NeoPainel para Errores innatos del metabolismo

Este panel analiza un conjunto amplio de genes asociados a errores innatos del metabolismo (EIM), incluidas enfermedades lisosomales, mitocondriales, de ácidos orgánicos, aminoácidos, carbohidratos, lípidos y otras vías metabólicas.

Aplicaciones

Enfermedades raras y hereditarias.

Muestras aceptadas

Sangre periférica (preferido), Hisopo bucal, ADN extraído

Plazo estimado

Estándar · 30 días naturales, después de la aceptación de la muestra Rápido · 15 días naturales, después de la aceptación de la muestra

Método de secuenciación

Secuenciación de nueva generación (NGS) del exoma, con análisis dirigido a los genes del panel.

Alcance analítico

Análisis de los genes indicados, asociados a errores innatos del metabolismo, a partir de datos del exoma y conforme a los criterios técnicos validados por el laboratorio.

Genes analizados

763 genes analizados.

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AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAR, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHCY, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, ARG1, ARSA, ARSB, ARSG, ARSK, ARSL, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, BAAT, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CAT, CBLIF, CBS, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA6, COA7, COA8, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX5A, COX6A1, COX6B1, COX7B, COXFA4, CP, CPOX, CPS1, CPT1A, CPT2, CREB3L3, CRLS1, CRPPA, CSGALNACT1, CTH, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS1, DARS2, DBH, DBT, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHFR, DHODH, DHRSX, DHTKD1, DLAT, DLD, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, EDEM3, EHBP1L1, ELAC2, ENO3, EOGT, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FARS2, FASTKD2, FBP1, FBXL4, FCSK, FDX2, FDXR, FECH, FGFR2, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GARS1, GATM, GBA1, GBE1, GCDH, GCH1, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPD1, GPHN, GPIHBP1, GRHPR, GRN, GSS, GSTZ1, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPA9, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISCA1, ISCA2, ISCU, ITPA, IVD, KARS1, KYNU, L2HGDH, LAMP2, LARGE1, LARS1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LMF1, LONP1, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSMO1, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFR, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTR, MTRFR, MT-RNR1, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MVK, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NSUN3, NT5C3A, NT5E, NUBPL, NUS1, OAT, OCRL, OGDH, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PINK1, PLA2G6, PMM2, PMPCA, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPA2, PPOX, PPT1, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PTCD3, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, QRSL1, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RPL10, RRM2B, RTN4IP1, RXYLT1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SETX, SFXN4, SGSH, SHMT2, SI, SKIC2, SKIC3, SLC12A3, SLC13A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSBP1, SSR4, ST3GAL3, ST3GAL5, STS, STT3A, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TAFAZZIN, TALDO1, TANGO2, TARS2, TAT, TCN2, TFAM, TFR2, TH, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM165, TMEM70, TOP3A, TPK1, TPP1, TRAP1, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTPA, TUFM, TUSC3, TWNK, TYMP, UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCRB, UQCRC2, UQCRFS1, UROD, UROS, VARS2, VIPAS39, VKORC1, VMA12, VMA22, VPS16, VPS33A, VPS33B, WARS2, WDR45, WFS1, XDH, XPNPEP3, XYLT1, XYLT2, YARS2

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