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LMNA

Exames relacionados Estratégia de Análise Gene relacionado
Neuropatia Motora Análise de Deleção/Duplicação SBF2, RAB7A, REEP1, MTMR2, SH3TC2, GJB1, GDAP1, KIF1B, HSPB1, IGHMBP2, EGR2, PRX, PMP22, NEFL, LMNA, HSPB8, GARS, MFN2, MPZ
Cardiopatias Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação ABCC9, ACTC1, ACTN2, AGL, BAG3, CACNA1C, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GLA, HCN4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CALR3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, LAMA4, LDB3, LRRC10, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX25, NPPA, PDLIM3, PLEKHM2, PRDM16, TGFB3, TMPO, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, ACADVL, ALMS1, CPT2, DNAJC19, ELAC2, MTO1, SDHA, TMEM70, ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, MAT2A, SMAD6
Síndromes Clinicamente Reconheciveis Painel por Sequenciamento de Próxima Geração ALMS1, ANKRD11, ARHGAP31, ARID1B, ARL6, ATR, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BRAF, CBL, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CREBBP, DHCR7, DOCK6, EDN3, EDNRB, ELP4, EP300, ERCC8, EYA1, EZH2, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GPC3, GPR143, HDAC8, HRAS, IRF6, JAG1, KDM6A, KIF1BP, KMT2A, KMT2D, KRAS, LMNA, LMX1B, LZTFL1, MAP2K1, MAP2K2, MID1, MITF, MKKS, MKS1, MYBPC1, MYH3, MYH8, NF1, NFIX, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PTH, PTPN11, RAD21, RAF1, RASA1, RBBP8, RECQL4, ROR2, RPS6KA3, SALL1, SDCCAG8, SHOC2, SIX5, SKI, SLC45A2, SMAD3, SMC1A, SMC3, SNAI2, SOS1, SOX10, SPECC1L, SPRED1, SRCAP, STX16, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TRIM32, TTC8, TYR, TYRP1, VIPAS39, VPS13B, VPS33B, WDPCP, WNT5A, WRN, ZEB2
Charcot Marie Tooth, Doença, Painel Completo Painel por Sequenciamento de Próxima Geração AARS, AIFM1, BSCL2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HSPB1, HSPB8, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, TRPV4, YARS
Miopatia Congenita por Desproporção do tipo de Fibra Painel por Sequenciamento de Próxima Geração ACTA1, LMNA, MYH7, RYR1, SEPN1, TPM2, TPM3
Progeria, Síndrome Painel por Sequenciamento de Próxima Geração LMNA, ZMPSTE24
Miocardiopatia Dilatada Painel por Sequenciamento de Próxima Geração ABCC9, ACTC, ACTN2, CSRP3, CTF1, DES, EMD, LDB3, LMNA, MYBPC3, MYH7, PLN, SGCD, TAZ, TCAP, TNNT2, TNNI3, TPM1, VCL
Miopatia, Painel Expandido Painel por Sequenciamento de Próxima Geração ACTA1, ANO5, ATP2A1, BAG3, BIN1, CACNA1S, CAV3, CCDC78, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FKBP14, FLNC, GNE, KBTBD13, KCNJ2, KLHL40, KLHL41, LDB3, LMNA, LMOD3, MATR3, MEGF10, MTM1, MYF6, MYH7, MYL2, MYOT, NEB, RYR1, SCN4A, SEPN1, SQSTM1, STAC3, STIM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP
