TRIM32,VPS13A,WDR45,XK |
| EXN1092 | Hemiplejia alternante de la infancia | ATP1A2,ATP1A3,CACNA1A,SLC1A3,SLC2A1 |
| EXN1140 | Neuro-Oftalmología | APTX,ACO2,AFG3L2,C10orf2,C12orf65,
FRMD7,GPR143,HESX1,MFN2,NBAS, NDUFS1,NR2F1,OPA1,OPA3,OPA3,OTX2, PAX6,POLG,ROBO3,RRM2B,RTN4IP1, SALL4,SETX,SLC25A4,SLC25A46,SOX2, SPG7,TIMM8A,TK2,TMEM126A,TUBB3, TYMP,WFS1,YME1L1 , |
| EXN1021 | Síndrome de Joubert | AHI1,ARL13B,ARMC9,B9D2,C2CD3,C5orf42,
CC2D2A,CEP104,CEP120,CEP164,CEP290, CEP41,CSPP1,EXOC8,EXOC8,IFT172,INPP5E, KIAA0556,KIAA0586,KIAA0753,KIF7,MKS1, NPHP1,NPHP3,OFD1,PDE6D,POC1B,RPGRIP1L, TCTN1,TCTN2,TCTN3,TMEM107,TMEM138, TMEM216,TMEM231,TMEM237,TMEM67,TTC21B, ZNF423 |
| EXN1032 | Angioma Cavernoso Familiar | CCM2,KRIT1,PDCD10 |
| EXN1096 | Migraña hemipléjica familiar | ATP1A2,CACNA1A,PRRT2,SCN1A |
| EXN1011 | Neuropatia Distal Hereditaria | ATP7A,BSCL2,DCTN1,DNAJB2,FIG4,GAN,GARS,
HINT1,HSPB1,HSPB3,HSPB8,IGHMBP2, MEGF10,PLEKHG5,PLEKHG5,REEP2,SETX, SLC5A7,TRPV4 |
| EXN1105 | Síndrome de Hipoventilación Central Congénita | ASCL1,BDNF,CHAT,CHRNA1,CHRNB1,CHRND,
CHRNE,COLQ,EDN3,GDNF,GLRA1,MECP2, PHOX2B,RAPSN,RAPSN,RET,SCN4A,SLC6A5,ZEB2 |
| EXN1117 | Ictus-Hemiplejia | ACTA2,ATP1A2,ATP1A3,CACNA1A,COL4A1,COL4A2,
GLA,HTRA1,ITM2B,NOTCH3,OTC,POLG,SCN1A, SLC2A1,SLC2A1,TREX1 |
| EXN1137 | Neuropatia sensitivo y autonómica | DNMT1,SCN9A,ATL1,ATL3,CCT5,DST,FAM134B,
IKBKAP,KIF1A,NGF,NTRK1,PRDM12,SCN11A, SPTLC1,SPTLC1,SPTLC2,WNK1 |
| EXN1147 | Hipertermia Maligna | CACNA1S,RYR1,STAC3 |
| EXN1002 | Ataxia espinocerebelosa | AFG3L2,CACNA1A,CCDC88C,DNMT1,EEF2,
ELOVL4,FGF14,IFRD1,ITPR1,KCNC3,KCND3, PDYN,PLEKHG4,PRKCG,PRKCG,SPTBN2,TGM6, TTBK2,VAMP1 |
| EXN1020 | Canalopatías Neuromusculares | AGRN,ATP2A1,CACNA1A,CACNA1S,CHRNA1,
CHRNA2,CHRNA4,CHRNB1,CHRNB2,CHRND, CHRNE,CLCN1,COL6A3,DMPK,DMPK,GAA,GBE1, KCNJ18,KCNJ2,KCNT1,PNKP,RYR1,SCN1A,SCN1B, SCN4A,SCN8A,SLC25A22,SLC35A2,SPTAN1,ST3GAL3 |
| EXN1025 | Paraplejia Espástica Hereditaria | ALDH18A1,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,
