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Enfermedades neurológicas y neuromusculares

AGENESIA/DISGENESIA DEL CUERPO CALLOSO: 128 genes – Plazos de entrega: 3-4 semanas

AHI1, AKT3, AMPD2, ANOS1, ARID1A, ARID1B, ARL13B, ARX, ASPM, ATR, ATRX, B3GLCT, B9D1, B9D2, BCOR, BDNF, BMP4, C12orf57, CASK, CC2D2A, CDK5RAP2, CENPJ, CEP152, CEP290, CEP41, CEP63, CREBBP, DCX, DHCR24, DHCR7, DIS3L2, DISC1, DYNC1H1, EFNB1, ELP4, EOMES, EP300, EPG5, FGF8, FGFR1, FGFR2, FH, FKRP, FKTN, FLNA, FOXG1, GCSH, GLDC, GLI3, GNRH1, GNRHR, GPSM2, HCCS, HESX1, HS6ST1, HYLS1, IGBP1, IGF1, INPP5E, ISPD, KAT6B, KIF7, KISS1, KISS1R, L1CAM, LARGE1, LRP2, MED12, MID1, MKS1, MRPS16, NDE1, NFIA, NFIX, NIN, NPHP1, NPHP3, NSD1, NSMF, OFD1, OPHN1, OTX2, PAX6, PDHA1, PDHB, POMGNT1, POMGNT2, POMT1, POMT2, PTCH1, PYCR1, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, RBM10, RELN, RPGRIP1L, SEMA3A, SLC12A6, SLC1A2, SLC6A5, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX2, SPG11, STRA6, TAC3, TACR3, TCF4, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM237, TMEM67, TUBA1A, TUBB1, TUBB2B, TUBB3, UPF3B, VAX1, WDR11, WDR62, ZEB2

ALZHEIMER Y DEMENCIA: 68 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCA7, ABCD1, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, C19orf12, C9orf72, CHCHD10, CHMP2B, CLN3, CLN6, CSF1R, CST3, CTSF, CYP27A1, DCTN1, DNAJC5, DNMT1, EIF4G1, EPM2A, ERCC4, FUS, GBA, GRN, HEXA, HNRNPA1, HNRNPA2B1, HTRA1, ITM2B, LRRK2, MAPT, MATR3, MMACHC, NHLRC1, NOTCH3, NPC1, NPC2, OPTN, PINK1, PLA2G6, PRNP, PSEN1, PSEN2, RNF216, SERPINI1, SIGMAR1, SNCA, SNCB, SORL1, SPG21, SQSTM1, TARDBP, TBK1, TIMM8A, TREM2, TREX1, TTR, TUBA4A, TWNK, TYROBP, UBE3A, UBQLN2, VCP, WDR45

AMILOIDOSIS HEREDITARIA: 34 genes – Plazos de entrega: 3-4 semanas

APOA1, APOA2, APOE, APP, ASXL1, B2M, CCND1, COL7A1, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, KIT, LIG4, LYZ, MEFV, MMP1, NLRP1, NLRP3, OSMR, POLA1, PRNP, PSEN2, RET, SAA1, SLC7A7, TACSTD2, TET2, TGFBI, TNFRSF1A, TTR

ARTROGRIPOSIS: 245 genes – Plazos de entrega: 3-4 semanas

ABHD5, ACADM, ACADS, ACADVL, ACTA1, ADAMTS10, ADCY6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ANTXR2, ASXL1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1E, CAPN3, CASK, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CLCF1, CNTN1, CNTNAP1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRLF1, CRYAB, CTDP1, CUL4B, DAG1, DES, DHCR24, DMD, DMPK, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM111B, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR2, GAA, GARS, GBA, GBE1, GDAP1, GFER, GFPT1, GLE1, GMPPB, GNE, GRN, HADH, HADHA, HADHB, HNRNPA1, HRAS, HSPG2, IBA57, IGHMBP2, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LAMP2, LARGE1, LDB3, LGI4, LMNA, LMOD3, LPIN1, MATR3, MEGF10, MFN2, MICU1, MPZ, MTM1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYOT, NALCN, NEB, NEFL, ORAI1, PABPN1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD1, PLOD2, PMM2, PNPLA2, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPP3CA, PRG4, PUS1, PYGM, RAPSN, RARS2, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC22A5, SLC25A4, SLC35A3, SLC52A3, SLC5A7, SMAD3, SMAD4, SMCHD1, SMN1, SMN2, SNAP29, STAC3, STIM1, STIM2, SYNE1, SYNE2, SYT2, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TSEN2, TSEN34, TSEN54, TTN, UBA1, UTRN, VCP, VIPAS39, VPS33B, VRK1, YARS2, ZBTB42, ZC4H2, ZMPSTE24

ATAXIA EPISÓDICA: 6 genes – Plazos de entrega: 3-4 semanas

ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3

ATAXIA ESPÁSTICA: 7 genes – Plazos de entrega: 3-4 semanas

AFG3L2, KIF1C, MARS2, MTPAP, SACS, SPG7, VAMP1

ATAXIA ESPINOCEREBELOSA & DESÓRDENES RELACIONADOS: 93 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCB7, ABCD1, AFG3L2, ANO10, APTX, ATCAY, ATM, ATN1, ATP1A3, ATP2B3, ATXN10, BEAN1, C9orf72, CA8, CACNA1A, CACNA1G, CAMTA1, CCDC88C, CLN5, COQ8A, CWF19L1, CYP27A1, CYP7B1, DAB1, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, FXN, GBA2, GNB4, GRID2, GRM1, HEXA, HEXB, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KIF5A, MME, NOP56, NOTCH3, PDYN, PEX10, PEX7, PLD3, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, PPP2R2B, PRKCG, PRNP, RRM2B, RUBCN, SACS, SETX, SIL1, SLC20A2, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG11, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VWA3B, WDR73, WWOX, ZFYVE26, ZNF592

ATAXIAS HEREDITARIAS GLOBAL: 373 genes – Plazos de entrega: 3-4 semanas

AAAS, AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ABHD5, ACO2, ADGRG1, AFG3L2, AGTPBP1, AHDC1, AHI1, ALDH5A1, ALG6, ALS2, ANO10, AP5Z1, APTX, ARL13B, ARL3, ARL6, ARSA, ASAH1, ASS1, ATAD3A, ATCAY, ATL1, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP7A, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, B4GALNT1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BEAN1, BRAT1, BSCL2, C12orf4, C12orf65, C19orf12, C9orf72, CA8, CACNA1A, CACNA1C, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP120, CEP290, CEP41, CHCHD10, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNTNAP2, COASY, COG5, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, CP, CPLANE1, CSF1R, CSPP1, CSTB, CTDP1, CTSA, CTSC, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS2, DBT, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DPM1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ERCC4, ETHE1, EXOSC3, FA2H, FASTKD2, FAT2, FBXL4, FGF14, FLVCR1, FMR1, FOLR1, FTL, FXN, GALC, GAN, GBA2, GFAP, GJC2, GLB1, GLDC, GLRX5, GNB4, GOSR2, GPT2, GRID2, GRM1, GRN, GSS, HARS2, HEPACAM, HEXA, HEXB, HIBCH, HSD17B4, HTRA1, IFRD1, IFT140, INPP5E, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCTD7, KIF1A, KIF1C, KIF5A, KIF7, KRT6B, L2HGDH, LAMA1, LARS2, LMNB1, LMNB2, LRP4, LRPPRC, LRSAM1, LYST, MARS2, MECP2, MED13L, MFSD8, MGME1, MKKS, MKS1, MLC1, MMADHC, MME, MPV17, MPZ, MRE11, MTFMT, MTPAP, MTTP, NADK2, NAGLU, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NOL3, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, OTC, PANK2, PAX6, PC, PCNA, PDE6D, PDHA1, PDHX, PDSS1, PDSS2, PDYN, PET100, PEX10, PEX16, PEX2, PEX3, PEX6, PEX7, PGK1, PHYH, PIBF1, PIK3R5, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PNKD, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, PPP2R2B, PPT1, PRKCG, PRNP, PRPS1, PRRT2, PSAP, PSEN1, PTF1A, PTRH2, PTS, RFC1, RNF170, RNF216, RORA, RPGRIP1L, RPL10, RRM2B, RUBCN, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SERAC1, SETX, SH3TC2, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC52A2, SLC52A3, SLC6A1, SLC6A19, SLC9A1, SLC9A6, SNAP25, SNX14, SOX10, SPAST, SPG11, SPG7, SPR, SPTBN2, SQSTM1, STUB1, STXBP1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYT14, TACO1, TBC1D24, TBCE, TBP, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPK1, TPP1, TRAPPC11, TRIM32, TRPC3, TSFM, TTBK2, TTC19, TTC8, TTPA, TTR, TUBB4A, TWNK, TXN2, TYMP, UBE3A, UBTF, UCHL1, VAMP1, VARS2, VLDLR, VWA3B, WASHC5, WDPCP, WDR73, WDR81, WFS1, WWOX, XRCC1, ZFYVE26, ZMYND11, ZNF423, ZNF592

ATROFIA MUSCULAR ESPINAL SMN-NEGATIVO: 46 genes – Plazos de entrega: 3-4 semanas

AARS, AGTPBP1, AR, ASAH1, ASCC1, ATP7A, BICD2, BRF1, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, GSN, HARS, HEXA, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, LYST, MFN2, PLEKHG5, REEP1, ROBO3, SCO2, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TBCE, TFG, TRPV4, UBA1, VAPB, VRK1

BAFOPATÍAS: 35 genes – Plazos de entrega: 3-4 semanas

ACTB, ADNP, AFF4, ANKRD11, ARID1A, ARID1B, ARID2, ASXL1, BCL11A, BCL7A, GLI3, HDAC8, NIPBL, PACS1, PAX6, PBRM1, PHF6, RAD21, RAI1, SMARCA1, SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCE1, SMC1A, SMC3, SOX11, SOX4, SS18, SS18L1, TAF1, TAF6, TBC1D24

CALCINOSIS BILATERAL ESTRIATO-PÁLIDO-DENTADA/ ENFERMEDAD DE FAHR: 11 genes – Plazos de entrega: 3-4 semanas

ADAR, CA2, IFIH1, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREX1

CANALOPATÍAS DEL SISTEMA NERVIOSO: 49 genes – Plazos de entrega: 3-4 semanas

ATP1A2, BEST1, CACNA1A, CACNA1F, CACNA1H, CACNA1S, CACNB4, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CLCN1, CLCN2, CNGA1, CNGA3, CNGB1, CNGB3, GABRA1, GABRA6, GABRB3, GABRD, GABRG2, GLRA1, GLRB, KCNA1, KCNC3, KCNJ10, KCNJ2, KCNMA1, KCNQ2, KCNQ3, KCNQ4, KCNT1, MCOLN1, RYR1, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SLC1A3, TRPA1, TRPM1, TRPV4

CANALOPATÍAS NEUROMUSCULARES: 47 genes – Plazos de entrega: 3-4 semanas

AGRN, ARHGEF9, ARX, ATP2A1, CACNA1A, CACNA1D, CACNA1S, CDKL5, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CLCN1, COL6A3, DMPK, GAA, GABRA1, GABRD, GABRG2, GBE1, GLRA1, KCNJ2, KCNQ2, KCNT1, PCDH19, PIGA, PLCB1, PNKP, RYR1, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SLC25A22, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, TBC1D24

