Logo-Dreamgenics
Logo-Dreamgenics

Metabolopathies

Between 1-2 cases per 1,000 newborns suffer from metabolic disorders that, in the absence of adequate treatment, can lead to serious and irreversible problems.
Clinical areas
DG Errores Innatos del Metabolismo
Metabolismo de moléculas pequeñas
Afectación de moléculas complejas
Déficit energético
Documentation
Application form

DG Errores Innatos del Metabolismo I 532 genes

ABAT, ABCA1, ABCB4, ABCC2, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACP2, ACSF3, ACY1, ADA, AGA, AGK, AGL, AGPS, AGXT, AHCY, AKR1D1, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMPD1, AMT, ANTXR2, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APRT, ARG1, ARSA, ARSB, ARSL, ASAH1, ASL, ASPA, ASS1, ATL1, ATL3, ATP13A2, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCAP31, BCKDHA, BCKDHB, BMP2, BTD, C19orf12, C1GALT1C1, CA5A, CACNA1S, CAD, CAT, CBS, CCDC115, CD320, CERS1, CETP, CFTR, CHKB, CHST14, CHST3, CHST6, CHSY1, CLCN1, CLCN5, CLDN16, CLN3, CLN5, CLN6, CLN8, CLPB, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, CP, CPOX, CPS1, CPT1A, CPT2, CRPPA, CSGALNACT1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, CYP27A1, CYP27B1, CYP7A1, CYP7B1, D2HGDH, DAG1, DBT, DDC, DDOST, DHCR24, DHCR7, DHDDS, DHFR, DHRSX, DLAT, DLD, DMP1, DNAJC12, DNAJC19, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYM, EBP, ECHS1, EDEM3, EHHADH, ELOVL4, ELOVL5, ENO3, ENPP1, EOGT, EPHX1, EPHX2, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FBP1, FCSK, FECH, FGF23, FH, FKRP, FKTN, FLAD1, FMO3, FOLR1, FTCD, FTH1, FTL, FUCA1, FUT8, FXYD2, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALNT12, GALNT2, GALNT3, GALT, GAMT, GATM, GBA1, GBE1, GCDH, GCH1, GCSH, GFPT1, GHR, GK, GLA, GLB1, GLDC, GLS, GLUD1, GLUL, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPAA1, GPIHBP1, GRHPR, GRN, GSS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAL, HAMP, HBB, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPX, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HTRA2, HYAL1, IDH2, IDS, IDUA, IVD, KCNA1, KCNE3, KCTD7, KHK, KRT5, L2HGDH, LAMP2, LARGE1, LBR, LCAT, LDHA, LDLR, LDLRAP1, LFNG, LIAS, LIPC, LMBRD1, LMF1, LPIN1, LPL, MAGT1, MAN1B1, MAN2B1, MANBA, MAT1A, MCCC1, MCEE, MCOLN1, MFSD8, MGAT2, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, MOCS2, MOGS, MPDU1, MPI, MSMO1, MTHFR, MTHFS, MTO1, MTR, MTRR, MTTP, MVK, NADK2, NAGA, NAGLU, NAGS, NEU1, NGLY1, NHLRC1, NPC1, NPC2, NSDHL, NUS1, OCRL, OPA3, OTC, OXCT1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PIGA, PIGB, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PKLR, PLA2G6, PMM2, PNP, PNPLA2, PNPLA6, PNPO, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPM1K, PPOX, PPT1, PRDX1, PRKAG2, PRKAG3, PRODH, PSAP, PSENEN, PTS, PYGL, PYGM, QDPR, QPRT, RBCK1, RFT1, RXYLT1, SAR1B, SC5D, SCARB2, SCN4A, SCP2, SEC23B, SELENOI, SERAC1, SGPL1, SGSH, SI, SLC11A2, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC25A4, SLC27A5, SLC2A1, SLC2A2, SLC30A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC5A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SPTLC1, SPTLC2, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUGCT, SUMF1, SUOX, TAFAZZIN, TAT, TCN2, TF, TFR2, TIMM50, TJP2, TKFC, TMEM165, TMEM199, TMPRSS6, TPP1, TRAPPC11, TRIM37, TTPA, TUSC3, UGGT1, UGT1A1, UMPS, UROC1, UROD, UROS, VDR, VPS33A, WDR45, XDH, XYLT1, XYLT2.
Los errores innatos del metabolismo son un grupo de enfermedades raras causadas por defectos genéticos que alteran el metabolismo celular. Un número creciente de estos síndromes son tratables si se diagnostican temprano. Proponemos el estudio de los genes asociados a estas patologías incluyendo las enfermedades recogidas en el programa de cribado neonatal según las recomendaciones de la AEP, AAP y la ACMG.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Trastorno del metabolismo de moléculas pequeñas I 7 estudios