ARL6IP1,ATL1,ATP13A2,B4GALNT1,BSCL2,C12orf65, C19orf12,C19orf12,CAPN1,CCT5,CPT1C,CYP2U1, CYP7B1,DDHD1,DDHD2,ENTPD1,ERLIN1,ERLIN2, FA2H,GALC,GBA2,GJC2,HSPD1,IBA57,KIAA0196, KIF1A,KIF5A,L1CAM,MAG,NIPA1,NT5C2,PLP1,PNPLA6, REEP1,REEP1,REEP2,RTN2,SLC16A2,SLC33A1,SPAST, SPG11,SPG20,SPG21,SPG7,TECPR2TFG,USP8,VPS37A, ZFYVE26,ZFYVE27 |
| EXN1026 | Leucodistrofias | ABCD1,ACOX1,ADGRG1,AIMP1,ARSA,ASPA,C19orf12,
CSF1R,CTC1,DARS,DARS2,EIF2B1,EIF2B2,EIF2B3, EIF2B3,EIF2B4,EIF2B5,ERCC2,ERCC3,ERCC6, ERCC8,FA2H,FAM126A,FUCA1,GALC,GFAP,GJA1, GJC2,GTF2H5,HEPACAM,HSPD1,IFIH1,L1CAM, L2HGDH,LMNB1,MLC1,MPLKIP,PANK2,PEX1, PEX10,PLA2G6,PLA2G6,PLP1,POLR3A,POLR3B, PSAP,RANBP2,RARS,RNASEH2A,RNASEH2B, RNASEH2C,SAMHD1SLC16A2,SLC17A5,SNAP29, SOX10,TREX1,TUBB4A,VPS11 |
| EXN1027 | Alzheimer de inicio precoz | APP,PSEN1,PSEN2,SQSTM1 |
| EXN1003 | Charcot-Marie Tooth y neuropatías
hereditarias sensitivo-motoras relacionadas |
AARS,AIFM1,ARHGEF10,ATL1,ATL3,ATP7A,BAG3,
BSCL2,C12orf65,CCT5,COX6A1,CTDP1,DCTN1, DHTKD1,DHTKD1,DNAJB2,DNM2,DNMT1,DRP2, DYNC1H1,EGR2,FAM134B,FBLN5,FGD4,FIG4,GAN, GARS,GDAP1,GJB1,GNB4,HARS,HINT1,HK1,HOXD10, HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1A,KIF1B, KIF1B,KIF5A,LITAF,LMNA,LRSAM1,MARS,MED25, MFN2,MME,MORC2,MPZMTMR2,NDRG1,NEFL, NGF,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A, SBF1,SBF2,SH3TC2,SLC25A46,SPG11,SPTLC1, SPTLC2,SURF1,TFG,TRIM2,TRPV4,VCP,WNK1,YARS |
| EXN1028 | Miopatía por desproporción de fibras y
Síndrome de Shprintzen-Goldberg |
ACAD9,ACADM,ACADVL,AGL,ALDOA,AMPD1,
ANO5,ATP2A1,C10orf2,CASQ1,CPT2,ETFA,ETFB, ETFDH,ETFDH,GAA,GYG1,GYS1,HADHA,HADHB, LDHA,LPIN1,OPA1,PFKM,PGAM2,PGM1,PHKA1, PYGM,RBCK1,RYR1,SLC22A5,SUCLA2,TK2 |
| EXN1029 | Miopatia congénita de núcleos centrales | B3GALNT2,B3GNT1,CHKB,COL12A1,COL6A1,
COL6A2,COL6A3,DAG1,DMD,DPM1,DPM2,DPM3, FKRP,FKTN,FKTN,GMPPB,INPP5K,ISPD,ITGA7, LAMA2,LARGE,LMNA,POMGNT1,POMGNT2, POMK,POMT1,POMT2,TMEM5 |
