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Errores innatos del metabolismo (panel NGS basado en WES de 834 genes, incluyendo análisis de CNVs)
AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, 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, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMPD1, AMT, ANO10, AOX1, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARSA, ARSB, ARSE, ARSG, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATAD3B, ATIC, ATP13A2, ATP5A1, ATP5B, ATP5C1, ATP5E, ATP5G1, ATP5G2, ATP5G3, ATP5I, ATP5J, ATP5O, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, ATXN7, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, BAAT, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA1, BOLA2, BOLA3, BTD, C12orf65, C19orf12, C1GALT1C1, C1QBP, CA5A, CAD, CARS2, CAT, CBS, CCDC115, CD320, CEP89, CETP, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLPS, CNDP1, CNNM2, COA1, COA3, COA5, COA6, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6B1, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, CP, CPOX, CPS1, CPT1A, CPT2, CSTB, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYCS, CYP27A1, CYP7A1, CYP7B1, D2HGDH, DARS, DARS2, DBH, DBT, DCC, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHODH, DHTKD1, DLAT, DLD, DLST, DMGDH, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPEP1, DPM1, DPM2, DPM3, DPYD, DPYS, DTD1, DYM, EARS2, EBP, ECHS1, ECSIT, EGF, ELAC2, ENO3, EPG5, EPM2A, ERCC6L2, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBP2, FBXL4, FDX2, FDXR, FECH, FGFR2, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FOLR2, FOLR3, FOXRED1, FTCD, FUCA1, FUT8, FXN, FXYD2, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT12, GALNT3, GALT, GAMT, GARS, GATB, GATC, GATM, GBA, GBE1, GCDH, GCH1, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GGT1, GIF, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAL, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPA9, HSPD1, HTRA2, HYAL1, HYKK, IARS2, IBA57, IDH2, IDH3B, IDS, IDUA, IER3IP1, ISCA2, ISCU, ISPD, ITPA, IVD, KARS, KHK, KYNU, L2HGDH, LACTB, LAMP2, LARGE1, LARS, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIPA, LIPC, LIPI, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL40, MRPL44, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSMO1, MTFMT, MTHFD1, MTHFR, MTO1, MTPAP, MTR,, MTRR, MTTP, MUT, MVK, NADK2, NAGA, NAGLU, NAGS, NARS2, NAT8L, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NT5C, NT5C3A, NUBPL, NUP62, NUS1, OAT, OCRL, OGDH, OPA1, OPA3, OPLAH, OTC, OXA1L, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PDXK, PEPD, PET100, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PHYKPL, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PINK1, PITRM1, PLA2G6, PMM2, PMPCA, PNLIP, PNP, PNPLA4, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMT1, POMT2, POP1, POR, PPA2, PPM1B, PPM1K, PPOX, PPT1, PREPL, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PSPH, PTCD1, PTPRZ1, PTS, PUS1, PYCR1, PYGL, PYGM, QARS, QDPR, QRSL1, RANBP2, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROBO3, RPIA, RPL10, RRM2B, RTN4IP1, RYR1, SACS, SAMHD1, SAR1B, SARDH, SARS2, SC5D, SCARB1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SERAC1, SELENBP1, SETX, SFXN4, SGSH, SHPK, SI, SKIV2L, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A2, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC27A5, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC36A2, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SRRT, SSR4, ST3GAL3, ST3GAL5, STAT2, STS, STT3A, STT3B, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUMF1, SUOX, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAT, TAZ, TCN1, TCN2, TDO2, TFR2, TH, TIMM44, TIMM50, TIMM8A, TK2, TM6SF2, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM5, TMEM70, TPK1, TPMT, TPP1, TRAP1, TRAPPC11, TREH, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TXN2, TYMP, UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCC3, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, UROC1, UROD, UROS, USF1, VARS2, VIPAS39, VKORC1, VPS13C, VPS33B, WARS2, WDR45, WFS1, XDH, XPNPEP3, XYLT1, XYLT2, YARS2.
Solicite Ahora


Metodología

NGS


Requisitos de la Muestra


Descriptivo Volumen /
Concentració 1
Tipo de
tubo / soporte
Temperatura de
transporte
Viabilidad de la
muestra (días) 2
ADN ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Ambiente n/a
Sangre periférica ≥ 3 mL EDTA Ambiente 5
1 Cuando no es posible recoger el volumen mínimo para la prueba, por favor póngase en contacto con CGC Genetics
2 Tiempo máximo de envío para asegurar la calidad de la muestra

Tiempo de respuesta (día)

- 60

Especialidades

- Enfermedades raras, Neurología / Neuropediatría, Pediatría, Enfermedades Metabólicas


Referencia CGC

- 5913




Pruebas Asociadas


Enfermedades del movimiento (panel NGS basado en WES de 929 genes, incluyendo análisis de CNVs)
Epilepsia (panel NGS basado en WES de 596 genes, incluyendo análisis de CNVs)
Enfermedades mitocondriales (panel NGS basado en WES de 268 genes, incluyendo análisis de CNVs)
Enfermedades lisosomales y peroxisomales (panel NGS de 108 genes)
Enfermedades lisosomales y peroxisomales (panel NGS basado en WES de 122 genes, incluyendo el análisis de CNVs)