Comprehensive Inherited Metabolic Disorders

More than 300 metabolic disorders are currently known to have genetic origins. These disorders often result from the body either failing to produce a necessary enzyme or creating one that malfunctions, leading to the accumulation of toxic substances or the absence of critical products required for normal metabolism. This can affect various bodily functions, causing a broad range of symptoms. Although the effects vary, common symptoms of many metabolic disorders include poor feeding or irregular appetite, lethargy, jaundice, digestive issues, abnormal weight regulation, seizures, developmental delays, and abdominal pain. Additionally, there are subtle warning signs, such as high blood pressure, high cholesterol, and elevated triglycerides, which may go unnoticed.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:795 AARS2, AASS, ABCA1, ABCB11, ABCB4, ABCB7, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAA1, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAMTSL2, ADAR, ADK, ADSL, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AHCY, AIFM1, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMPD1, AMT, ANO10, ANO5, ANTXR2, AP1S1, AP4M1, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASNS, ASPA, ASS1, ATAD1, ATAD3A, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BSCL2, BSND, BTD, C12orf65, C19orf12, C19orf70, C1QBP, CA2, CA5A, CACNA1S, CAD, CARS2, CASR, CAT, CAV1, CAV3, CAVIN1, CBS, CCDC115, CD320, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CISD2, CKMT1A, CKMT1B, CKMT2, CLCN1, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM1, CNNM2, CNNM4, COA6, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT1B, CPT2, CRAT, CRLS1, CSGALNACT1, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS, DARS2, DBH, DBT, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DLAT, DLD, DMPK, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYSF, EARS2, EBP, ECHS1, EGF, ELAC2, ENO3, EOGT, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FAM111A, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FDXR, FECH, FH, FKRP, FKTN, FLAD1, FLNA, FLNB, FMO3, FOLR1, FOXRED1, FTCD, FTL, FUCA1, FUT8, FXN, FXYD2, G6PC, G6PC3, GAA, GABRG2, GAD1, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GIF, GK, GLA, GLB1, GLDC, GLRA1, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPC3, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HPS1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INSR, ISCA1, ISCA2, ISCU, ISPD, ITPA, IVD, KCNA1, KCNJ10, KCNJ11, KCNJ2, KCTD7, KIF1A, KYNU, L2HGDH, LAMA2, LAMP2, LARGE1, LARS, LARS2, LCAT, LCT, LDB3, LDHA, LDLR, LDLRAP1, LETM1, LIAS, LIPA, LIPE, LIPT1, LIPT2, LMBRD1, LMNA, 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, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MSMO1, MSTO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MTTP, MUT, MVK, MYOT, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, 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, NIPA2, NNT, NPC1, NPC2, NSDHL, NSUN3, NT5C3A, NUBPL, OAT, OCRL, OGDH, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, 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, PHKG1, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGS, PIGT, PIGV, PINK1, PLA2G6, PLIN1, PLPBP, PMM2, PMPCA, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPA2, PPARG, PPM1K, PPOX, PPT1, PRDX1, PRKAG2, PRKAG3, PRODH, PRPS1, PSAP, PSAT1, PSPH, PTF1A, PTS, PUS1, PYGL, PYGM, PYY, QDPR, QRSL1, RAI1, RARS2, RBCK1, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RPL10, RPN2, RRM2B, RTN4IP1, RXYLT1, RYR1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCN4A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SERPINA1, SETX, SFXN4, SGSH, SHMT2, SI, SKIV2L, SLC12A3, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A1, SLC19A2, SLC19A3, SLC1A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A2, SLC41A3, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSBP1, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAT, TAZ, TBC1D4, TCF4, TCN1, TCN2, TFAM, TFR2, TH, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM70, TOP3A, TPI1, TPK1, TPMT, TPP1, TREX1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TRPM7, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TYMP, UCP2, UGT1A1, UMPS, UPB1, UQCC2, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROD, UROS, VARS2, VIPAS39, VKORC1, VPS33B, WARS2, WDR45, WFS1, XDH, XYLT2, YARS2, ZMPSTE24