CHARCOT-MARIE-TOOTH: 151 genes – Plazos de entrega: 3-4 semanas

AARS, ABCD1, ABHD12, AGTPBP1, AIFM1, AMACR, ARHGEF10, ARSA, ATAD3A, ATL1, ATL3, ATM, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12orf65, CCT5, CHCHD10, CNTNAP1, COX10, COX6A1, CTDP1, CYP27A1, CYP7B1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FBLN5, FBXO38, FGD4, FIG4, FXN, GALC, GAN, GARS, GBE1, GDAP1, GJB1, GJB3, GLA, GNB4, GNE, GSN, HADHA, HADHB, HARS, HINT1, HK1, HMBS, HOXD10, HSD17B4, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, L1CAM, LDB3, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MPV17, MPZ, MTMR2, MYH14, MYOT, NAGLU, NDRG1, NEFH, NEFL, NGF, NIPA1, NTRK1, OPA1, PDK3, PHYH, PLEKHG5, PLP1, PMP22, PNKP, POLG, POLG2, PRPS1, PRX, RAB7A, REEP1, RETREG1, RTN2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC16A2, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMAD3, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTLC1, SPTLC2, SURF1, TDP1, TFG, TRIM2, TRPA1, TRPV4, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VRK1, WNK1, XPC, YARS, ZFYVE26, ZFYVE27

COREA HEREDITARIA: 26 genes – Plazos de entrega: 3-4 semanas

ADCY5, ATM, ATP7B, C19orf12, CP, DCAF17, FRRS1L, FTL, GM2A, GNAO1, HPRT1, KCNA1, NKX2-1, NUP62, OPA3, PANK2, PDE10A, PDE8B, PDGFRB, PLA2G6, PRNP, RNF216, SLC20A2, SLC2A1, VPS13A, XK

COREOATETOSIS: 6 genes – Plazos de entrega: 3-4 semanas

ADCY5, HSD17B10, MR1, NKX2-1, PRRT2, SLC2A1

DEFECTOS DEL TUBO NEURAL: 84 genes – Plazos de entrega: 3-4 semanas

ACTB, ALDH1A2, AMER1, B9D1, B9D2, BMP2, BMPER, CAT, CC2D2A, CCBE1, CCL2, CDON, CELSR1, CELSR2, CEP290, CTH, DISP1, DLL3, ERCC2, FAT4, FOXH1, FRAS1, FREM2, FUZ, FZD1, FZD6, GATA3, GDF3, GDF6, GLDC, GLI2, GRHL3, GRIP1, HES7, HYLS1, KCNJ10, KIF14, LFNG, MAT1A, MEOX1, MESP2, MKS1, MMACHC, MNX1, MTHFD1, MTHFR, MTR, MTRR, MYO1E, NID1, NKX2-2, NODAL, NOS2, NPHP3, OLIG2, PAX3, PDGFRA, PIK3CA, PORCN, PTCH1, PTK7, RPGRIP1L, SALL1, SCRIB, SHH, SHROOM3, SNRPB, TBX6, TBXT, TCN2, TCTN2, TGIF1, TMEM216, TMEM231, TMEM67, TP53, TXN2, VANGL1, VANGL2, WNT3, WNT4, WNT5A, WNT7A, ZIC2

DEFICIENCIA DE COENZIMA Q10: 16 genes – Plazos de entrega: 3-4 semanas

ANO10, APTX, BRAF, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, ETFA, ETFB, ETFDH, MVK, PDSS1, PDSS2

DEMENCIA FRONTOTEMPORAL: 20 genes – Plazos de entrega: 3-4 semanas

ANXA11, CHCHD10, CHMP2B, DCTN1, FUS, GRN, HEXA, HNRNPA2B1, ITM2B, KIF5A, MAPT, PRNP, SQSTM1, SNCA, TARDBP, TBK1, TFG, TREM2, UBQLN2, VCP

DEMENCIA Y ALZHEIMER: 68 genes – Plazos de entrega: 3-4 semanas

AARS2, ABCA7, ABCD1, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, C19orf12, C9orf72, CHCHD10, CHMP2B, CLN3, CLN6, CSF1R, CST3, CTSF, CYP27A1, DCTN1, DNAJC5, DNMT1, EIF4G1, EPM2A, ERCC4, FUS, GBA, GRN, HEXA, HNRNPA1, HNRNPA2B1, HTRA1, ITM2B, LRRK2, MAPT, MATR3, MMACHC, NHLRC1, NOTCH3, NPC1, NPC2, OPTN, PINK1, PLA2G6, PRNP, PSEN1, PSEN2, RNF216, SERPINI1, SIGMAR1, SNCA, SNCB, SORL1, SPG21, SQSTM1, TARDBP, TBK1, TIMM8A, TREM2, TREX1, TTR, TUBA4A, TWNK, TYROBP, UBE3A, UBQLN2, VCP, WDR45

DESÓRDENES DEL MOVIMIENTO: 418 genes – Plazos de entrega: 3-4 semanas

AAAS, AARS, AARS2, ABAT, ABCB7, ABCD1, ABHD12, ACO2, ADAR, ADCY5, AFG3L2, AGTPBP1, AHI1, AIMP1, ALDH5A1, ALDH7A1, ALG6, ALG8, ALS2, AMACR, AMPD2, AMT, ANO10, AP1S2, APTX, ARHGEF9, ARL13B, ARL3, ARL6, ARSA, ARX, ATCAY, ATL1, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, ATR, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BEAN1, BSCL2, C19orf12, C9orf72, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CAV1, CC2D2A, CCDC88C, CEP290, CEP41, CHCHD10, CHMP1A, CHMP2B, CLCN2, CLN3, CLN5, CLN6, CLN8, COASY, COG8, COQ2, COQ5, COQ6, COQ8A, COQ9, COX20, CP, CSF1R, CSPP1, CSTB, CTC1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS2, DBT, DCAF17, DCTN1, DDC, DDX3X, DLAT, DLD, DNAJC19, DNAJC5, DNM1, DNMT1, DRD2, DRD5, EARS2, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ELP2, EPM2A, ERCC4, ERCC6, EXOSC3, EXOSC8, FA2H, FAM126A, FASTKD2, FBXO7, FGF14, FLVCR1, FMR1, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUS, FXN, GALC, GAMT, GAN, GBA, GBA2, GCDH, GCH1, GFAP, GJC2, GLB1, GLDC, GLRA1, GLRB, GM2A, GNAO1, GOSR2, GRID2, GRM1, GRN, GSS, HARS2, HEPACAM, HEXA, HEXB, HIBCH, HPRT1, HSD17B4, IFRD1, INPP5E, ITM2B, ITPR1, KCNA1, KCNA2, KCNB1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KCTD7, KIF1A, KIF1C, KIF5A, KIF7, L2HGDH, LAMA1, LMNB1, LRPPRC, LRRK2, LYST, MAN2B1, MAPT, MARS2, MAT1A, MCOLN1, MECP2, MFSD8, MGME1, MKKS, MKS1, MLC1, MMACHC, MMADHC, MME, MPV17, MR1, MRE11, MTFMT, MTPAP, MTTP, MVK, MYBPC1, NBEA, NDUFA10, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFU1, NGLY1, NHLRC1, NKX2-1, NOL3, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NUBPL, NUP62, OFD1, OPA1, OPA3, OPHN1, PANK2, PARK7, PAX6, PC, PCCA, PCCB, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX6, PEX7, PGAP1, PHYH, PIK3R5, PINK1, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PNKD, PNKP, PNPLA6, PNPO, PNPT1, POLG, POLR1C, POLR3A, POLR3B, PPP2R2B, PPT1, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PRX, PSEN1, PTEN, PTF1A, PTRH2, PTS, QDPR, RARS2, RNASEH2A, RNASEH2B, RNASEH2C, RNF170, RNF216, RPGRIP1L, RRM2B, RUBCN, SACS, SAMHD1, SCARB2, SCN2A, SCN8A, SCP2, SDHA, SDHAF1, SEPSECS, SERAC1, SETX, SGCE, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC46A1, SLC52A2, SLC52A3, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC9A1, SLC9A6, SMPD1, SNCA, SNX14, SOD1, SPAST, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUCLA2, SUFU, SUOX, SURF1, SYNE1, SYT14, TAF1, TARDBP, TBP, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TH, THAP1, TIMM8A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TNR, TOR1A, TPK1, TPP1, TREM2, TREX1, TRIM32, TRNT1, TRPC3, TSEN15, TSEN2, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTPA, TUBB2A, TUBB4A, TWNK, TXN2, TYMP, UBE3A, UBTF, UQCRQ, VAMP1, VAPB, VARS2, VLDLR, VPS13A, VPS35, VRK1, VWA3B, WASHC5, WDPCP, WDR45, WDR73, WDR81, WFS1, WWOX, XK, XRCC1, ZFYVE26, ZNF423, ZNF592