| EXN1030 | Charcot-Marie Tooth tipo 2 | AARS,DHTKD1,DNM2,GARS,GDAP1,GJB1,HARS,
HINT1,HSPB1,HSPB8,KIF5A,LRSAM1,MARS, MED25,MED25,MFN2,MPZ,NEFL,PDK3,PRPS1, RAB7A,TFG,TRIM2,TRPV4 |
| EXN1033 | Ataxias | ABHD12,ADCK3,GPR56,AFG3L2,ALDH5A1,ANO10,
APTX,ATCAY,ATM,ATN1,ATP8A2,ATXN1,ATXN10, ATXN2,ATXN2,ATXN3,ATXN7,BEAN1,C10orf2,CA8, CACNA1A,CACNB4,CAMTA1,CC2D2A,CCDC88C, CLCN2,CLN5,COQ2,COQ9,COX20,CP,CWF19L1,CYP27A1, DARS2,DNAJC19,DNMT1,EEF2,EIF2B1,EIF2B2,EIF2B3, EIF2B4,EIF2B4,EIF2B5,ELOVL4,ELOVL5,EXOSC3,FGF14, FLVCR1,FMR1,FXN,GBA2,GRID2GRM1,GSS,IFRD1, IFT140,ITPR1,KCNA1,KCNC3,KCNJ10,KIF1C,MARS2, MECP2,MRE11A,MTPAP,MTTP,NOP56,OPA1,PAX6, PC,PCNA,PDHA1,PDYN,PEX7,PIK3R5,PLEKHG4, PNKP,PNPLA6,POLG,PPP2R2B,PRKCG,PRNP,PRPS1, RNF170,RPGRIP1L,KIAA0226,SACS,SCN8A,SETX,SIL1, SLC1A3,SLC2A1,SLC52A2,SLC9A6,SNX14,SPG7, SPTBN2,STUB1,SYNE1,SYT14,TBP,TDP1,TGM6, TMEM67,TPP1,TTBK2,TTPA,TUBB4A,VAMP1, VLDLR,WDR81,WFS1,WWOX,ZNF592 , |
| EXN1036 | Distrofia Muscular de Cinturas (LGMD) | ANO5,BVES,CAPN3,CAV3,DAG1,DES,DNAJB6,
DYSF,FKRP,FKTN,FLNC,GAA,GMPPB,HNRNPDL, HNRNPDL,ISPD,LIMS2,LMNA,MYOT,PLEC,PNPLA2, POGLUT1,POMGNT1,POMT1,POMT2,SGCA,SGCB, SGCD,SGCG,SMCHD1,TCAP,TNPO3,TOR1AIP1, TRAPPC11,TRIM32,TTN , |
| EXN1043 | Esclerosis Lateral Amiotrófica y
síndromes incluidos en el diagnóstico diferencial |
ALS2,ANG,AR,BSCL2,C9orf72,CHMP2B,DCTN1,
ERBB4,FIG4,FUS,GBE1,HNRNPA1,MATR3,OPTN, OPTN,PFN1,SETX,SIGMAR1,SOD1,SPG20,TARDBP, UBQLN2,VAPB,VCP , |
| EXN1045 | Miopatías | ACAD9,ACADM,ACADVL,ACTA1,AGL,AGRN,ALDOA,
AMPD1,ANO5,B3GALNT2,B3GNT1,B3GNT2,BIN1, BVES,BVES,C10orf2,CACNA1S,CAPN3,CASQ1,CAV3, CCDC78,CFL2,CHKB,CHRNA1,CHRNB1,CHRND, CHRNE,CNTN1,COL12A1,COL6A1,COL6A2,CPT2, DAG1,DES,DMD,DNAJB6,DNM2,DPM1,DPM2,DPM3, DYSF,DYSF,EMD,ETFA,ETFB,ETFDH,FHL1,FKBP14, FKRP,FKTN,FLNC,GAAGBE1,GMPPB,GYG1,GYS1, PTPLA,HADHA,HADHB,HNRNPDL,HRAS,INPP5K, ISPD,ITGA7,KBTBD13,KCNJ18,KCNJ2,KLHL40, KLHL41,LAMA2,LARGE,LDHA,LIMS2,LMNA, LMOD3,LPIN1,MEGF10,MTM1,MYF6,MYH7,MYOT, MYPN,NEB,OPA1,PFKM,PGAM2,PGM1,PHKA1, PLEC,PNPLA2,POGLUT1,POMGNT1,POMGNT2, POMK,POMT1,POMT2,PYGM,RBCK1,RYR1,SCN4A, SEPN1,SGCA,SGCB,SGCD,SGCG,SKI,SLC22A5, SLC35A2,SMCHD1,STAC3,SUCLA2,TCAP,TK2, TMEM5,TNNT1,TNPO3,TOR1AIP1,TPM2,TPM3, TRAPPC11,TRIM32,TTN , |
