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Metabolic diseases

AMINOACIDURIAS: 13 genes – Delivery time: 3-4 weeks

EHHADH, GATM, HNF4A, NDUFAF6, SLC1A1, SLC2A2, SLC34A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9

CONGENITAL DISORDERS OF GLYCOSYLATION: 128 genes – Delivery time: 3-4 weeks

A4GALT, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP2, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CANT1, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, EXTL3, FKRP, FKTN, FUT8, G6PC3, GALNT3, GFPT1, GMPPA, GMPPB, GNE, GNPTAB, GORAB, GOSR2, ISPD, JAGN1, LARGE1, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, OGT, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TGDS, TMEM165, TRAK1, TRAPPC11, TRAPPC2, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2

CYTOCHROME C OXIDASE DEFICIENCY: 15 genes – Delivery time: 3-4 weeks

COA5, COA6, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6B1, COX7A1, COX7A2, FASTKD2, SCO1, SCO2, SURF1

DISORDER OF PURINE OR PYRIMIDINE METABOLISM: 28 genes – Delivery time: 3-4 weeks

ADA, ADSL, AICDA, AK1, AMPD1, ANKH, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, GPHN, HPRT1, IMPDH1, MOCOS, MOCS1, MOCS2, NT5C3A, PNP, PRPS1, REN, SUOX, TPMT, UMOD, UMPS, UPB1, XDH

DYSLIPIDEMIA: 114 genes – Delivery time: 3-4 weeks

ABCA1, ABCC8, ABCG1, ABCG5, ABCG8, AGL, AGPAT2, AKT2, ALB, ALMS1, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BLK, BSCL2, CAV1, CAVIN1, CEL, CEP19, CETP, CFTR, CIDEC, CREB3L3, CYP27A1, CYP7A1, DYRK1B, EIF2AK3, ELN, ENPP1, EPHX2, FBN1, FOXP3, G6PC, GATA6, GBA, GCK, GCKR, GHR, GK, GLIS3, GPD1, GPIHBP1, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSIG2, INSR, ITIH4, KCNJ11, KLF11, LCAT, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LIPG, LIPI, LMF1, LMNA, LMNB2, LPL, LRP6, MC4R, MEF2A, MTTP, MYLIP, NEUROD1, NEUROG3, NKX2-2, NPC1, NPC1L1, NPC2, PAX4, PCDH15, PCSK9, PDX1, PHKA2, PHKG2, PIGT, PLIN1, PNLIP, PNPLA2, PPARG, PPP1R17, PTF1A, RFX6, SAR1B, SCARB1, SLC22A5, SLC25A13, SLC2A2, SLC37A4, SLCO1B1, SMPD1, SYNE1, SYNE2, TBC1D4, TMEM43, TRIB1, UCP2, USF1, WFS1, ZFP57, ZMPSTE24

FATTY ACID OXIDATION DISORDERS: 47 genes – Delivery time: 3-4 weeks

ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ALDH5A1, ALDOA, CPT1A, CPT1B, CPT2, ECHS1, ETFA, ETFB, ETFDH, GAA, GBE1, GLUD1, GYG1, GYS1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, HSD17B4, LAMP2, LDHA, LPIN1, MLYCD, NADK2, PFKM, PGAM2, PHKA1, PHKB, PPARG, PYGM, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, TAZ

GALACTOSEMIA: 6 genes – Delivery time: 3-4 weeks

GALE, GALK1, GALT, PGM1, SLC25A13, SLC2A2

GLUTARIC ACIDEMIA: 8 genes – Delivery time: 3-4 weeks

D2HGDH, ETFA, ETFB, ETFDH, GCDH, L2HGDH, LIAS, SUGCT

GLYCOGEN STORAGE DISEASE: 42 genes – Delivery time: 3-4 weeks

ACAT1, AGL, ALDOA, ALDOB, AMPD1, CPT2, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LPIN1, NHLRC1, OXCT1, PC, PCK1, PCK2, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, POLG, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC16A1, SLC2A2, SLC37A4

HIPER-IgE SYNDROME (HYPERIMMUNOGLOBULINEMIA E): 9 genes – Delivery time: 3-4 weeks