DISCAPACIDAD INTELECTUAL GLOBAL: 1164 genes – Plazos de entrega: 3-4 semanas

AAAS, AASS, ABAT, ABCA7, ABCD1, ABHD5, ACADS, ACAT1, ACE, ACHE, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTN4, ACY1, ADA, ADAMTSL2, ADAR, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFF4, AGA, AGTR2, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG9, ALX3, ALX4, AMER1, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, ANTXR1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, APTX, AR, ARFGEF2, ARG1, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARNT2, ARSE, ARX, ASAH1, ASCL1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASTN2, ASXL1, ASXL3, ATIC, ATL1, ATP10A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUH, AUTS2, AVPR1A, AVPR2, B3GALNT2, B3GLCT, B4GALT1, B4GAT1, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCORL1, BCS1L, BDNF, BIN1, BLM, BLOC1S3, BLOC1S6, BMPER, BRAF, BRCA2, BRF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C12orf4, C12orf57, C12orf65, C19orf12, C2CD3, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNB2, CACNG2, CAMK2G, CAMTA1, CANT1, CARD11, CASK, CBL, CBS, CC2D1A, CC2D2A, CCDC22, CCDC28B, CCDC40, CCDC78, CCDC88C, CDC42, CDH15, CDK16, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP63, CERS1, CHAMP1, CHD1, CHD2, CHD3, CHD7, CHD8, CHKB, CHL1, CHMP1A, CHRNA4, CIB2, CIC, CLCN4, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNGB3, CNKSR2, CNNM2, CNTN4, CNTNAP2, CNTNAP5, COASY, COG1, COG5, COG6, COG7, COG8, COL4A1, COL4A3BP, COQ2, COX10, COX14, COX15, COX20, COX6B1, COX7B, CP, CPA6, CPLANE1, CPS1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CSMD1, CSPP1, CTC1, CTCF, CTDP1, CTNNA3, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL3, CUL4B, CUL7, CUX1, CUX2, CWF19L1, CX3CR1, CYB5R3, CYP11B1, CYP27A1, D2HGDH, DAG1, DARS2, DBT, DCAF17, DCHS1, DCX, DDC, DDHD2, DDX11, DDX3X, DDX59, DEAF1, DHCR24, DHCR7, DIP2B, DKC1, DLAT, DLG3, DLG4, DLGAP2, DLX3, DMD, DMPK, DMXL2, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK4, DOCK8, DPAGT1, DPM1, DPP10, DPP6, DPYD, DPYS, DRD3, DST, DTNBP1, DYM, DYNC1H1, DYRK1A, EBP, EDN3, EDNRB, EEF1A2, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, ELK1, ELOVL4, ELP2, EMX2, EP300, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ESCO2, ETFB, ETHE1, EXOC6B, EXOSC3, EXT1, EZH2, FAAH2, FAM126A, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCG, FAR1, FASTKD2, FAT4, FBN1, FBXL4, FBXO11, FBXO31, FGA, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR1, FMN2, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FOXRED1, FRAS1, FRMPD4, FTL, FTO, FTSJ1, FUCA1, G6PC3, G6PD, GABBR2, GABRA1, GABRA5, GABRB3, GABRG2, GAD1, GALC, GALE, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GBE1, GCH1, GCK, GCSH, GDI1, GDNF, GFAP, GFM1, GHR, GIGYF2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPHN, GPT2, GPX1, GRIA1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSPT2, GSS, GTF2H5, GUSB, HACE1, HAX1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC6, HDAC8, HEPACAM, HERC1, HERC2, HEXA, HEXB, HIVEP2, HLCS, HMGB3, HNMT, HNRNPU, HOXA1, HPD, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD11B1, HSD17B10, HSPD1, HUWE1, HYDIN, IDS, IDUA, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IKBKG, IL1RAPL1, IMMP2L, INPP5E, INSR, INVS, IQSEC2, IRX5, ISPD, ITGA7, ITGB3, ITPR1, JAG1, KANK1, KANSL1, KAT6A, KAT6B, KATNAL2, KATNB1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCTD13, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KDM6B, KIF11, KIF14, KIF1A, KIF1BP, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KLF8, KLHL15, KMT2A, KMT2C, KMT2D, KMT5B, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LARS, LAS1L, LEP, LHX3, LIAS, LIG4, LINS1, LMAN2L, LMBRD1, LMX1B, LONP1, LRBA, LRP1, LRP2, LRPPRC, LYRM7, LYST, LZTR1, MACF1, MAF, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAOB, MAP2K1, MAP2K2, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM4, MCM6, MCOLN1, MCPH1, MECP2, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEIS2, METTL23, MFRP, MFSD2A, MFSD8, MGAT2, MIB1, MID1, MID2, MITF, MKKS, MKS1, MLC1, MLYCD, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPV17, MRAP, MRPS22, MSMO1, MSR1, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTR, MTRR, MYCN, MYO1E, MYO5A, MYO9B, MYT1L, NAA10, NAA15, NAGA, NAGLU, NALCN, NBEA, NBN, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA12, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECTIN1, NEDD4L, NEGR1, NEU1, NEXMIF, NF1, NFIA, NFIB, NFIX, NGF, NGLY1, NHEJ1, NHP2, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NOP10, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR2F1, NR3C2, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSMCE3, NSUN2, NTNG1, NTRK1, NUP62, NXF5, OCLN, OCRL, OFD1, OGT, OPHN1, ORC1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PAX1, PAX3, PAX6, PBX1, PC, PCDH15, PCDH19, PCDH9, PCGF2, PCNT, PDCD1, PDE4D, PDE6D, PDHA1, PDHX, PDP1, PDSS1, PEPD, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIK3R2, PIP5K1B, PITX1, PITX2, PLA2G6, PLCB1, PLK1, PLK4, PLN, PLP1, PMM2, PNKP, PNP, PNPLA6, POGZ, POLA1, POLG, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON3, PORCN, POT1, POU1F1, PPM1D, PPOX, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKAR1A, PRKCA, PRKN, PRMT7, PRODH, PRPS1, PRSS12, PSAP, PSPH, PTCH1, PTCHD1, PTEN, PTPN11, PTPRC, PTRH2, PTS, PUF60, PURA, PUS1, PXDN, PYCR1, PYCR2, PYGL, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAF1, RAI1, RANBP2, RAP1GDS1, RAPSN, RARS2, RBBP8, RBFOX1, RBM10, RBM28, RECQL4, RELN, RERE, REST, RET, RFT1, RIMS1, RIT1, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF168, ROBO2, ROGDI, ROR2, RORA, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTTN, RUBCN, RXYLT1, SACS, SALL1, SAMHD1, SASH1, SASS6, SATB2, SBF1, SC5D, SCAPER, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEMA3E, SEPSECS, SERAC1, SETBP1, SETD2, SETD5, SF3B1, SGCA, SGSH, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC16A2, SLC17A5, SLC1A1, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC27A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC46A1, SLC4A10, SLC4A4, SLC5A5, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMG6, SMOC1, SMPD1, SMS, SNAI2, SNAP25, SNAP29, SNIP1, SNRPN, SOBP, SOD1, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX5, SPAST, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SRCAP, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, ST7, STAG1, STAMBP, STAT5B, STIL, STK3, STRA6, STT3A, STT3B, STX11, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYN2, SYNE1, SYNGAP1, SYNJ1, SYP, SYT14, TACO1, TAF1, TAF2, TAF6, TANC2, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D7, TBCE, TBL1XR1, TBR1, TBX1, TBX3, TCF4, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TECR, TECTA, TET2, TFAP2A, TGFBR2, TGIF1, TH, THOC2, THOC6, THRA, THRB, TIMM8A, TINF2, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMLHE, TMTC3, TPH2, TPK1, TPO, TPP1, TRAF7, TRAPPC9, TREX1, TRHR, TRIM32, TRIO, TRIP12, TRMT10A, TRPC6, TRPM1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC21B, TTC37, TTC8, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUSC3, TWIST1, TWNK, TYR, UBE2A, UBE3A, UBE3B, UBR1, UNC80, UPB1, UPF3B, UQCRQ, UROC1, USH2A, USP27X, USP9X, USP9Y, VCX3A, VDR, VLDLR, VPS13B, VPS37A, VPS53, VRK1, WAC, WASHC4, WDFY3, WDR13, WDR19, WDR45, WDR45B, WDR62, WDR73, WDR81, WNT1, WNT5A, WWOX, XPA, XPNPEP3, XYLT1, YAP1, YWHAE, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMYM3, ZMYND11, ZNF292, ZNF335, ZNF41, ZNF423, ZNF507, ZNF526, ZNF592, ZNF674, ZNF711, ZNF804A, ZNF81, ZNHIT6, ZSWIM6

DISCAPACIDAD INTELECTUAL LIGADA AL CROMOSOMA X: 143 genes – Plazos de entrega: 3-4 semanas

ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AP1S2, AR, ARHGEF6, ARHGEF9, ARSE, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BCORL1, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, DMD, EBP, EIF2S3, ELK1, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GDI1, GK, GPC3, GPC4, GRIA3, GSPT2, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MID2, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC35A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TANC2, THOC2, TIMM8A, TMLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WAC, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81

DISPLASIA SEPTO-OPTICA: 24 genes – Plazos de entrega: 3-4 semanas

ARNT2, CDON, DHCR7, DISP1, FGF8, FGFR1, GAS1, GLI2, HESX1, HK1, LHX3, LHX4, OTX2, PAX6, PROKR2, PROP1, PTCH1, SHH, SIX3, SOX2, SOX3, SUFU, TGIF1, ZIC2

DISTONÍAS: 119 genes – Plazos de entrega: 3-4 semanas

AARS2, ACAT1, ACTB, ADAR, ADCY5, AFG3L2, ANO3, AP1S2, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, B4GALNT1, BCAP31, C19orf12, CACNA1A, CACNA1B, CACNA1G, CAMK4, CARS2, CHMP2B, CIZ1, COASY, COL4A1, COL6A3, COQ9, COX20, CP, CSTB, CYP27A1, DCAF17, DCTN1, DDC, DLAT, DRD2, DRD5, EARS2, ECHS1, ERCC6, FA2H, FASTKD2, FBXO7, FOXG1, FTL, FUCA1, GCDH, GCH1, GLRA1, GM2A, GNAL, GNAO1, HEXA, HNRNPA2B1, HPCA, HPRT1, KCNJ6, KCNMA1, KIF1C, MARS2, MCOLN1, MECP2, MR1, MRE11, NADK2, NKX2-1, NPC1, NPC2, NUBPL, PANK2, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PLA2G6, PNKD, PNKP, POLG, POLR3A, POLR3B, PRKN, PRKRA, PRRT2, PTS, RELN, SCP2, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SPAST, SPR, SQSTM1, SUCLA2, SYNJ1, TAF1, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TSFM, TTC19, TUBB4A, UBTF, VPS13A, WDR45

DISTROFIA MUSCULAR DE CINTURAS (LGMD): 54 genes – Plazos de entrega: 3-4 semanas

ANO5, BVES, CAPN3, CAV3, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DOK7, DPM3, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, GOSR2, HNRNPDL, ISPD, KBTBD13, LAMA2, LIMS2, LMNA, MTAP, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, SQSTM1, TCAP, TK2, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP

DISTROFIAS MUSCULARES/ MIOPATÍAS: 250 genes – Plazos de entrega: 3-4 semanas

AARS, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACVR1, AGK, AGL, AGRN, AIFM1, ALDOA, ALG14, ALG2, AMACR, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B3GNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1A, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CLCN1, CLN3, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ2, COX15, CPT1A, CPT2, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYNC2H1, DYSF, EGR2, EMD, ETFA, ETFB, ETFDH, EXOSC3, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GARS, GBE1, GCDH, GDAP1, GFM1, GFPT1, GLRA1, GLRB, GMPPB, GNE, GNPTAB, GOSR2, GYG1, GYS1, HADH, HADHA, HADHB, HINT1, HNRNPDL, HNRNPU, HRAS, HSPG2, IGHMBP2, INPP5K, ISCU, ISPD, ITGA7, ITGA9, KBTBD13, KCNJ2, KCNT1, KIF21A, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LIMS2, LMNA, LMOD3, LPIN1, LRP4, MAMLD1, MATR3, MEGF10, MFN2, MICU1, MME, MMEL1, MPZ, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH7, MYL2, MYO18B, MYOT, MYPN, NEB, NEFL, OPA1, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHOX2B, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, SCN1A, SCN4A, SCN8A, SCO2, SELENON, SEPT9, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SKI, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC35A2, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SNAP25, SPEG, SPG7, SPTAN1, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SYNE1, SYNE2, SYT2, TAZ, TCAP, TIA1, TK2, TMEM43, TMEM70, TNNT1, TNNT3, TNPO3, TNXB, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TSFM, TTN, TTR, TUBB2B, TUBB3, TYMP, UBA1, VCP, VMA21, VPS13A, VRK1

DISTROGLICANOPATÍAS (SD. WALKER-WARBURG): 22 genes – Plazos de entrega: 3-4 semanas

B3GALNT2, B3GNT2, B4GAT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, GOSR2, ISPD, ITGA7, LARGE1, MTM1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SGCA

ENCEFALOPATÍA EPILÉPTICA INFANTIL: 139 genes – Plazos de entrega: 3-4 semanas

AARS, ACY1, ADAM22, ADSL, ALDH7A1, ALG13, AP3B2, ARFGEF2, ARHGEF9, ARV1, ARX, ATP1A2, ATP6AP2, BCKDK, BRAT1, CACNA1A, CACNA2D2, CASK, CASR, CBL, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNPY3, CNTNAP2, CSNK1G1, CSTB, CTSD, DENND5A, DNM1, DOCK7, EEF1A2, EPM2A, FARS2, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB3, GABRG2, GAMT, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC4, HNRNPU, IER3IP1, IQSEC2, ITPA, KCNA2, KCNB1, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KPNA7, LGI1, MAGI2, MAPK10, MBD5, MDH2, MECP2, MEF2C, MFSD8, MTOR, NECAP1, NEDD4L, NHLRC1, NRXN1, NTRK2, OTC, PCDH19, PIGA, PIGN, PIGO, PIGQ, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, QARS1, RARS2, RELN, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TPP1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, VRK1, WWOX

ENCEFALOPATÍA POR GLICINA/ HIPERGLICINEMIA NO CETÓSICA: 13 genes – Plazos de entrega: 3-4 semanas