| EXN1052 | Distonías | ANO3,ATP1A3,CACNA1B,CIZ1,COL6A3,DRD2,
DRD5,GCH1,GNAL,HPCA,KCTD17,MR1,PANK2, PARK2,PARK2,PLA2G6,PNKD,PRKRA,PRRT2, SCP2,SGCE,SLC2A1,SLC30A10,SLC6A3,SPR,TAF1, TH,THAP1,TOR1A,TUBB4A , |
| EXN1053 | Parkinson | ATP13A2,DNAJC6,EIF4G1,FBXO7,GBA,HTRA2,
LRRK2,MAPT,PARK2,PARK7,PINK1,PLA2G6, POLG,SLC6A3,SLC6A3,SNCA,SYNJ1,UCHL1,VPS35 , |
| EXN1056 | Distrofias musculares | ANO5,BVES,CAPN3,CAV3,COL12A1,COL6A1,
COL6A2,COL6A3,DAG1,DES,DMD,DNAJB6, DYSF,EMD,EMD,FHL1,FKRP,FKTN,FLNC,GAA, GMPPB,HNRNPDL,ISPD,LIMS2,LMNA,MYOT, PLEC,PNPLA2,POGLUT1,POMGNT1,POMT1, POMT2,SGCA,SGCB,SGCD,SGCG,SMCHD1,TCAP, TNPO3,TOR1AIP1,TRAPPC11,TRAPPC11,TRIM32,TTN |
| EXN1057 | Enfermedad de Fahr | PDGFB,PDGFRB,SLC20A2,XPR1 |
| EXN1065 | Miastenia congénita | ACTA1,BIN1,CCDC78,CFL2,CNTN1,COL12A1,
DNM2,FKBP14,HRAS,KBTBD13,KLHL40, KLHL41,LMNA,LMOD3,LMOD3,MEGF10,MTM1, MYF6,MYH7,MYPN,NEB,PTPLA,RYR1,SCN4A, SEPN1,SKI,STAC3,TNNT1,TPM2,TPM3 , |
| EXN1067 | Lipofuscinosis Cerebral | ARSG,ATP13A2,CLN3,CLN5,CLN6,CLN8,CTSD,
CTSF,DNAJC5,GRN,KCTD7,MFSD8,PPT1,TPP1,TPP1 , |
| EXN1068 | Coreoatetosis | ADCY5,HSD17B10,MR1,NKX2-1,PRRT2,SLC2A1 |
| EXN1077 | Atrofia Muscular Espinal | AARS,ASAH1,ATP7A,BICD2,BSCL2,CHCHD10,
DCTN1,DNAJB2,DYNC1H1,EXOSC3,EXOSC8, FBXO38,GARS,HEXA,HEXA,HSPB1,HSPB3, HSPB8,IGHMBP2,LAS1L,PLEKHG5,REEP1, SCO2,SLC5A7,SMN1,SMN2,TRPV4,UBA1, VAPB,VRK1 |
| EXN1086 | Demencia Frontotemporal | C9orf72,CHCHD10,CHMP2B,CSF1R,FTL,FUS,
GRN,MAPT,PRNP,PSEN1,SQSTM1,TARDBP, TBK1,TREM2,TREM2,TUBA4A,UBQLN2,VCP |
| EXN1008 | Esclerosis Tuberosa | TSC1,TSC2 |
| 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 |
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
| Referencia | 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