CARD11, DOCK8, DSG1, IL6R, IL6ST, PGM3, SPINK5, STAT3, TYK2

HOMOCYSTINURIA: 6 genes – Delivery time: 3-4 weeks

CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

HYPER-IgM SYNDROME: 11 genes – Delivery time: 3-4 weeks

AICDA, ATM, BTK, CD40, CD40LG, MRE11, NBN, NFKBIA, PIK3CD, PIK3R1, SH2D1A, UNG

HYPERCHOLESTEROLEMIA, FAMILIAL: 24 genes – Delivery time: 3-4 weeks

ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, GPIHBP1, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, LRP6, PCSK9, SCARB1

HYPERGLYCINEMIA, NONKETOTIC/GLYCINE ENCEPHALOPATHY: 13 genes – Delivery time: 3-4 weeks

AMT, BOLA3, DLD, GCSH, GLDC, GLRX5, IBA57, ISCA2, LIAS, LIPT1, NFU1, PNPO, SLC6A9

HYPERLIPEMIA: 41 genes – Delivery time: 3-4 weeks

ABCA1, ABCG5, ABCG8, AGPAT2, AKT2, ALMS1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CAVIN1, CETP, CIDEC, CREB3L3, CYP27A1, GPD1, GPIHBP1, INSIG2, INSR, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPG, LMF1, LMNA, LPL, LRP6, MTTP, PCSK9, PLIN1, PNPLA2, PPARG, SAR1B, ZMPSTE24

HYPERPHENYLALANINEMIA: 7 genes – Delivery time: 3-4 weeks

GCH1, PAH, PCBD1, PTS, QDPR, SLC25A13, SPR

HYPERTRIGLYCERIDEMIA, FAMILIAL: 17 genes – Delivery time: 3-4 weeks

APOA5, APOC2, APOC3, APOE, CREB3L3, GCKR, GPD1, GPIHBP1, INSIG2, LIPC, LIPI, LMF1, LPL, PCDH15, PNPLA2, TRIB1, USF1

HYPOBETALIPOPROTEINEMIA, FAMILIAL: 7 genes – Delivery time: 3-4 weeks

ANGPTL3, APOB, APOC3, MTTP, MYLIP, NPC1L1, PCSK9

HYPOMAGNESEMIA: 21 genes – Delivery time: 3-4 weeks

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, EGFR, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6, TRPM7

LACTIC ACIDOSIS AND PYRUVATE METABOLISM DISORDERS: 130 genes – Delivery time: 3-4 weeks

ACAD9, AGK, AIFM1, ALDH2, APTX, ATP5F1E, ATPAF2, BCS1L, BOLA3, BTD, COQ2, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FBXL4, FDX2, FH, FOXRED1, G6PC, GFM1, GLRX5, GYG2, GYS2, HIBCH, HLCS, HMGCL, HTRA2, IBA57, ISCA2, ISCU, LDHB, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, MFF, MPC1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, NUBPL, PC, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SLC19A2, SLC19A3, SLC25A1, SLC25A19, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SUCLG2, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, YARS2

LIPID METABOLISM DEFECTS: 63 genes – Delivery time: 3-4 weeks

ABCD1, ACACA, ACACB, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACLY, ACOX1, ACP6, ACSF3, ACSL4, ACSM2B, ACSM3, ALDH3A2, BAAT, BTD, CHKB, CPT1A, CPT1B, CPT1C, CPT2, CYP4A11, ECHS1, ECI1, EHHADH, ELOVL4, ELOVL5, FABP1, FABP2, FABP3, FABP7, FADS2, FASN, GPAM, GPD1, GPD2, HADH, HADHA, HADHB, HLCS, HMGCL, HMGCS2, LIPE, MLYCD, OPA3, OXCT1, PECR, PNPLA2, PPARGC1A, PPARGC1B, SCP2, SLC22A5, SLC25A20, SLC27A4, SLC27A5, SLC33A1, TECR, TMLHE