AMT, BOLA3, DLD, GCSH, GLDC, GLRX5, IBA57, ISCA2, LIAS, LIPT1, NFU1, PNPO, SLC6A9

ENFERMEDADES MUSCULARES DE CAUSA GENÉTICA (EMCG): 416 genes – Plazos de entrega: 3-4 semanas

AARS, AARS2, ABCC9, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACBD5, ACTA1, ACTG2, ACTN2, ACVR1, ACVR2B, ADCY6, AGK, AGL, AGPAT2, AGRN, AIFM1, ALDOA, ALG14, ALG2, ALG3, AMACR, AMPD1, ANO5, ANTXR2, ARX, ASCC1, ATP1A2, ATP2A1, ATP7A, B3GALNT2, B3GNT2, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BSCL2, BVES, C12orf65, CACNA1A, CACNA1E, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CIDEC, CLCN1, CLN3, CNBP, CNTN1, CNTNAP1, COA5, COG8, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ2, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, CPT1A, CPT1B, CPT2, CRYAB, CYP2C8, DAG1, DES, DGUOK, DLAT, DMD, DMPK, DNA2, DNAJB6, DNAJC19, DNM1L, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYNC2H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, ELAC2, EMD, ENO3, EPG5, ERBB3, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FBN1, FBN2, FBXL4, FDX2, FHL1, FHL2, FKBP14, FKRP, FKTN, FLNC, FOXRED1, GAA, GARS, GATM, GBE1, GCDH, GCLC, GDAP1, GFER, GFM1, GFPT1, GLB1, GLE1, GLRA1, GLRB, GMPPB, GNE, GNPTAB, GOSR2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HIBCH, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HNRNPU, HRAS, HSPB1, HSPB8, HSPG2, HTRA2, IARS2, IGHMBP2, INPP5K, ISCU, ISPD, ITGA7, ITGA9, KBTBD13, KCNA1, KCNJ2, KCNJ5, KCNT1, KIAA1109, KIF14, KIF21A, KLHL40, KLHL41, KLHL9, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LIPE, LIPT1, LMNA, LMNB2, LMOD3, LPIN1, LRP4, LRPPRC, LYRM7, MAGEL2, MAMLD1, MATR3, MEGF10, MET, MFN2, MGME1, MICU1, MME, MMEL1, MPV17, MPZ, MSTN, MTAP, MTHFR, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYO18B, MYOD1, MYOT, MYPN, NALCN, NARS2, NDUFA11, NDUFA12, NDUFA9, NDUFAF1, NDUFAF4, NDUFAF6, NDUFB3, NDUFS4, NDUFV2, NEB, NEFL, NFU1, NUBPL, OPA1, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PI4KA, PIEZO2, PIP5K1C, PLEC, PLIN1, PMM2, PNPLA2, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPARG, PPP3CA, PREPL, PRKAG2, PSMB8, PTRH2, PUS1, PYGL, PYGM, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, RYR3, SARS2, SCN1A, SCN4A, SCN8A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SEPT9, SERAC1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SKI, SLC16A1, SLC16A2, SLC19A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A4, SLC35A2, SLC35A3, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SLC6A8, SLC6A9, SMCHD1, SMN1, SMN2, SMPD1, SNAP25, SPEG, SPG7, SPTAN1, SQSTM1, STAC3, STIM1, STIM2, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TAZ, TBCE, TCAP, TIA1, TK2, TMEM43, TMEM70, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM63, TRPV4, TSFM, TTC19, TTN, TTR, TUBB2A, TUBB2B, TUBB3, TWNK, TYMP, UBA1, VAMP1, VARS2, VCP, VIPAS39, VMA21, VPS13A, VPS33B, VRK1, XK, YARS2, ZBTB42, ZC4H2, ZMPSTE24

ENFERMEDADES NEURO-OFTALMOLÓGICAS: 56 genes – Plazos de entrega: 3-4 semanas

ACO2, AFG3L2, ANTXR1, APTX, ATAD3A, AUH, C12orf65, C19orf12, CHN1, CISD2, DNAJC19, DNM1L, FRMD7, GPR143, HESX1, ISCA2, KIF21A, MFN2, MGME1, MTPAP, NARS2, NBAS, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, OTX2, PAX6, PDSS1, PHOX2A, POLG, PRPS1, ROBO3, RRM2B, SALL4, SETX, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SPG7, SUCLA2, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TWNK, TYMP, UCHL1, WFS1

ENFERMEDADES NEUROMUSCULARES GLOBAL: 526 genes – Plazos de entrega: 3-4 semanas

AAAS, ABCC9, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACBD5, ACO2, ACTA1, ACTG2, ACTN2, ACVR2B, ADCY6, AGK, AGL, AGPAT2, AGRN, AHCY, AIFM1, ALDOA, ALG13, ALG14, ALG2, ALG3, AMACR, AMPD1, AMPD2, AMPD3, ANO5, APTX, AR, ARHGEF10, ARHGEF9, ARL6IP1, ARSA, ASAH1, ASCC1, ASCC3, ATAD3A, ATL1, ATL3, ATP13A2, ATP1A1, ATP1A2, ATP2A1, ATP7A, ATP7B, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BSCL2, BVES, C12orf65, C19orf12, CACNA1E, CACNA1S, CAPN1, CAPN3, CASK, CASQ1, CAV1, CAV3, CAVIN1, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CIDEC, CLCN1, CLTCL1, CNTN1, CNTNAP1, COA5, COASY, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, CPOX, CPT1A, CPT1B, CPT2, CRLF1, CRYAB, CSRP3, CTDP1, CTSD, CYP27A1, CYP2C8, DAG1, DARS2, DCAF8, DCTN1, DDC, DES, DGUOK, DHCR24, DHH, DHTKD1, DLAT, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNAJC19, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DSTYK, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, ELAC2, ELP1, EMD, ENO3, EPG5, ERBB3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FBLN5, FBN2, FBXL4, FBXO38, FDX2, FGD4, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FOXRED1, G6PC, GAA, GALC, GAN, GATM, GBA, GBA2, GBE1, GCLC, GDAP1, GFER, GFM1, GFPT1, GJB1, GJB3, GJC2, GLA, GLB1, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GOSR2, GPHN, GSN, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HEXA, HIBCH, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSD17B4, HSPB1, HSPB3, HSPB8, HSPG2, HTRA2, IARS2, IBA57, IGHMBP2, INF2, INPP5K, ISCU, ISPD, ITGA7, ITGA9, JAG2, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KLHL9, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LIPE, LITAF, LMNA, LMNB2, LMOD3, LPIN1, LRP4, LRSAM1, LYRM7, LYST, MAGEL2, MAMLD1, MAN2B1, MATR3, MCM3AP, MED25, MEFV, MEGF10, MET, MFN2, MGME1, MICU1, MME, MPV17, MPZ, MSTN, MTAP, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MUSK, MYBPC1, MYBPC3, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYO18B, MYOD1, MYOF, MYOT, MYPN, NAGLU, NALCN, NARS2, NDRG1, NDUFA11, NDUFA12, NDUFA9, NDUFAF1, NDUFAF4, NDUFAF6, NDUFB3, NDUFS4, NDUFV2, NEB, NEFH, NEFL, NFU1, NGF, NLRP3, NPL, NTRK1, NUBPL, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDK3, PDSS1, PDSS2, PDXK, PET100, PEX1, PEX10, PEX12, PEX14, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PHYH, PIEZO2, PIP5K1C, PLA2G6, PLD3, PLEC, PLEKHG5, PLIN1, PLOD2, PMM2, PMP22, PNKP, PNPLA2, PNPLA6, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPARG, PPP3CA, PREPL, PRKAG2, PRPS1, PRX, PSAP, PSMB8, PTPN22, PTRH2, PUS1, PYGM, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, RYR2, RYR3, SARS2, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHD, SELENON, SERAC1, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC22A5, SLC25A1, SLC25A20, SLC25A21, SLC25A3, SLC25A4, SLC25A46, SLC35A2, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SLC9A3R1, SMCHD1, SMN1, SMN2, SMPD1, SMPX, SNAP25, SOD1, SORD, SOX10, SPEG, SPG11, SPTAN1, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, STUB1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TAZ, TBC1D24, TBCE, TBCK, TCAP, TDP1, TECPR2, TFG, TGFB3, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM63, TRPA1, TRPV4, TSEN2, TSFM, TTC19, TTN, TTR, TWNK, TXN2, TYMP, UBA1, UNC80, VAMP1, VAPB, VARS2, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, XK, YARS2, ZBTB42, ZC4H2

EPILEPSIA GENERALIZADA CON ATAQUES FEBRILES PLUS/ SÍNDROME DE DRAVET: 19 genes – Plazos de entrega: 3-4 semanas

ADGRV1, CHD2, CPA6, GABRA1, GABRB3, GABRD, GABRG2, HCN1, KCNA2, KCNQ2, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, STX1B, STXBP1

EPILEPSIA MIOCLÓNICA JUVENIL: 7 genes – Plazos de entrega: 3-4 semanas

CACNB4, CLCN2, EFHC1, GABRA1, GABRD, ICK, TBC1D24

EPILEPSIA MIOCLÓNICA PROGRESIVA: 29 genes – Plazos de entrega: 3-4 semanas

ASAH1, ATP13A2, BRAT1, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRICKLE1, PRICKLE2, PSAP, SCARB2, SLC6A1, TBC1D24, TPP1

EPILEPSIAS GLOBAL: 672 genes – Plazos de entrega: 3-4 semanas

AARS, ABAT, ABCA2, ABCC8, ABCD1, ACY1, ADAM22, ADAR, ADGRG1, ADGRV1, ADNP, ADRA2B, ADSL, AFF3, AFG3L2, AGA, AHI1, AIFM1, AIMP1, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ANK3, ANKRD11, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ASXL3, ATIC, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATPAF2, ATRX, AUH, B4GALT1, BCKDHB, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BRD2, BTD, BUB1B, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CARS2, CASK, CASR, CBL, CC2D1A, CC2D2A, CCDC88C, CCL2, CDC42, CDK19, CDKL5, CENPJ, CEP290, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN2, CLCN3, CLCN4, CLCN6, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNPY3, CNTN2, CNTNAP2, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL4A3BP, COQ2, COQ4, COQ8A, COQ9, COX10, COX15, COX6B1, CPA6, CPS1, CPT2, CRH, CSF1R, CSNK1G1, CSTB, CTC1, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUX2, CYP27A1, D2HGDH, DARS, DARS2, DCX, DDC, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR7, DHDDS, DHFR, DIAPH1, DLD, DLG3, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMC1, EML1, EMX2, EOGT, EPG5, EPM2A, ERMARD, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FASN, FBXO11, FBXO28, FDFT1, FGD1, FGF13, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB3, GABRD, GABRG2, GAD1, GALC, GAMT, GATAD2B, GATM, GBA, GCDH, GCH1, GCK, GCSH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNE, GNS, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, HACE1, HAX1, HCN1, HCN2, HCN4, HDAC4, HDAC8, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HNRNPU, HPD, HRAS, HSD17B10, HSPD1, HTRA1, HTT, HUWE1, IBA57, ICK, IDS, IER3IP1, IFIH1, IL1RAPL1, IQSEC2, ITPA, KANSL1, KCNA1, KCNA2, KCNA4, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNV2, KCTD3, KCTD7, KDM5C, KDM6A, KIF1A, KIF1BP, KIF2A, KIF5A, KIF5C, KMT2D, KMT2E, KPNA7, KPTN, KRAS, L2HGDH, LAMA2, LAMC3, LARGE1, LBR, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, LYRM7, MACF1, MAGI2, MAP2K1, MAP2K2, MAPK10, MARS2, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MDH1, MDH2, ME2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MLC1, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MRPL44, MTFMT, MTHFR, MTOR, MYO5A, NAGA, NAGLU, NALCN, NBEA, NCKAP1, NDE1, NDST1, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEXMIF, NF1, NFU1, NGLY1, NHLRC1, NIPBL, NLGN3, NOL3, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NR2F1, NRXN1, NSD1, NSDHL, NT5C2, NTNG1, NTRK2, NUBPL, OCLN, OFD1, OPHN1, OTC, PACS1, PAFAH1B1, PAK3, PANK2, PARS2, PC, PCDH19, PCLO, PCNT, PDHA1, PDHB, PDSS2, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSPH, PTCH1, PTEN, PTPN11, PTPN23, PTS, PURA, PYCR2, QARS, QDPR, RAB27A, RAB39B, RAB3GAP1, RAI1, RANBP2, RARS, RARS2, RBFOX1, RBFOX3, RBPJ, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, RORA, RPGRIP1L, RTTN, RYR3, SAMHD1, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SGSH, SHANK1, SHANK3, SHH, SHOC2, SIX3, SLC12A1, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC46A1, SLC4A10, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMC3, SMS, SNAP25, SNIP1, SOX10, SPATA5L1, SPOP, SPRED1, SPTAN1, SRGAP2, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAG2, STIL, STRADA, STX1B, STXBP1, STXBP2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TAF1, TBC1D20, TBC1D24, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TH, TK2, TMEM67, TMEM70, TNK2, TNPO2, TPK1, TPP1, TRAK1, TREX1, TRIT1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TTC5, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, UBE2A, UBE3A, UBR7, UBTF, UNC80, VARS2, VPS13A, VPS13B, WDR45, WDR62, WWOX, YY1, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZSWIM6