Displasia Esquelética Painel por Sequenciamento de Próxima Geração ACAN, ACP5, AGPS, ALPL, ANKH, ANO5, ARHGAP31, ARSE, ATP6V0A2, B3GALT6, B4GALT7, BMP2, BMPR1B, CA2, CANT1, 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, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, GNAS, GORAB, GPC6, GREM1, HDAC4, HES7, HOXD13, HPGD, HSPG2, ICK, IFITM5, IFT122, IFT140, IFT80, IHH, KIF22, KIF7, LEMD3, LFNG, LIFR, LMBR1, LMNA, LRP4, LRP5, MAFB, MATN3, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PHEX, PIGV, PITX1, PLOD2, PPIB, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RASGRP2, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SERPINF1, SERPINH1, SH3PXD2B, SHH, SHOX, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SOX9, SP7, SULF1, TBCE, TB
Doenças Neuromusculares Painel por Sequenciamento de Próxima Geração AARS, ABCD1, AFG3L2, ANO5, APTX, ASPA, ATL1, ATM, ATP7A, CACNA1S, CAPN3, CAV3, CLCN1, CP, CYP7B1, DAG1, DES, DMD, DNAJB6, DNM2, DYSF, EGR2, EMD, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, FUS, FXN, GARS, GDAP1, GJB1, GJB3, HSPB1, HSPB8, KIF5A, L1CAM, LAMP2, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MSTN, MTM1, MTMR2, MYOT, NDRG1, NEFL, NIPA1, NOTCH3, PABPN1, PMP22, POMGNT1, POMT1, POMT2, PRPS1, PRX, PYGM, RAB7A, REEP1, SBF2, SCN4A, SCO2, SETX, SGCA, SGCB, SGCD, SGCG, SOD1, SPAST, SPG11, SPG7, TARDBP, TCAP, TRIM32, TRPV4, VAPB
Neuropatia Periférica Painel por Sequenciamento de Próxima Geração AARS, ABCD1, ARHGEF10, ARSA, ATL1, ATM, ATP7A, BICD2, BSCL2, CCT5, CTDP1, CYP27A1, CYP7B1, DCTN1, DCAF8, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GALC, GAN, GARS, GBE1, GDAP1, GJB1, GJB3, GLA, GNB4, HARS, HINT1, HINT2, HK1, HMBS, HSN2, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, IKBKAP, INF2, KARS, KIAA0196, KIF1A, KIF1B, KIF5A, L1CAM, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NIPA1, NTRK1, PDK3, PHYH, PLEKHG5, PLP1, PMP22, PRPS1, PRX, RAB7A, REEP1, RTN2, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC16A2, SLC5A7, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPTLC1, SPTLC2, SPTLC3, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, WNK1, XPC, YARS, ZFYVE26, ZFYVE27
Miopatia Miofibrilar Painel por Sequenciamento de Próxima Geração ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, LMNA, MYOT
Neuropatia, Atrofia Muscular Motor/Proximal/Espinhal Painel por Sequenciamento de Próxima Geração ASAH1, ASCC1, BICD2, CHCHD10, CLP1, DYNC1H1, EXOSC3, EXOSC8, GAA, HEXA, HMBS, IGHMBP2, LAS1L, LMNA, MFN2, PLEKHG5, SETX, SLC52A2, SLC52A3, SMN1, TFG, TRIP4, TRPV4, UBA1, VAPB
Distrofia Muscular Congênita Painel por Sequenciamento de Próxima Geração B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DNM2, FHL1, FKBP14, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE1, LMNA, PIEZO2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SEPN1, TCAP, TMEM5, TNXB
Miopatias e Distrofias Musculares Painel por Sequenciamento de Próxima Geração