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Enfermedades metabólicas

ACIDEMIA GLUTÁRICA: 8 genes – Plazos de entrega: 3-4 semanas

D2HGDH, ETFA, ETFB, ETFDH, GCDH, L2HGDH, LIAS, SUGCT

ACIDEMIA METILMALÓNICA Y HOMOCISTINURIA: 30 genes – Plazos de entrega: 3-4 semanas

ABCD4, ACSF3, ADK, AHCY, ALDH6A1, AMN, CBS, CD320, CTH, CUBN, GIF, GNMT, HCFC1, LMBRD1, MAT1A, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFD1, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN1, TCN2

ACIDEMIA ORGÁNICA Y DEFICIENCIA DE COBALAMINA: 97 genes – Plazos de entrega: 3-4 semanas

ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ADK, AGK, AHCY, ALDH6A1, AMN, ASPA, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, CBS, CD320, CLPB, CPS1, CTH, CUBN, D2HGDH, DBT, DHTKD1, DLD, DNAJC19, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FTCD, GCDH, GIF, GLRX5, GLYCTK, GNMT, GSS, HADHA, HCFC1, HIBCH, HLCS, HMGCL, HSD17B10, HTRA2, IBA57, IDH2, ISCA2, IVD, L2HGDH, LIAS, LIPT1, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, MVK, NFU1, OGDH, OPA3, OPLAH, OXCT1, PCCA, PCCB, PCK1, PEPD, POLG, PPM1K, SERAC1, SLC13A5, SLC25A1, SLC25A19, SLC52A1, SLC52A2, SLC52A3, SUCLA2, SUCLG1, SUGCT, TAZ, TCN1, TCN2, TMEM70, UMPS

ACIDOSIS LACTICA Y TRASTORNOS DEL METABOLISMO DE PIRUVATO: 130 genes – Plazos de entrega: 3-4 semanas

ACAD9, AGK, AIFM1, ALDH2, APTX, ATP5F1E, ATPAF2, BCS1L, BOLA3, BTD, COQ2, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FBXL4, FDX2, FH, FOXRED1, G6PC, GFM1, GLRX5, GYG2, GYS2, HIBCH, HLCS, HMGCL, HTRA2, IBA57, ISCA2, ISCU, LDHB, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, MFF, MPC1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, NUBPL, PC, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SLC19A2, SLC19A3, SLC25A1, SLC25A19, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SUCLG2, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, YARS2

AMINOACIDURIAS: 13 genes – Plazos de entrega: 3-4 semanas

EHHADH, GATM, HNF4A, NDUFAF6, SLC1A1, SLC2A2, SLC34A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9

DEFICIENCIA DE CITOCROMO C OXIDASA: 15 genes – Plazos de entrega: 3-4 semanas

COA5, COA6, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6B1, COX7A1, COX7A2, FASTKD2, SCO1, SCO2, SURF1

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

DEFICIENCIA DE PIRUVATO DESHIDROGENASA: 19 genes – Plazos de entrega: 3-4 semanas

BOLA3, DLAT, DLD, GLRX5, LIAS, LIPT1, MPC1, NADK2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, SLC25A19, TPK1

DEFICIENCIA DEL CICLO DE LA UREA E HIPERAMONEMIA: 85 genes – Plazos de entrega: 3-4 semanas

ABCD4, ACADM, ACADS, ACADVL, ACAT1, ALDH18A1, AMT, ARG1, ASL, ASS1, ATP5F1E, ATPAF2, BCKDHA, BCKDHB, BCS1L, BTD, CA5A, CPS1, CPT1A, CPT2, CYC1, DBT, DLAT, DLD, ETFA, ETFB, ETFDH, FBXL4, GLDC, GLUD1, GLUL, HADH, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, LMBRD1, LYRM7, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MRPS22, MTR, MTRR, MUT, NAGS, NBAS, NR1H4, OAT, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PIGA, PYY, RINT1, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TAZ, TMEM70, TTC19, TUFM, UMPS, UQCRB, UQCRC2, UQCRQ, YARS2

DEFICIENCIA DEL METABOLISMO DE LOS LÍPIDOS: 63 genes – Plazos de entrega: 3-4 semanas

ABCD1, ACACA, ACACB, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACLY, ACOX1, ACP6, ACSF3, ACSL4, ACSM2B, ACSM3, ALDH3A2, BAAT, BTD, CHKB, CPT1A, CPT1B, CPT1C, CPT2, CYP4A11, ECHS1, ECI1, EHHADH, ELOVL4, ELOVL5, FABP1, FABP2, FABP3, FABP7, FADS2, FASN, GPAM, GPD1, GPD2, HADH, HADHA, HADHB, HLCS, HMGCL, HMGCS2, LIPE, MLYCD, OPA3, OXCT1, PECR, PNPLA2, PPARGC1A, PPARGC1B, SCP2, SLC22A5, SLC25A20, SLC27A4, SLC27A5, SLC33A1, TECR, TMLHE