EPILEPSIAS NEUROMETABÓLICAS: 56 genes – Plazos de entrega: 3-4 semanas

ABAT, ADSL, AGA, ALDH5A1, ALDH7A1, ALG13, AMT, ARG1, BCKDK, BTD, D2HGDH, DHFR, DNM1L, DPYD, DPYS, ETFA, ETFB, ETFDH, ETHE1, FH, FOLR1, GAMT, GCDH, GCH1, GCSH, GLDC, GNE, GPHN, HIBCH, L2HGDH, LIAS, MMACHC, MOCS1, MTHFR, NDUFAF3, NDUFS6, PDHA1, PDHB, PEX1, PGK1, PHF6, PNPO, POLG, PRODH, PTS, QDPR, SERAC1, SLC19A3, SLC25A1, SLC25A15, SLC2A1, SLC46A1, SLC6A8, ST3GAL5, SUOX, TPK1

ESCLEROSIS LATERAL AMIOTRÓFICA: 57 genes – Plazos de entrega: 3-4 semanas

ABCD1, ABHD12, ALS2, ANG, ANXA11, ATL1, ATXN2, BSCL2, C9orf72, CFAP410, CHCHD10, CHMP2B, CRYM, DAO, DCTN1, ERBB4, FIG4, FUS, GBE1, GRN, HEXA, HNRNPA1, HNRNPA2B1, HSPD1, KIF5A, LUM, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PRF1, PRPH, PSEN1, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPART, SPAST, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TFG, TIA1, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP, VEGFA

FACOMATOSIS: 27 genes – Plazos de entrega: 3-4 semanas

APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN

HIDROCEFALIA/ VENTRICULOMEGALIA: 33 genes – Plazos de entrega: 3-4 semanas

AKT3, AP1S2, ARX, CCDC88C, CCND2, CRB2, DNAI1, EML1, FLNA, FLVCR2, FMN2, FOXJ1, FXYD2, GFAP, GPSM2, HCCS, HDAC6, KIAA1109, L1CAM, MPDZ, MTOR, PIK3CA, PIK3R2, POMK, POMT1, PTCH1, PTEN, SEC24D, SHH, SMARCC1, TBX15, WDR81, ZIC3

HIPOPLASIA PONTOCEREBELOSA: 25 genes – Plazos de entrega: 3-4 semanas

AMPD2, CASK, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8, OPHN1, PCLO, RARS2, RELN, SEPSECS, TBC1D23, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1, ZIC4

HOLOPROSENCEFALIA: 18 genes – Plazos de entrega: 3-4 semanas

CDON, DISP1, DKK1, DLL1, EMX2, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, STIL, TGIF1, ZIC2

ICTUS Y HEMIPLEGIA: 17 genes – Plazos de entrega: 3-4 semanas

ACTA2, ADA2, ATP1A2, ATP1A3, CACNA1A, COL4A1, COL4A2, GLA, HTRA1, ITM2B, NOTCH3, OTC, POLG, SCN1A, SCN5A, SLC2A1, TREX1

LEUCODISTROFIAS Y LEUCOENCEFALOPATÍAS: 355 genes – Plazos de entrega: 3-4 semanas

AARS, AARS2, ABAT, ABCA1, ABCD1, ACADS, ACOX1, ACP5, ACY1, ADAR, ADGRG1, ADK, ADSL, AGA, AHDC1, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, ATP7A, ATP7B, AUH, B3GALNT2, BCAP31, BCS1L, BEST1, BMP4, BOLA3, BRAT1, C19orf12, CARS2, CBS, CHMP2B, CLCN2, CLN6, CLP1, CLPP, CNTNAP1, COL4A1, COL4A2, COQ2, COQ9, COX10, COX15, COX6B1, COX7B, CPS1, CSF1R, CTC1, CTDP1, CTSA, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DCAF17, DDHD2, DEAF1, DGUOK, DHFR, DHH, DLL4, DNM1L, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOGT, EPG5, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FA2H, FAM126A, FARS2, FBXL4, FDFT1, FDX2, FGD4, FGFRL1, FH, FIG4, FKRP, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, GAA, GALC, GALT, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, GTF2H5, HEPACAM, HEXA, HIBCH, HK1, HMGCL, HSD17B4, HSPD1, HTRA1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, JAM3, KARS, KCNJ10, KCNT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MLYCD, MOCS1, MOCS2, MPLKIP, MPV17, MPZ, MRPL44, MRPS22, MTFMT, MTHFR, MTHFS, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NPC1, NPC2, NRXN1, NT5C2, NUBPL, OCLN, OCRL, OTC, PAFAH1B1, PAH, PANK2, PC, PDHA1, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLA2G6, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PPT1, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RANBP2, RARS, RBPJ, REEP1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RRM2B, SAMHD1, SBF2, SCO1, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SH3TC2, SHANK3, SLC16A2, SLC17A5, SLC19A3, SLC25A1, SLC25A12, SLC25A22, SLC25A4, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SLC6A9, SNAP29, SNIP1, SOX10, SPART, SPG11, SPG7, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUCLA2, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TSC1, TSEN54, TTC19, TUBB2A, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, WWOX, YY1, ZEB2, ZFYVE26, ZNF335

LIPOFUSCINOSIS NEURONAL CEROIDEA: 13 genes – Plazos de entrega: 3-4 semanas

ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1

LISENCEFALIA: 40 genes – Plazos de entrega: 3-4 semanas

ACTB, ACTG1, ADGRG1, APC2, ARX, ATP6V0A2, B3GALNT2, CDK5, CEP85L, CRADD, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIAA1109, KIF2A, KIF5C, LAMB1, LARGE1, MACF1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE

MALFORMACIÓN CEREBRAL: 370 genes – Plazos de entrega: 3-4 semanas

ACTB, ACTG1, ADAR, ADGRG1, ADNP, AHDC1, AHI1, AKT3, AMPD2, ANKLE2, ANOS1, AP4M1, APC2, ARFGEF2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL3, ARX, ASNS, ASPM, ATP1A2, ATP6V0A2, ATP7A, ATR, ATRIP, ATRX, AUTS2, B3GALNT2, B3GLCT, B3GNT2, B4GAT1, B9D1, B9D2, BCL11A, BCOR, BMP4, BRWD3, C12orf57, C19orf12, C2CD3, C7orf43, CASK, CC2D2A, CCM2, CCND2, CDC6, CDH2, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CEP85L, CHD7, CHMP1A, CLP1, CNOT3, CNTNAP2, COASY, COL18A1, COL3A1, COL4A1, COL4A2, COL4A4, COL6A1, COL6A2, COL6A3, CP, CPLANE1, CPT2, CRADD, CREBBP, CSF1R, CSPP1, CTNNA2, CTNNB1, CUL4B, DAG1, DCHS1, DCX, DDX3X, DEPDC5, DHCR24, DHCR7, DIAPH1, DIS3L2, DISC1, DISP1, DKC1, DLG4, DLL1, DMXL2, DOCK6, DYNC1H1, DYRK1A, EFNB1, EMC1, EML1, EMX2, EOGT, EOMES, EP300, EPG5, ERMARD, EXOSC3, EXOSC8, EZH2, FA2H, FAT4, FDFT1, FGD1, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMR1, FOXA2, FOXG1, FOXH1, FOXP1, FTL, GAS1, GFM1, GLI2, GLI3, GMPPB, GNRH1, GNRHR, GPSM2, GRIN2B, HCCS, HESX1, HIVEP2, HK1, HS6ST1, HYLS1, IER3IP1, IFT172, IGBP1, IGF1, INPP5E, IQSEC2, ISPD, JAM3, KAT6B, KATNB1, KCNMA1, KCNT1, KIF11, KIF14, KIF1A, KIF1BP, KIF21A, KIF2A, KIF4A, KIF5C, KIF7, KISS1, KISS1R, KMT2E, KNL1, KRIT1, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LMNA, LRP2, MACF1, MBD5, MCM5, MCPH1, MECP2, MED12, MED17, MEF2C, MFSD2A, MID1, MKS1, MN1, MPDZ, MRE11, MTOR, MYCN, NCAPD2, NDE1, NEDD4L, NFIB, NFIX, NIN, NODAL, NOTCH1, NPHP1, NPHP3, NSD1, NSD2, NSDHL, NSMF, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OTX2, PAFAH1B1, PANK2, PAX3, PAX6, PCLO, PCNT, PDCD10, PDE6D, PDGFRB, PDHA1, PDHB, PEX7, PHC1, PHGDH, PI4KA, PIBF1, PIK3CA, PIK3R2, PLA2G6, PLK4, PMM2, PNKP, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, PROP1, PRRX1, PSAT1, PTCH1, PTEN, PYCR1, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RBM10, RBPJ, RELN, RERE, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RTTN, RXYLT1, SAMHD1, SASS6, SCN3A, SELENON, SEMA3A, SEMA3E, SEPSECS, SETD2, SHH, SIX3, SLC12A6, SLC25A19, SLC25A46, SLC2A1, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SNAP29, SOX2, SOX3, SPECC1L, SPG11, SPTAN1, SRD5A3, SRPX2, STAG2, STAMBP, STIL, STRA6, STXBP1, SUFU, TAC3, TACR3, TBC1D20, TBC1D23, TBC1D24, TBR1, TBX1, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TGIF1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMTC3, TRAPPC9, TREX1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, UBE3A, UBE3B, UPF3B, USP7, USP9X, VAX1, VLDLR, VPS13A, VPS13B, VPS53, VRK1, WDFY3, WDR11, WDR45, WDR62, WDR73, YWHAE, ZBTB18, ZBTB20, ZEB2, ZIC2, ZNF335, ZNF423

