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 Inborn Errors of Metabolism
Metabolism of small molecules
The role of complex molecules
Energy deficit
Documentation
Application form

DG Inborn Errors of Metabolism 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.
Inborn errors of metabolism are a group of rare diseases caused by genetic defects that disrupt cellular metabolism. An increasing number of these syndromes are treatable if diagnosed early. We propose the study of the genes associated with these conditions, including the diseases covered by the newborn screening program, in accordance with the recommendations of the AEP, AAP, and ACMG.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Small-Molecule Metabolic Disorder I: 7 studies

Small molecule metabolism disorders constitute a group of genetic diseases caused by defects in enzymes involved in essential metabolic pathways, characterized by the accumulation of toxic metabolites and intermittent symptoms or symptoms triggered by metabolic stress. These include disorders of amino acid metabolism, organic acid metabolism, the urea cycle, and other small molecules such as certain carbohydrates, purines, pyrimidines, and cofactors. We offer targeted exome sequencing for each of these conditions.
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.
Carbohydrate metabolism
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

Disorders Affecting Complex Molecules I: 6 studies

Disorders involving complex molecules encompass genetic diseases caused by abnormalities in the synthesis, modification, trafficking, or degradation of macromolecules and complex cellular structures, which typically follow a chronic and multisystemic course. This category includes lysosomal and peroxisomal diseases, congenital glycosylation disorders, and metal storage diseases, with a targeted exome test available for each of them.
Lysosomal diseases
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

Energy Deficit Disorders I: 4 Studies

Energy metabolism refers to the set of metabolic pathways designed to generate energy to meet the body’s energy needs. Through various targeted exome sequencing tests, we investigate the genes involved in glycogenesis, fatty acid oxidation, and disorders of pyruvate metabolism. We also include a targeted exome panel for the study of mitochondrial disorders, as these lead to alterations in respiratory chain function and oxidative phosphorylation, which compromise cellular energy production and can cause multisystemic involvement, particularly in tissues with high energy demands.
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