DESÓRDENES CONGÉNITOS DE LA GLICOSILACIÓN: 128 genes – Plazos de entrega: 3-4 semanas

A4GALT, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP2, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CANT1, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, EXTL3, FKRP, FKTN, FUT8, G6PC3, GALNT3, GFPT1, GMPPA, GMPPB, GNE, GNPTAB, GORAB, GOSR2, ISPD, JAGN1, LARGE1, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, OGT, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TGDS, TMEM165, TRAK1, TRAPPC11, TRAPPC2, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2

DESÓRDENES DEL METABOLISMO DE LAS PURINAS O PIRIMIDINAS: 28 genes – Plazos de entrega: 3-4 semanas

ADA, ADSL, AICDA, AK1, AMPD1, ANKH, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, GPHN, HPRT1, IMPDH1, MOCOS, MOCS1, MOCS2, NT5C3A, PNP, PRPS1, REN, SUOX, TPMT, UMOD, UMPS, UPB1, XDH

DISLIPEMIA FAMILIAR: 114 genes – Plazos de entrega: 3-4 semanas

ABCA1, ABCC8, ABCG1, ABCG5, ABCG8, AGL, AGPAT2, AKT2, ALB, ALMS1, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BLK, BSCL2, CAV1, CAVIN1, CEL, CEP19, CETP, CFTR, CIDEC, CREB3L3, CYP27A1, CYP7A1, DYRK1B, EIF2AK3, ELN, ENPP1, EPHX2, FBN1, FOXP3, G6PC, GATA6, GBA, GCK, GCKR, GHR, GK, GLIS3, GPD1, GPIHBP1, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSIG2, INSR, ITIH4, KCNJ11, KLF11, LCAT, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LIPG, LIPI, LMF1, LMNA, LMNB2, LPL, LRP6, MC4R, MEF2A, MTTP, MYLIP, NEUROD1, NEUROG3, NKX2-2, NPC1, NPC1L1, NPC2, PAX4, PCDH15, PCSK9, PDX1, PHKA2, PHKG2, PIGT, PLIN1, PNLIP, PNPLA2, PPARG, PPP1R17, PTF1A, RFX6, SAR1B, SCARB1, SLC22A5, SLC25A13, SLC2A2, SLC37A4, SLCO1B1, SMPD1, SYNE1, SYNE2, TBC1D4, TMEM43, TRIB1, UCP2, USF1, WFS1, ZFP57, ZMPSTE24

ENFERMEDAD DE WILSON Y ALTERACIONES RELACIONADAS CON EL METABOLISMO DEL COBRE: 13 genes – Plazos de entrega: 3-4 semanas

AP1S1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, COG2, CP, PGM1, SCO2, SLC30A10, SLC33A1, SLC3A1, TMPRSS6

ENFERMEDADES LISOSOMALES: 152 genes – Plazos de entrega: 3-4 semanas

ABCC8, ABCD1, ABHD5, ACOX1, ACY1, ADAMTS10, ADAMTSL2, ADSL, AGA, ALDH4A1, ALDH5A1, ALDH7A1, AMACR, AMT, ANTXR2, AP3B1, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BLOC1S3, BLOC1S6, BTD, CHIT1, CLCN5, CLCN7, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, DHCR7, DNAJC5, DNM1L, DPYD, DTNBP1, DYM, ETFA, ETFB, ETFDH, FAR1, FBN1, FH, FIG4, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GCSH, GLA, GLB1, GLDC, GM2A, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GRN, GUSB, HEXA, HEXB, HGSNAT, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSD17B4, HYAL1, IDS, IDUA, KCTD7, KMT2D, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, LMBRD1, LTBP2, LYST, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MLPH, MMP14, MOCS1, MOCS2, MYO5A, MYOT, NAGA, NAGLU, NEU1, NPC1, NPC2, NPR2, OCRL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PNPLA2, PPT1, PRODH, PSAP, QDPR, RAB27A, RAI1, SCARB2, SCP2, SGSH, SLC17A5, SLC25A15, SLC46A1, SLC9A6, SMPD1, SUMF1, SUOX, TCF4, TPP1, TRIM37