MICROCEFALIA: 127 genes – Plazos de entrega: 3-4 semanas

AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ATR, ATRIP, ATRX, BRAT1, BUB1B, C7orf43, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CKAP2L, CLP1, COASY, COX7B, CREBBP, CRIPT, CTNNA2, CTNNB1, DDX3X, DHCR7, DIAPH1, DNM1L, DYRK1A, EFTUD2, EP300, EXOSC3, EXOSC8, FOXG1, HMGB3, IER3IP1, KAT6A, KATNB1, KIF11, KIF14, KIF1A, KIF2A, KIF5C, KMT2D, KNL1, LIG4, MCM5, MCPH1, MECP2, MED17, MFSD2A, MRE11, MSMO1, MYCN, NBN, NCAPD2, NDE1, NHEJ1, NIN, NIPBL, NR2E1, ORC1, ORC4, ORC6, PAFAH1B1, PCLO, PCNT, PHC1, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, QARS, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RNASEH2C, RTTN, SASS6, SEPSECS, SLC25A19, SLC2A1, SLC9A6, SNAP29, STAMBP, STIL, TBC1D20, TBC1D23, TCF4, THOC6, TRAPPC9, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VPS53, VRK1, WDFY3, WDR62, WDR73, XRCC4, ZEB2, ZNF335

MICROCEFALIA E HIPOPLASIA PONTOCEREBELOSA: 189 genes – Plazos de entrega: 3-4 semanas

AAAS, AIMP1, AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ARNT2, ASNS, ASPM, ASXL1, ASXL3, ATP6V0A2, ATR, ATRIP, ATRX, AUTS2, BRAT1, BUB1B, C7orf43, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CKAP2L, CLP1, COASY, COX7B, CREBBP, CRIPT, CTCF, CTNNA2, CTNNB1, CWF19L1, CYB5R3, DDX3X, DHCR24, DHCR7, DIAPH1, DKC1, DNA2, DNM1L, DOCK6, DPM1, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, EP300, EPG5, ERCC6, EXOSC3, EXOSC8, FANCA, FOXG1, GFM1, GLYCTK, GMPPB, GPT2, HMGB3, IER3IP1, ITPR1, KANSL1, KAT6A, KATNB1, KDM5C, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5C, KMT2D, KNL1, KRT6A, LIG4, MBD5, MCM4, MCM5, MCPH1, MECP2, MED17, MFSD2A, MRE11, MSMO1, MYCN, MYO18B, NBN, NCAPD2, NDE1, NHEJ1, NIN, NIPBL, NR2E1, OCLN, OPHN1, ORC1, ORC4, ORC6, PAFAH1B1, PAK3, PCLO, PCNT, PDHA1, PHC1, PHGDH, PIEZO2, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, PSPH, PTF1A, PYCR2, QARS, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RNASEH2C, RTTN, SASS6, SATB2, SEPSECS, SF3B4, SHH, SLC16A2, SLC25A19, SLC2A1, SLC9A6, SMAD4, SMARCA2, SMARCE1, SNAP29, SNX14, SOX11, SOX2, STAG2, STAMBP, STIL, TAF2, TBC1D20, TBC1D23, TBX1, TCF4, THOC6, TINF2, TMTC3, TOP3A, TRAPPC9, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, UBE3A, UBE3B, VLDLR, VPS13B, VPS53, VRK1, WDFY3, WDR62, WDR73, WDR81, XRCC4, ZEB2, ZIC4, ZNF335

MIGRAÑA FAMILIAR: 37 genes – Plazos de entrega: 3-4 semanas

ACVRL1, ALDH7A1, AMACR, ARX, ATP1A2, ATP1A3, CACNA1A, CDKL5, COL4A1, COL4A2, CSNK1D, ENG, FOLR1, FOXG1, GAMT, KCNK18, KCNQ2, MECP2, NOTCH3, PCDH19, PDGFB, PEX11B, PGK1, PHGDH, PNKD, PNPO, POLG, PPT1, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4, STIM1, STXBP1, TNF, TREX1

MIOPATÍA CONGÉNITA CENTRONUCLEAR: 10 genes – Plazos de entrega: 3-4 semanas

BIN1, CCDC78, DNM2, MAMLD1, MTM1, MTMR14, MYF6, RYR1, SPEG, TTN

MIOPATÍA METABÓLICA, RABDOMIOLISIS E INTOLERANCIA AL EJERCICIO: 166 genes – Plazos de entrega: 3-4 semanas

ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AHCY, ALDOA, AMACR, AMPD1, ANO5, ATP2A1, ATP7B, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CNTN1, COL6A1, COL6A2, COL6A3, COQ2, COQ4, COQ8A, COQ9, COX15, COX20, COX6B1, CPT1A, CPT2, CRYAB, CTDP1, CYP2C8, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GATM, GBE1, GFER, GMPPB, GNE, GYG1, GYS1, HADH, HADHA, HADHB, HMBS, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LPIN1, MAN2B1, MATR3, MEGF10, MGME1, MICU1, MPV17, MTM1, MYH3, MYH7, MYL2, MYOT, MYPN, NEB, OBSCN, OPA1, OPA3, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PUS1, PYGM, RBCK1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, TAZ, TCAP, TK2, TNNT1, TNPO3, TOP3A, TPM2, TPM3, TRIM32, TSEN54, TSFM, TTN, TWNK, TYMP, VCP, YARS2

MIOPATÍA MIOFIBRILAR: 8 genes – Plazos de entrega: 3-4 semanas

BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT

MIOPATÍA NEMALÍNICA: 14 genes – Plazos de entrega: 3-4 semanas

ACTA1, BIN1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, MYO18B, MYPN, NEB, TNNT1, TPM2, TPM3

MIOPATÍAS DISTALES: 25 genes – Plazos de entrega: 3-4 semanas

AGL, ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, LMNA, MATR3, MYH7, MYOT, NEB, PNPLA2, SQSTM1, TCAP, TIA1, TRPV4, TTN, VCP

MIOPATÍAS RETRÁCTILES: 33 genes – Plazos de entrega: 3-4 semanas

ADAMTS2, BAG3, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL6A6, EMD, FBLN5, FHL1, FKBP14, FKRP, FLNC, HSPG2, ITGA7, LAMA2, LMNA, MYH7, PLOD1, RYR1, SELENON, STIM1, SYNE1, SYNE2, TMEM43, TNXB, TRIM32, TTN

MIOTONÍA CONGÉNITA NO DISTRÓFICA: 10 genes – Plazos de entrega: 3-4 semanas

ATP2A1, CACNA1S, CAV3, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, KCNJ2, SCN4A

NEURODEGENERACIÓN CON ACUMULACIÓN CEREBRAL DE HIERRO: 22 genes – Plazos de entrega: 3-4 semanas

AP4M1, ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, FUCA1, GCDH, GJA1, KIF1A, NALCN, PANK2, PLA2G6, PSEN1, SCP2, SQSTM1, UBTF, VPS13A, WDR45

NEUROFIBROMATOSIS/ SCHWANNOMATOSIS: 16 genes – Plazos de entrega: 3-4 semanas

CABIN1, CCND1, COQ6, KIT, KITLG, LZTR1, NF1, NF2, PRKAR1A, PTPN11, RAF1, SMARCB1, SPRED1, TSC1, TSC2, VHL

NEUROPATÍA HEREDITARIA SENSITIVO-AUTONÓMICA: 30 genes – Plazos de entrega: 3-4 semanas

ARL6IP1, ATL1, ATL3, CCT5, CLTCL1, DNMT1, DST, ELP1, FLVCR1, GLA, KIF1A, KIF5A, MEFV, NAGLU, NGF, NLRP3, NTRK1, POLG, PRNP, RAB7A, RETREG1, SCN10A, SCN11A, SCN9A, SEPT9, SPTLC1, SPTLC2, TRPA1, TTR, WNK1

NEUROPATÍA MOTORA DISTAL HEREDITARIA: 44 genes – Plazos de entrega: 3-4 semanas

AARS, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, CTDP1, DCTN1, DNAJB2, DNMT1, DYNC1H1, FBXO38, FIG4, GAN, GARS, GJB1, HARS, HEXA, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MEGF10, MFN2, PLEKHG5, REEP1, REEP2, SCP2, SETX, SIGMAR1, SLC52A3, SLC5A2, SLC5A7, SMN1, SMN2, SYT2, TFG, TRPV4, UBA1, VAPB, VRK1

NEUROPATÍAS HEREDITARIAS GLOBAL: 240 genes – Plazos de entrega: 3-4 semanas

AAAS, AARS, ABCD1, ABHD12, ACO2, AGRN, AGTPBP1, AIFM1, ALG13, ALG14, ALG2, AMACR, AMPD2, APOA1, APTX, AR, ARHGEF10, ARL6IP1, ARSA, ASAH1, ASCC1, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP7A, B4GALNT1, BAG3, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CHAT, CHCHD10, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLTCL1, CNTNAP1, COASY, COLQ, COQ4, COX10, COX6A1, CPOX, CTDP1, CTSD, CYP27A1, CYP7B1, DARS2, DCAF8, DCTN1, DGUOK, DHH, DHTKD1, DNAJB2, DNM2, DNMT1, DOK7, DPAGT1, DRP2, DST, DSTYK, DYNC1H1, EGR2, ELP1, EXOSC3, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS, GBA2, GBE1, GCLC, GDAP1, GFPT1, GJB1, GJB3, GJC2, GLA, GM2A, GNB4, GNE, GSN, HADHA, HADHB, HARS, HEXA, HEXB, HINT1, HK1, HMBS, HOXD10, HSD17B4, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, L1CAM, LAMB2, LAS1L, LDB3, LITAF, LMNA, LRP4, LRSAM1, LYST, MARS, MCM3AP, MED25, MEFV, MEGF10, MFN2, MME, MPV17, MPZ, MTMR2, MUSK, MYH14, MYOT, NAGLU, NDRG1, NDUFA9, NEFH, NEFL, NGF, NIPA1, NLRP3, NTRK1, OPA1, PDK3, PDSS1, PDSS2, PEX10, PEX16, PEX7, PHYH, PLA2G6, PLD3, PLEKHG5, PLP1, PMM2, PMP22, PNKP, PNPLA6, POLG, POLG2, PREPL, PRNP, PRPS1, PRX, PSAP, PTPN22, PTRH2, RAB7A, RAPSN, REEP1, REEP2, RETREG1, RTN2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SCP2, sep-09, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC16A2, SLC25A1, SLC25A46, SLC52A2, SLC52A3, SLC5A2, SLC5A7, SMAD3, SMN1, SMN2, SNAP25, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTLC1, SPTLC2, STUB1, SUCLA2, SURF1, SYT2, TBC1D24, TBCE, TDP1, TFG, TRIM2, TRPA1, TRPV4, TSFM, TTR, TUBB3, TWNK, TXN2, TYMP, UBA1, VAMP1, VAPB, VCP, VRK1, WNK1, XK, XPC, YARS, ZFYVE26, ZFYVE27