ABHD5, ACADS, ACAD9, ACADM, ACADVL, AGL, ABCC9, ABCA4, AMACR, AMPD1, ANO5, ACTC1, ACTA1, ACTN2, ANKRD1, AV3, AKT2, AGPAT2, BSCL2, BAG3, BIN1, B3GALNT2, B4GAT1, BEST1, CACNA1A, CACNB2, CALR3, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, COL12A1, CRYAB, CSRP3, CCDC78, CPT1A, CFL2, CNTN1, CNGA3, CNGB3, CPT2, C1QTNF5, CAV1, CDH3, DAG1, DES, DSP, DSG2, DOLK, DSC2, DMD, DMPK, DNM2, DNAJB6, DNAJC19, DYSF, EMD, EYA4, ETFA, ETFB, ETFDH, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, FDX2, FHL1, FHL2, FKRP, FKTN, FLNC, FSCN2, GAA, GLA, GATA4, GATAD1, GNAT2, GMPPB, GNE, GYS1, GPD1L, HCN4, HNRNPDL, HADH, HADHA, HADHB, ISPD, ILK, ISCU, JPH2, JUP, KCNE3, KBTBD13, KLHL40, KLHL41, LARGE, LAMA2, LAMA4, LAMP2, LDB3, LPIN1, LIMS2, LMNA, LMOD3, LMNB1, MAMLD1, MYOT, MURC, MYBPC3, MTM1, MTMR14, MYF6, MYH6, MYH7, MYL2, MYL3, MYLK2, MYPN, NEB, NEBL, NEXN, PFKM, PDLIM3, PDE6C, PLN, PLP1, PPARG, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POLR3A, POLR3B, PRKAG2, PKP2, PGAM2, PGM1, PGK1, PNPLA2, PHKA1, POLG, POLG2, PY
Miocardiopatia Dilatada, Distrofia Muscular Emery-Dreifuss e de Cinturas tipo 1b, Charcot-Marie-Tooth 2, Lipodistrofia Familiar Parcial Dunnigan, Werner Atipica, Displasia Mandibuloacral, Progeria Sequenciamento Completo do Gene LMNA
Distrofia Muscular de Cinturas tipo 1b Sequenciamento Completo do Gene + Análise de Deleção/Duplicação LMNA
Distrofia Muscular de Cinturas, Painel Expandido Painel por Sequenciamento de Próxima Geração ANO5, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, GMPPB, ISPD, LIMS2, LMNA, MYOT, PNPLA2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TNPO3, TORAI1P1, TRAPPC11, TRIM32, TTN
Lipodistrofia Congenita Painel por Sequenciamento de Próxima Geração AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, PTRF, TBC1D4, ZMPSTE24
Hipotonia Muscular, Início Adulto Painel por Sequenciamento de Próxima Geração ABHD5, ACADM, ACADVL, ACTA1, ADSSL1, AGL, ANO5, BAG3, BICD2, BVES, CAPN3, CASQ1, CAV3, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DYNC1H1, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HNRNPU, ISCU, ISPD, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LPIN1, MATR3, MTM1, MYH2, MYH7, MYO9A, MYOT, NEB, ORAI1, PLEC, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A1, SLC5A7, SQSTM1, STIM1, SYT2, TCAP, TIA1, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRPV4, TTN, VCP, VMA21
Neuropatia, Painel Expandido Painel por Sequenciamento de Próxima Geração AAAS, AARS, ABCA1, ABHD12, ACTA1, ADAR, AGRN, AIFM1, ALG14, ALG2, ALS2, AMACR, ANG, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C12ORF65, CAPN3, CASQ1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CLP1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX10, COX6A1, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB5, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, EPG5, EXOSC3, EXOSC8, FAM126A, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GMPPB, GNB4, GSN, GYG1, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF5A, KLHL13, KLHL40, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LIMS2, LITAF, LMNA, LMOD3, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICAL1, MICU1, MORC2
Miopatia Distal Painel por Sequenciamento de Próxima Geração ADSSL1, AGL, AGRN, ANO5, BAG3, BICD2, CAPN3, CAV3, CCDC78, CHRNA1, CHRNB1, CHRND, CHRNE, CRYAB, DES, DNAJB6, DYSF, FHL1, FLNC, GNE, HNRNPA1, HNRNPA2B1, LDB3, LMNA, MATR3, MYH14, MYH7, MYOT, PLEC, PNPLA2, SLC5A7, SQSTM1, TCAP, TIA1, TTN, VCP
Dunnigan, Síndrome Painel por Sequenciamento de Próxima Geração AKT2, LMNA, PPARG