Los trastornos del metabolismo de moléculas pequeñas constituyen un grupo de enfermedades genéticas causadas por alteraciones en enzimas implicadas en rutas metabólicas esenciales que se caracterizan por acumulación de metabolitos tóxicos y clínica intermitente o desencadenada por estrés metabólico. Se incluyen alteraciones en el metabolismo de aminoácidos, ácidos orgánicos, ciclo de la urea y otras moléculas pequeñas como determinados carbohidratos, purinas, pirimidinas y cofactores. Ofrecemos exomas dirigidos para cada uno de ellos.
Amino acid metabolism
ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ALDH5A1, ASPA, AUH, BCKDHA, BCKDHB, BTD, CLPB, D2HGDH, DBT, DNAJC19, ETFA, ETFB, ETFDH, FTCD, GCDH, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HTRA2, IDH2, IVD, L2HGDH, LMBRD1, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MVK, OPA3, OXCT1, PCCA, PCCB, PRDX1, SERAC1, SLC25A1, TAFAZZIN, TIMM50, UROC1.
ALDH4A1, AMT, BCKDHA, BCKDHB, CBS, CTNS, DBT, DLD, FAH, FMO3, GCH1, GCSH, GLDC, GNMT, GSS, HGD, HPD, MAT1A, MTHFR, OCRL, PAH, PCBD1, PHGDH, PPM1K, PRODH, PTS, QDPR, QDPR, SLC25A15, SLC3A1, SLC6A9, SLC7A7, SLC7A9, SLC7A9, SUOX, TAT.
ARG1, ASL, ASS1, CPS1, GLUD1, NAGS, OTC, SLC25A13, SLC25A15.
Metabolismo de carbohidratos
ALDOB, FBP1, KHK.
GALE, GALK1, GALM, GALT, GK.
ADSL, DPYD, HPRT1, UMPS.
ACAD9, ALDH7A1, BTD, CYP27B1, DHFR, ETFDH, FLAD1, FOLR1, FTCD, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MTHFR, MTHFS, MTR, MTRR, PNPO, QPRT, SLC19A2, SLC19A3, SLC46A1, TTPA, VDR.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Trastornos de afectación de moléculas complejas I 6 estudios

Los trastornos por afectación de moléculas complejas comprenden enfermedades genéticas debidas a alteraciones en la síntesis, modificación, tráfico o degradación de macromoléculas y estructuras celulares complejas que suelen seguir un curso crónico y multisistémico. En esta categoría se incluyen las enfermedades lisosomales, peroxisomales, los trastornos congénitos de la glicosilación y las enfermedades por depósito de metales ofreciendo un exoma dirigido para cada uno de ellos.
Enfermedades lisosomales
ACP2, AGA, ARSA, ARSB, ASAH1, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA1, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SCARB2, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, VPS33A.
ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, NEU1, SGSH, VPS33A.
ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1.
ABCD1, ABCD3, ACOX1, AGK, AGPS, AGXT, AMACR, ARSL, BCAP31, CAT, DNM1L, DYM, EBP, EHHADH, FAR1, GNPAT, GRHPR, HOGA1, HSD17B4, NSDHL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37.
ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, CRPPA, CSGALNACT1, DAG1, DDOST, DHDDS, DHRSX, DOLK, DPAGT1, DPM1, DPM2, DPM3, EDEM3, EOGT, EXT1, EXT2, FCSK, FKRP, FKTN, FUT8, G6PC3, GALNT12, GALNT2, GALNT3, GFPT1, GLS, GMPPA, GMPPB, GNE, GORAB, GPAA1, KRT5, LARGE1, LFNG, MAGT1, MAN1B1, MAN2B2, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGB, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PSENEN, RFT1, RXYLT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TRAPPC11, TUSC3, UGGT1, XYLT1, XYLT2.
ATP13A2, ATP7A, ATP7B, BMP2, C19orf12, CP, FA2H, FTH1, FTL, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Trastornos por déficit energético I 4 estudios

El metabolismo energético hace referencia al conjunto de rutas metabólicas que tienen como objetivo generar energía para cubrir las necesidades energéticas del organismo. Mediante los diferentes exomas dirigidos abordamos el estudio de los genes implicados en la glucogenosis, oxidación de los ácidos grasos y trastornos del metabolismo del piruvato. Incluimos también un exoma dirigido para el estudio de trastornos mitocondriales ya que dan lugar a alteraciones en la función de la cadena respiratoria y la fosforilación oxidativa, que comprometen la producción celular de energía y pueden provocar una afectación multisistémica, especialmente en tejidos de alta demanda energética.
AGL, ALDOA, ALDOB, ENO3, EPM2A, FBP1, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4.
ACAD9, ACADM, ACADS, ACADVL, ACAT1, AMPD1, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, MLYCD, SLC25A32.
DLAT, DLD, LIAS, PC, PDHA1, PDHB, PDHX, PDP1.
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOO, APTX, ARMS2, ASS1, ATAD3A, ATIC, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATP7B, ATPAF2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BTD, C19orf12, C1QBP, CA5A, CARS2, CASP8, CAT, CAVIN1, CHCHD10, CHKB, CIAO1, CISD2, CLN3, CLPB, CLPP, COA3, COA5, COA6, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX16, COX20, COX4I2, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CPT1A, CPT1C, CPT2, CYB5A, CYB5R3, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, EHHADH, ELAC2, ENDOG, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FECH, FH, FLAD1, FOXRED1, FXN, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPD2, GPT2, GPX1, GSR, GTPBP3, HADH, HADHA, HADHB, HARS2, HAX1, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS1, KIF1B, KIF5A, L2HGDH, LARS2, LETM1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MDH2, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRM2, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS25, MRPS34, MRPS7, MSRB3, MSTO1, MTFMT, MTHFD1, MTO1, MTPAP, MTRFR, MTRR, MMUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, PAM16, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PHB1, PINK1, PNKD, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PPOX, PRODH, PTCD3, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SOD1, SOD2, SPART, SPG7, SPTLC2, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TFAM, TIMM22, TIMM44, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TMLHE, TOP3A, TPK1, TPP1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTBK2, TTC19, TUFM, TWNK, TXN2, TXNRD2, TYMP, UCP1, UCP3, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROS, VARS2, WARS2, WDR81, WWTR1, XPNPEP3, YARS2, YME1L1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days