PARÁLISIS PERIÓDICA: 10 genes – Plazos de entrega: 3-4 semanas

ATP1A2, CACNA1S, CLCN1, KCNJ2, KCNJ5, MCM3AP, RYR1, SCN4A, SCNN1A, SLC12A3

PARAPARESIA ESPÁSTICA: 161 genes – Plazos de entrega: 3-4 semanas

AAAS, ABCD1, ACO2, ACOX1, ADAR, ADCY5, AFG3L2, AGTPBP1, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSA, ARSI, ATAD3A, ATL1, ATL3, ATP13A2, ATP2B4, ATRX, B4GALNT1, BICD2, BSCL2, BTD, C12orf65, C19orf12, CACNA1G, CAPN1, CCT5, CDK16, COASY, CPT1C, CSF1R, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS, DARS2, DDHD1, DDHD2, DNM2, DNMT1, DSTYK, EIF2B5, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAR1, FARS2, FIG4, FLRT1, FXN, GAD1, GALC, GAN, GBA2, GBE1, GCH1, GFAP, GJA1, GJC2, GLRX5, GPT2, GRID2, HACE1, HEXA, HSPD1, IBA57, IFIH1, ITPR1, KCNA2, KDM5C, KIF1A, KIF1C, KIF5A, L1CAM, L2HGDH, LYST, MAG, MARS, MARS2, MECP2, MFN2, MMACHC, MTHFR, MTPAP, NARS2, NFU1, NIPA1, NT5C2, OPA3, PAH, PEX16, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PQBP1, PSEN1, PTS, RAB3GAP1, RAB3GAP2, RARS, REEP1, REEP2, RNASEH2B, RNF170, RTN2, SACS, SAMHD1, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC19A3, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, TECPR2, TFG, TH, TREX1, TRPV4, TTR, TUBB3, TUBB4A, UCHL1, UNC80, USP8, VAMP1, VCP, VPS37A, VPS53, WASHC5, WDR48, ZEB2, ZFR, ZFYVE26, ZFYVE27

PARKINSON Y PARKINSONISMO: 97 genes – Plazos de entrega: 3-4 semanas

ADH1C, ADORA1, AFG3L2, ANO3, APOE, APP, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C19orf12, C9orf72, CHCHD10, CLN3, COASY, COQ2, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DNAJB2, DNAJC13, DNAJC5, DNAJC6, DNM1L, EIF4G1, FA2H, FBXO7, FMR1, FTL, GBA, GCH1, GIGYF2, GNAL, GRN, HTRA2, HTT, JPH3, KIF5A, LRRK2, LYST, MAPT, NOTCH3, NPC1, NPC2, NR4A2, OPA1, OPA3, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PEX1, PINK1, PLA2G6, PODXL, POLG, POLG2, PRKN, PRKRA, PRNP, PSEN1, PSEN2, PTS, RAB29, RAB39B, SGCE, SLC20A2, SLC30A10, SLC41A1, SLC6A3, SMPD1, SNCA, SNCAIP, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TBP, TENM4, TH, THAP1, TOR1A, TUBB4A, TWNK, UCHL1, VPS13A, VPS35, WDR45, ZFYVE26

POLIMICROGIRIA: 21 genes – Plazos de entrega: 3-4 semanas

ADGRG1, AKT3, FH, GPSM2, KIF1BP, KRT6A, LAMC3, NDE1, NSDHL, OCLN, PI4KA, RAB18, SNAP29, SRPX2, TBC1D20, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, WDR62

PORFIRIAS HEREDITARIAS: 11 genes – Plazos de entrega: 3-4 semanas

ALAD, ALAS2, C15orf41, CPOX, FECH, HFE, HMBS, PPOX, SLC19A2, UROD, UROS

RASOPATÍAS (INCLUYE SÍNDROME DE NOONAN/NOONAN-LIKE): 37 genes – Plazos de entrega: 3-4 semanas

ACTB, ACTG1, BMP2, BRAF, CABIN1, CBL, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1

SÍNDROME DE ADAMS-OLIVER: 14 genes – Plazos de entrega: 3-4 semanas

ARHGAP31, DLL4, DOCK6, DSP, EOGT, ITGA6, ITGB4, KCTD1, KRAS, KRT5, MYH9, NOTCH1, RBPJ, UBR1

SINDROME DE AICARDI-GOUTIÈRES: 7 genes – Plazos de entrega: 3-4 semanas

ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

SÍNDROME DE COCKAYNE: 7 genes – Plazos de entrega: 3-4 semanas

ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8

SÍNDROME DE COFFIN-SIRIS/COFFIN-SIRIS-LIKE: 24 genes – Plazos de entrega: 3-4 semanas

ADNP, ANKRD11, ARID1A, ARID1B, ARID2, BRD4, HDAC8, NIPBL, PACS1, PHF6, PIGV, RAD21, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SOX11, SOX4, STAG1, STAG2, TBC1D24

SÍNDROME DE DEPLECIÓN DEL ADN MITOCONDRIAL: 27 genes – Plazos de entrega: 3-4 semanas

AGK, APTX, AUH, C12orf65, DGUOK, FBXL4, MFN2, MGME1, MPV17, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TFAM, TIMM8A, TK2, TMEM126A, TWNK, TYMP, WFS1

SÍNDROME DE HIPOVENTILACIÓN CENTRAL CONGÉNITA: 21 genes – Plazos de entrega: 3-4 semanas

ASCL1, BDNF, BMP2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GDNF, GFRA1, GLRA1, MECP2, PHOX2A, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2

SÍNDROME DE JOUBERT (JBTS): 55 genes – Plazos de entrega: 3-4 semanas

AHI1, ANKS6, ARL13B, ARL3, ARL6, B9D1, B9D2, C2CD3, CC2D2A, CEP120, CEP164, CEP290, CEP41, CEP83, CPLANE1, CSPP1, EXOC8, GLI3, GLIS2, HYLS1, IFT172, IFT27, INPP5E, INVS, IQCB1, KIF14, KIF7, LZTFL1, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIBF1, POC1B, RPGR, RPGRIP1L, SDCCAG8, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, TTC8, WDPCP, WDR19, ZNF423

SÍNDROME DE KABUKI/ KABUKI-LIKE: 16 genes – Plazos de entrega: 3-4 semanas

ANKRD11, BCO1, CHD7, EYA1, FLNB, IRF6, KDM1A, KDM6A, KMT2A, KMT2D, MACROD2, RAP1A, RAP1B, SIX1, SIX5, SOX3

SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE: 20 genes – Plazos de entrega: 3-4 semanas

AHI1, B9D1, B9D2, CC2D2A, CEP290, CSPP1, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, WDPCP

SÍNDROME DE MICRO O WARBURG-SJO-FLEDELIUS: 7 genes – Plazos de entrega: 3-4 semanas

ALDH18A1, CREBBP, CUL7, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20

SÍNDROME DE RETT/ RETT-LIKE/ ANGELMAN: 63 genes – Plazos de entrega: 3-4 semanas

AADSL, ALDH5A1, ARX, ATRX, BTBD9, CDKL5, CHD4, CHRNA5, CNTNAP2, CTNNB1, DDX3X, DYRK1A, EEF1A2, EHMT1, EIF2B2, FOLR1, FOXG1, FOXP2, GABBR2, GABRA1, GABRD, GRIA3, GRIN2A, GRIN2B, HCN1, HDAC8, HERC2, IQSEC2, KANSL1, KCNA2, KCNQ2, KIF1A, MBD5, MECP2, MEF2C, MEIS2, MTHFR, NGLY1, NRXN1, NTNG1, PDHA1, PLP1, PPT1, SATB2, SCN1A, SCN2A, SCN8A, SHANK3, SHROOM4, SLC2A1, SLC39A13, SLC6A1, SLC9A6, SMC1A, STXBP1, SYNGAP1, TBL1XR1, TCF4, UBE3A, WAC, WDR45, ZBTB18, ZEB2

SÍNDROME DE ROBINOW: 10 genes – Plazos de entrega: 3-4 semanas

DVL1, FGD1, KDM6A, KMT2D, MID1, NXN, ROR2, SPECC1L, TWIST1, WNT5A

SÍNDROME DE SECKEL: 12 genes – Plazos de entrega: 3-4 semanas

ATR, ATRIP, CENPE, CENPJ, CEP152, CEP63, DNA2, LIG4, NIN, PCNT, PLK4, RBBP8

SÍNDROME DE USHER: 25 genes – Plazos de entrega: 3-4 semanas

ABHD12, ADGRV1, CDH23, CEP250, CIB2, CLRN1, COL4A6, DSPP, ESPN, GIPC3, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, PEX1, PEX6, PRPS1, TNC, USH1C, USH1G, USH2A, WHRN

SÍNDROME DE WAARDENBURG: 8 genes – Plazos de entrega: 3-4 semanas

EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR

SÍNDROME DE WALKER-WARBURG Y DISTROGLICANOPATÍAS: 22 genes – Plazos de entrega: 3-4 semanas

B3GALNT2, B3GNT2, B4GAT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, GOSR2, ISPD, ITGA7, LARGE1, MTM1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SGCA

SÍNDROME MIASTÉNICO CONGÉNITO: 30 genes – Plazos de entrega: 3-4 semanas

AGRN, ALG13, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, PLEC, PREPL, PTPN22, RAPSN, SCN4A, SLC25A1, SLC5A7, SNAP25, STIM1, SYT2, VAMP1

SORDERA/HIPOACUSIA GLOBAL: 448 genes – Plazos de entrega: 3-4 semanas

ABCC1, ABCC6, ABHD12, ABHD5, ACOX1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS2, ADCY1, ADGRV1, AIFM1, AKT3, ALMS1, ALOXE3, ANKH, ANLN, ARL6, ARSB, ATP1A3, ATP2B2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1B2, ATRX, B3GALT6, B4GALT7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCOR, BCS1L, BDP1, BGN, BMP5, BRAF, BSND, BTD, C1R, C1S, CABP2, CACNA1D, CATSPER2, CBL, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC50, CD151, CDC42, CDC6, CDH23, CDKN1C, CDT1, CEACAM16, CEMIP, CEP250, CEP290, CFAP53, CHD7, CHST14, CHSY1, CIB2, CISD2, CITED2, CLCNKA, CLCNKB, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CPS1, CRELD1, CRTAP, CRYL1, CRYM, CYR61, DBH, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC3, DNAL1, DNMT1, DSPP, DTNA, ECE1, EDN3, EDNRA, EDNRB, EFEMP2, EFTUD2, ELMOD3, ELN, EPS8, ERCC2, ERCC3, ERCC6, ESPN, ESRRB, EYA1, EYA4, FADD, FAM136A, FAS, FBLN5, FBN1, FBN2, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FKBP14, FLNA, FOXC1, FOXF1, FOXH1, FOXI1, GALNS, GATA3, GATA4, GATA6, GDF1, GDF6, GFER, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLB1, GLI3, GNS, GPC3, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, GSTP1, GUSB, HAL, HAND1, HARS, HARS2, HGF, HGSNAT, HOMER2, HOXA1, HOXA2, HOXB1, HRAS, HSD17B4, HYAL1, IDS, IDUA, IGF1, ILDR1, INVS, IRX5, ITM2B, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIF7, KIT, KITLG, KMT2D, KRAS, LARS2, LHFPL5, LHX3, LOX, LOXHD1, LRP2, LRTOMT, MAFB, MAN2B1, MANBA, MAP2K1, MAP2K2, MARVELD2, MASP1, MED12, MED13L, MEOX1, MEPE, MET, MGP, MITF, MKKS, MKS1, MPZ, MRPS2, MSRB3, MTAP, MTHFR, MYH11, MYH14, MYH6, MYH7B, MYH9, MYLK, MYO15A, MYO18B, MYO1A, MYO1C, MYO1F, MYO3A, MYO5A, MYO6, MYO7A, NAGLU, NARS2, NDP, NDRG1, NEFL, NEK8, NF2, NKX2-5, NKX2-6, NLRP3, NME8, NODAL, NOG, NOTCH1, NPHP3, NR2F1, NR2F2, NRAS, NSD1, NTRK3, OFD1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX2, PAX3, PCARE, PCDH15, PCGF2, PDE1C, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHEX, PHYH, PIK3CA, PIK3R2, PITX2, PJVK, PKD2, PLOD1, PLS3, PMP22, PNPT1, POLD1, POLR1C, POLR1D, POU3F4, POU4F3, PRDM5, PRKCB, PRPS1, PRRX1, PTPN11, PTPRQ, RAF1, RAI1, RBM10, RDX, REST, RIPOR2, RMND1, ROR2, RP1L1, RPGR, RPGRIP1L, RPS6KA3, SALL1, SALL4, SCP2, SEMA3E, SERAC1, SERPINB6, SERPINF1, SGSH, SH3PXD2B, SH3TC2, SHOC2, SIX1, SIX2, SIX5, SKI, SLC12A1, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC2A10, SLC33A1, SLC39A13, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMAD3, SMAD4, SMAD6, SMPX, SNAI2, SOBP, SOS1, SOX10, SOX2, SOX9, SPINK5, STAG2, STRC, SUCLA2, SUCLG1, SYNE4, SYT2, TAB2, TBC1D24, TBL1X, TBX1, TBX20, TBX22, TBX5, TCF21, TCOF1, TCTN2, TECTA, TFAP2A, TGFB2, TGFBR1, TGFBR2, TIMM8A, TJP2, TLL1, TMC1, TMEM126A, TMEM216, TMEM231, TMEM43, TMEM67, TMIE, TMPRSS3, TMPRSS5, TNC, TNFRSF11B, TPRN, TRIM32, TRIOBP, TRMU, TRRAP, TSHZ1, TSPEAR, TTC8, TWNK, TXNL4A, TYR, UBR1, USH1C, USH1G, USH2A, VCAN, WDPCP, WFS1, WHRN, XYLT2, ZFPM2, ZIC3, ZNF469