ENFERMEDADES METABÓLICAS GLOBAL: 842 genes – Plazos de entrega: 3-4 semanas

A4GALT, ABCA1, ABCB4, ABCC2, ABCC8, ABCD1, ABCD3, ABCD4, ABCG1, ABCG5, ABCG8, ABHD5, ACACA, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACBD5, ACLY, ACOX1, ACP6, ACSF3, ACSL4, ACSM2B, ACSM3, ACY1, ADA, ADAMTS10, ADAMTSL2, ADAR, ADK, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AICDA, AIFM1, AK1, AKR1D1, AKT2, ALAD, ALAS2, ALB, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD1, AMPD3, AMT, ANGPTL3, ANKH, ANO10, ANO5, ANTXR2, AP3B1, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APRT, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATIC, ATM, ATP13A2, ATP2A1, ATP5F1E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCKDHA, BCKDHB, BCS1L, BLK, BLOC1S3, BLOC1S6, BMP2, BOLA3, BRAF, BSCL2, BSND, BTD, BTK, C12orf65, C15orf41, C1GALT1C1, CA2, CA5A, CACNA1S, CANT1, CAPN3, CARD11, CASQ1, CASR, CAT, CAV1, CAV3, CAVIN1, CBS, CD320, CD40, CD40LG, CEL, CEP19, CETP, CHIT1, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CLCN1, CLCN5, CLCN7, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CNNM2, CNNM4, COA5, COA6, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6B1, COX7A1, COX7A2, CPOX, CPS1, CPT1A, CPT1B, CPT1C, CPT2, CREB3L3, CSGALNACT1, CTDP1, CTH, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYC1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, CYP27A1, CYP4A11, CYP7A1, CYP7B1, D2HGDH, DAG1, DARS2, DBT, DDC, DDOST, DGUOK, DHCR7, DHDDS, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMD, DNAJB6, DNAJC19, DNAJC5, DNM1L, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DSE, DSG1, DTNBP1, DYM, DYRK1B, DYSF, EARS2, EBP, ECHS1, ECI1, EGF, EGFR, EHHADH, EIF2AK3, ELAC2, ELN, ELOVL4, ELOVL5, EMD, ENO3, ENPP1, EOGT, EPHX2, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, EXTL3, FABP1, FABP2, FABP3, FABP7, FADS2, FAH, FAM111A, FAR1, FARS2, FASN, FASTKD2, FBN1, FBP1, FBXL4, FDX2, FECH, FGF23, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLNB, FMO3, FOLR1, FOXP3, FOXRED1, FTCD, FTH1, FTL, FUCA1, FUT8, FXYD2, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATA6, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCKR, GCSH, GFM1, GFPT1, GHR, GIF, GK, GLA, GLB1, GLDC, GLIS3, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GOSR2, GPAM, GPC3, GPD1, GPD2, GPHN, GPIHBP1, GRHPR, GRN, GSS, GSTZ1, GUSB, GYG1, GYG2, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HTRA2, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IL6R, IL6ST, IMPDH1, INS, INSIG2, INSR, ISCA2, ISCU, ISPD, ITIH4, IVD, JAGN1, KCNA1, KCNJ10, KCNJ11, KCNJ2, KCTD7, KHK, KLF11, KMT2D, L2HGDH, LAMA2, LAMP2, LARGE1, LCAT, LCT, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LEP, LEPR, LFNG, LIAS, LIPA, LIPC, LIPE, LIPG, LIPI, LIPT1, LMBRD1, LMF1, LMNA, LMNB2, LONP1, LPA, LPIN1, LPL, LRP6, LRPPRC, LTBP2, LYRM4, LYRM7, LYST, MAGT1, MAN1B1, MAN2B1, MANBA, MAT1A, MC4R, MCCC1, MCCC2, MCEE, MCOLN1, MEF2A, MFF, MFN2, MFSD8, MGAT2, MGME1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP14, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRE11, MRPS16, MRPS22, MTFMT, MTHFD1, MTHFR, MTO1, MTR, MTRR, MTTP, MUT, MVK, MYH3, MYLIP, MYO5A, MYOT, NADK2, NAGA, NAGLU, NAGS, NARS2, NBAS, NBN, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEU1, NEUROD1, NEUROG3, NFKBIA, NFS1, NFU1, NGLY1, NHLRC1, NIPA2, NKX2-2, NPC1, NPC1L1, NPC2, NPR2, NR1H4, NT5C3A, NUBPL, OAT, OCRL, OGDH, OGT, OPA1, OPA3, OPLAH, OTC, OXCT1, PAH, PAPSS2, PAX4, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCK2, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PECR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKL, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIK3CD, PIK3R1, PKLR, PLIN1, PMM2, PNLIP, PNP, PNPLA2, PNPO, PNPT1, POFUT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPARG, PPARGC1A, PPARGC1B, PPM1K, PPOX, PPP1R17, PPT1, PRKAG2, PRKAG3, PRKCSH, PRODH, PRPS1, PSAP, PTF1A, PTS, PUS1, PYGL, PYGM, PYY, QDPR, RAB27A, RAI1, RARS2, RBCK1, REN, RFT1, RFX6, RHBDF2, RINT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RPN2, RRM2B, RXYLT1, RYR1, SAMHD1, SAR1B, SARS2, SCARB1, SCARB2, SCN4A, SCO1, SCO2, SCP2, SDHAF1, SEC23A, SEC23B, SEC24D, SEC63, SERAC1, SERPINA1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SI, SIL1, SLC12A3, SLC13A5, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC26A2, SLC27A4, SLC27A5, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SLCO1B1, SLCO1B3, SMPD1, SPG7, SPINK5, SPR, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAC3, STAT3, STT3A, STT3B, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUMF1, SUOX, SURF1, SYNE1, SYNE2, TALDO1, TAT, TAZ, TBC1D4, TCAP, TCF4, TCN1, TCN2, TECR, TFAM, TFR2, TGDS, TIMM44, TIMM8A, TK2, TMEM126A, TMEM165, TMEM43, TMEM70, TMLHE, TNPO3, TPK1, TPMT, TPP1, TRAK1, TRAPPC11, TRAPPC2, TRAPPC9, TREX1, TRIB1, TRIM32, TRIM37, TRIP11, TRMU, TRPM6, TRPM7, TSFM, TTC19, TUFM, TUSC3, TWNK, TYK2, TYMP, UCP2, UGT1A1, UMOD, UMPS, UNG, UPB1, UQCRB, UQCRC2, UQCRQ, UROD, UROS, USF1, VMA21, VPS13B, WFS1, XDH, XYLT1, XYLT2, YARS2, ZFP57, ZMPSTE24