Distrofia Muscular, Painel Expandido Painel por Sequenciamento de Próxima Geração ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMDFHL1, FKRP, FKTN, GAA, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SUN1, SUN2, SYNE1, SYNE2, TCAP, TMEM5, TNPO3, TRAPPC11, TRIM32, TTN, TMEM43, TOR1AIP1
Distrofia Muscular de Emery Dreifuss Sequenciamento Completo do Gene LMNA
Miotonia Congenita Painel por Sequenciamento de Próxima Geração + Análise de Mutação + Análise de Expansão ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, UBA1, VRK1
Distrofia Muscular, Autossômica Dominante Painel por Sequenciamento de Próxima Geração CAV3, DES, DNAJB6, HNRNPDL, LMNA, MYOT, SMCHD1, TNPO3, TTN, VCP
Distrofia Muscular de Emery-Dreifuss Painel por Sequenciamento de Próxima Geração EMD, LMNA
Distrofia Muscular de Cinturas, Painel Reduzido Painel por Sequenciamento de Próxima Geração CAV3, DES, DNAJB6, LMNA, MYOT, SMCHD1, TNPO3
Displasia Arritmogenica do Ventriculo Direito Painel por Sequenciamento de Próxima Geração ACTN2, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LMNA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TMEM43, TNNI3, TNNT2, TTN
Charcot-Marie-Tooth, Doença Axonal Painel por Sequenciamento de Próxima Geração DNM2, GARS, GDAP1, GJB1, HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A, TRPV4, YARS
Doença Muscular com Contraturas e/ou Espinha Rígida Painel por Sequenciamento de Próxima Geração ACTA1, CAPN3, CFL2, COL6A1, COL6A2, COL6A3, DNM2, EMD, FHL1, GAA, KBTBD13, KLHL40, LAMA2, LMNA, NEB, PIEZO2, RAPSN, RYR1, SEPN1, SYNE1, SYNE2, TMEM43, TNNT1, TOR1AIP1, TPM2, TPM3
Cardiomiopatia no Contexto da Doença Neuromuscular Painel por Sequenciamento de Próxima Geração ACTA1, AGL, BAG3, CAV3, CHKB, CRYAB, DES, DMD, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GNE, LAMP2, LARGE1, LDB3, LMNA, MTO1, MYH7, MYOT, PLEC, PNPLA2, POMGNT1, POMT1, POMT2, SCO2, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SYNE1, SYNE2, TAZ, TCAP, TMEM43, TTN, VCP
Cardiomiopatia Hipertrófica Familiar Painel por Sequenciamento de Próxima Geração ABCC9, ACTC1, ACTN2, ALMS1, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, MTO1, MYBPC3, MYH7, MYL2, MYL3, NKX25, PKP2, PLN, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, AKAP9, ANKRD1, CACNA2D1, CALR3, CTF1, CTNNA3, DTNA, FHL2, GATA4, GATA6, GATAD1, ILK, JPH2, KCND3, KCNE3, KCNE5, KCNJ5, KCNJ8, LAMA4, LDB3, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PRDM16, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TMPO, TRPM4, TXNRD2, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RASA1, RIT1, SHOC2, SOS1, SPRED1
Charcot-Marie-Tooth, Doença Painel por Sequenciamento de Próxima Geração MFN2, KIF1B, RAB7A, LMNA, MED25, TRPV4, GARS, NEFL, HSPB1, HSP27, GDAP1, MPZ, HSPB8, DNM2, AARS, DYNC1H1, LRSAM1, DHTKD1, TRIM2, IGHMBP2, DNAJB2, MARS, NAGLU, HARS, MME, YARS
Aicardi-Goutieres, Síndrome Painel por Sequenciamento de Próxima Geração AARS, AIFM1, BSCL2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HSPB1, HSPB8, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, TRPV4, YARS
Subscrever LMNA