TRASTORNOS DE MIGRACIÓN NEURONAL: 90 genes – Plazos de entrega: 3-4 semanas

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, CASK, CCND2, CHD7, CLP1, COL18A1, COL4A1, COL4A2, CPT2, CUL4B, DCX, DYNC1H1, EMX2, EOMES, ERMARD, EXOSC3, FAT4, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, GMPPB, GPSM2, IER3IP1, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE1, MACF1, MED12, MEF2C, MPDZ, NDE1, NSDHL, OCLN, OFD1, OPHN1, PAFAH1B1, PAX6, PEX7, PHGDH, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, RXYLT1, SEPSECS, SNAP29, SRD5A3, SRPX2, TBC1D20, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VDAC1, VLDLR, WDR62, YWHAE

TRASTORNOS DEL ESPECTRO AUTISTA (AUTISMO): 318 genes – Plazos de entrega: 3-4 semanas

ACHE, ACSL4, ACTB, ADCY3, ADCY5, ADNP, ADSL, AFF2, AHDC1, ALDH5A1, ALDH7A1, AMT, ANK2, ANK3, ANKRD11, AP1S2, APH1A, ARHGEF6, ARHGEF9, ARID1B, ARX, ASH1L, ASPM, ASXL3, ATP10A, ATRX, AUTS2, AVPR1A, BCKDK, BCL11A, BDNF, BRAF, BRSK2, BRWD3, C12orf4, C12orf57, CACNA1A, CACNA1C, CACNA1D, CACNA2D3, CASK, CC2D1A, CDC42BPB, CDKL5, CELF4, CEP41, CHAMP1, CHD2, CHD3, CHD7, CHD8, CIC, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNOT3, CNTN4, CNTN6, CNTNAP2, CNTNAP5, COL4A3BP, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUX1, CYP27A1, DDC, DDX3X, DEAF1, DHCR7, DHFR, DIP2C, DISC1, DLG4, DLGAP2, DLL1, DMD, DNAJC5, DNMT3A, DOCK4, DPP10, DPP6, DPYD, DSCAM, DYNC1H1, DYRK1A, EFR3A, EHMT1, EIF4E, ELP2, EN2, EP300, FAAH2, FBXO11, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, GABRB3, GAMT, GATM, GCH1, GIGYF2, GRIA1, GRIA2, GRIA3, GRIK4, GRIN1, GRIN2A, GRIN2B, GRIP1, GRN, GRPR, GSPT2, HCN1, HDAC8, HERC2, HIVEP2, HNRNPU, HOXA1, HPRT1, HRAS, HUWE1, IL1RAPL1, IMMP2L, IQSEC2, JMJD1C, KANSL1, KATNAL2, KCNB1, KCND2, KCNJ10, KCNQ2, KCNQ3, KCTD13, KDM5B, KDM5C, KDM6A, KDM6B, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, KRAS, L1CAM, LAMC3, MACROD2, MAGEL2, MAOA, MBD5, MBOAT7, MECP2, MED12, MED13, MED13L, MEF2C, MEIS2, MET, MID1, MYO5A, MYT1L, NAA15, NBEA, NCKAP1, NDP, NEGR1, NEXMIF, NF1, NFIB, NFIX, NHS, NIPBL, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN3, NSD1, NSDHL, NTNG1, OCRL, OPHN1, OXTR, PACS1, PAFAH1B1, PAH, PAK3, PAX5, PCBD1, PCDH11X, PCDH19, PCDH9, PDE10A, PDE4D, PDE8B, PHF21A, PHF3, PHF6, PHIP, PIP5K1B, PLP1, PNKP, PNPO, POGZ, POMGNT1, PON3, PPM1D, PPP2R5D, PPT1, PQBP1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB39B, RAD21, RAF1, RAI1, RBFOX1, RELN, RERE, RFX3, RIMS1, RORA, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SCN9A, SEMA3E, SEMA5A, SETBP1, SETD2, SETD5, SGSH, SHANK2, SHANK3, SLC16A2, SLC18A1, SLC2A1, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC9A6, SLC9A9, SMAD4, SMARCB1, SMARCC2, SMC1A, SMC3, SMG6, SNAP25, SNRPN, SOX5, SPAST, SPR, SRCAP, ST7, STK3, STXBP1, STXBP5, SYN1, SYNGAP1, TAF6, TANC2, TBC1D20, TBCK, TBL1XR1, TBR1, TBX1, TCF4, TCF7L2, TH, TMEM231, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIO, TRIP12, TSC1, TSC2, TUBA1A, UBE2A, UBE3A, UBN2, UPF3B, USP15, USP7, VPS13B, WAC, WDFY3, WDR62, YY1, ZBTB20, ZDHHC9, ZEB2, ZMYND11, ZNF292, ZNF407, ZNF507, ZNF804A, ZNHIT6, ZSWIM6

TRASTORNOS DEL NEURODESARROLLO: 266 genes – Plazos de entrega: 3-4 semanas

ABCD1, ACTB, ACTG1, ADNP, ADSL, AGA, AHCY, AHDC1, ALDH5A1, ALDH7A1, AMER1, ANK2, ANKRD11, AP1S2, ARG1, ARHGEF9, ARID1A, ARID1B, ARID2, ARSA, ARX, ASNS, ASPM, ASXL1, ASXL3, ATP13A2, ATP1A3, ATP7A, ATRX, AUTS2, BCAP31, BCL11A, BRAF, BRAT1, BRD4, BRWD3, CACNA1A, CACNA1E, CASK, CBL, CC2D1A, CC2D2A, CDKL5, CEP290, CHD2, CHD3, CHD7, CHD8, CIC, CLCN4, CLN3, CLN5, CLN6, CNTNAP2, COL4A1, CREBBP, CTCF, CTNNB1, CUL3, CUL4B, DDC, DDX3X, DEAF1, DHCR7, DLG3, DNM1, DNM1L, DNMT3A, DOCK6, DYNC1H1, DYRK1A, EEF1A2, EFTUD2, EHMT1, EP300, EZH2, FBXL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABBR2, GABRB3, GABRG2, GALC, GAMT, GATAD2B, GATM, GLB1, GM2A, GNAO1, GNAS, GNS, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, H3F3A, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNRNPU, HRAS, HUWE1, IDS, IDUA, IGF1R, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNA2, KCNB1, KCNH1, KCNQ2, KCNQ5, KCNT1, KDM5B, KDM5C, KDM6A, KIF1A, KMT2A, KMT2D, KMT2E, KMT5B, KRAS, L1CAM, LZTR1, MAGEL2, MAN1B1, MAP2K1, MAP2K2, MBD5, MECP2, MED12, MED13L, MEF2C, METTL23, MFSD8, MID1, MTOR, NAA10, NAA15, NAGLU, NALCN, NEXMIF, NF1, NFIA, NFIX, NGLY1, NHS, NIPBL, NPC1, NR2F1, NRAS, NRXN1, NSD1, NSUN2, OCRL, OPHN1, OTC, PACS1, PAH, PCBD1, PCDH19, PDHA1, PGAP3, PHF21A, PHF6, PHIP, PLA2G6, PMM2, POGZ, POLG, POLR2A, POU3F3, PPM1D, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PTEN, PTPN11, PTS, PUF60, PURA, QDPR, RAD21, RAF1, RAI1, RBM10, RERE, RIT1, RPS6KA3, SATB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SETBP1, SETD2, SETD5, SGSH, SHANK3, SHOC2, SLC13A5, SLC16A2, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX5, SPAST, SPTAN1, STAG1, STAG2, STXBP1, SURF1, SYNGAP1, TAF1, TBCK, TBL1XR1, TCF4, TELO2, TPP1, TRAPPC9, TRIO, TRIP12, TRRAP, TSC1, TSC2, TUBA1A, TUBB, UBE3A, UNC80, USP9X, VPS13B, WAC, WDR45, WWOX, ZBTB18, ZBTB20, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZMYND11, ZNF292

VENTRICULOMEGALIA: 147 genes – Plazos de entrega: 3-4 semanas

ABCC8, ACADM, ACTA1, ADCY6, AGRN, AIMP1, ALG14, ALG2, ALG3, ASCC1, AUTS2, BICD2, BIN1, C12orf65, CACNA1E, CASK, CDK5, CFL2, CHAT, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CNTNAP1, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, DSE, ECEL1, EGR2, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, EXOSC3, FAM20C, FBN2, FHL1, FIG4, FKBP10, FKTN, FLVCR2, GBA, GBE1, GCK, GFM2, GFPT1, GLE1, GLI3, GMPPB, HSPG2, IBA57, INS, ITGA6, ITGB4, KAT6B, KBTBD13, KCNJ11, KIAA1109, KIF14, KIF1A, KIF5C, KLHL40, KLHL41, LAMB2, LGI4, LMNA, LMOD3, LRP4, MAGEL2, MED13L, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, MYOD1, MYPN, NALCN, NEB, PDX1, PHGDH, PI4KA, PIEZO2, PIP5K1C, PLAGL1, PLEC, PLOD2, PLXND1, PMM2, PPP3CA, PREPL, PSAT1, PSMB8, RAPSN, RARS2, REV3L, RFT1, RIPK4, RYR1, SCN4A, SCO2, SELENON, SLC25A1, SLC35A3, SLC5A7, SLC6A9, SLC9A6, SMN1, SMN2, SNAP25, SOX10, STAC3, STAT3, STIM1, SYNE1, SYT2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRPV4, TSEN2, TSEN54, UBA1, VAMP1, VIPAS39, VPS33B, VRK1, YY1, ZBTB42, ZC4H2, ZFP57, ZMPSTE24, ZNF335

BUSCADOR POR ENFERMEDAD O GEN