ENFERMEDADES PEROXISOMALES: 31 genes – Plazos de entrega: 3-4 semanas

ABCD1, ABCD3, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37

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

GALE, GALK1, GALT, PGM1, SLC25A13, SLC2A2

GLUCOGENOSIS: 42 genes – Plazos de entrega: 3-4 semanas

ACAT1, AGL, ALDOA, ALDOB, AMPD1, CPT2, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LPIN1, NHLRC1, OXCT1, PC, PCK1, PCK2, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, POLG, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC16A1, SLC2A2, SLC37A4

HIPERCOLESTEROLEMIA FAMILIAR: 24 genes – Plazos de entrega: 3-4 semanas

ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, GPIHBP1, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, LRP6, PCSK9, SCARB1

HIPERFENILALANINEMIA: 7 genes – Plazos de entrega: 3-4 semanas

GCH1, PAH, PCBD1, PTS, QDPR, SLC25A13, SPR

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

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

HIPERLIPIDEMIAS: 41 genes – Plazos de entrega: 3-4 semanas

ABCA1, ABCG5, ABCG8, AGPAT2, AKT2, ALMS1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CAVIN1, CETP, CIDEC, CREB3L3, CYP27A1, GPD1, GPIHBP1, INSIG2, INSR, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPG, LMF1, LMNA, LPL, LRP6, MTTP, PCSK9, PLIN1, PNPLA2, PPARG, SAR1B, ZMPSTE24

HIPERTRIGLICERIDEMIA FAMILIAR: 17 genes – Plazos de entrega: 3-4 semanas

APOA5, APOC2, APOC3, APOE, CREB3L3, GCKR, GPD1, GPIHBP1, INSIG2, LIPC, LIPI, LMF1, LPL, PCDH15, PNPLA2, TRIB1, USF1

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

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, EGFR, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6, TRPM7

MUCOPOLISACARIDOSIS: 25 genes – Plazos de entrega: 3-4 semanas

AGA, ARSB, CTSA, CTSK, FUCA1, GALNS, GLB1, GNE, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, SGSH, SLC17A5, SUMF1

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

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

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 HIPER IgM: 11 genes – Plazos de entrega: 3-4 semanas

AICDA, ATM, BTK, CD40, CD40LG, MRE11, NBN, NFKBIA, PIK3CD, PIK3R1, SH2D1A, UNG

SÍNDROME DE OXIDACIÓN DE ÁCIDOS GRASOS: 47 genes – Plazos de entrega: 3-4 semanas

ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ALDH5A1, ALDOA, CPT1A, CPT1B, CPT2, ECHS1, ETFA, ETFB, ETFDH, GAA, GBE1, GLUD1, GYG1, GYS1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, HSD17B4, LAMP2, LDHA, LPIN1, MLYCD, NADK2, PFKM, PGAM2, PHKA1, PHKB, PPARG, PYGM, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, TAZ

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

ABCD3, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26

TIROSINEMIA: 7 genes – Plazos de entrega: 3-4 semanas

FAH, GSTZ1, HGD, HPD, RHBDF2, SLC25A13, TAT

BUSCADOR POR ENFERMEDAD O GEN