LYSOSOMAL DISEASES: 152 genes – Delivery time: 3-4 weeks

ABCC8, ABCD1, ABHD5, ACOX1, ACY1, ADAMTS10, ADAMTSL2, ADSL, AGA, ALDH4A1, ALDH5A1, ALDH7A1, AMACR, AMT, ANTXR2, AP3B1, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BLOC1S3, BLOC1S6, BTD, CHIT1, CLCN5, CLCN7, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, DHCR7, DNAJC5, DNM1L, DPYD, DTNBP1, DYM, ETFA, ETFB, ETFDH, FAR1, FBN1, FH, FIG4, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GCSH, GLA, GLB1, GLDC, GM2A, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GRN, GUSB, HEXA, HEXB, HGSNAT, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSD17B4, HYAL1, IDS, IDUA, KCTD7, KMT2D, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, LMBRD1, LTBP2, LYST, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MLPH, MMP14, MOCS1, MOCS2, MYO5A, MYOT, NAGA, NAGLU, NEU1, NPC1, NPC2, NPR2, OCRL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PNPLA2, PPT1, PRODH, PSAP, QDPR, RAB27A, RAI1, SCARB2, SCP2, SGSH, SLC17A5, SLC25A15, SLC46A1, SLC9A6, SMPD1, SUMF1, SUOX, TCF4, TPP1, TRIM37

METABOLIC DISORDERS, COMPRENHENSIVE: 841 genes – Delivery time: 3-4 weeks

A4GALT, ABCA1, ABCB4, ABCC2, ABCC8, ABCD1, ABCD3, ABCD4, ABCG1, ABCG5, ABCG8, ABHD5, ACACA, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACBD5, ACLY, ACOX1, ACP6, ACSF3, ACSL4, ACSM2B, ACSM3, ACY1, ADA, ADAMTS10, ADAMTSL2, ADAR, ADK, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AICDA, AIFM1, AK1, AKR1D1, AKT2, ALAD, ALAS2, ALB, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD1, AMPD3, AMT, ANGPTL3, ANKH, ANO10, ANO5, ANTXR2, AP3B1, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APRT, APTX, ARG1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATIC, ATM, ATP13A2, ATP2A1, ATP5F1E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCKDHA, BCKDHB, BCS1L, BLK, BLOC1S3, BLOC1S6, BMP2, BOLA3, BRAF, BSCL2, BSND, BTD, BTK, C12orf65, C15orf41, C1GALT1C1, CA2, CA5A, CACNA1S, CANT1, CAPN3, CARD11, CASQ1, CASR, CAT, CAV1, CAV3, CAVIN1, CBS, CD320, CD40, CD40LG, CEL, CEP19, CETP, CHIT1, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CLCN1, CLCN5, CLCN7, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CNNM2, CNNM4, COA5, COA6, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6B1, COX7A1, COX7A2, CPOX, CPS1, CPT1A,CPT1B, CPT1C, CPT2, CREB3L3, CSGALNACT1, CTDP1, CTH, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYC1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, CYP27A1, CYP4A11, CYP7A1, CYP7B1, D2HGDH, DAG1, DARS2, DBT, DDC, DDOST, DGUOK, DHCR7, DHDDS, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMD, DNAJB6, DNAJC19, DNAJC5, DNM1L, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DSE, DSG1, DTNBP1, DYM, DYRK1B, DYSF, EARS2, EBP, ECHS1, ECI1, EGF, EGFR, EHHADH, EIF2AK3, ELAC2, ELN, ELOVL4, ELOVL5, EMD, ENO3, ENPP1, EOGT, EPHX2, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, EXTL3, FABP1, FABP2, FABP3, FABP7, FADS2, FAH, FAM111A, FAR1, FARS2, FASN, FASTKD2, FBN1, FBP1, FBXL4, FDX2, FECH, FGF23, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLNB, FMO3, FOLR1, FOXP3, FOXRED1, FTCD, FTH1, FTL, FUCA1, FUT8, FXYD2, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATA6, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCKR, GCSH, GFM1, GFPT1, GHR, GIF, GK, GLA, GLB1, GLDC, GLIS3, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GOSR2, GPAM, GPC3, GPD1, GPD2, GPHN, GPIHBP1, GRHPR, GRN, GSS, GSTZ1, GUSB, GYG1, GYG2, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HTRA2, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IL6R, IL6ST, IMPDH1, INS, INSIG2, INSR, ISCA2, ISCU, ISPD, ITIH4, IVD, JAGN1, KCNA1, KCNJ10, KCNJ11, KCNJ2, KCTD7, KHK, KLF11, KMT2D, L2HGDH, LAMA2, LAMP2, LARGE1, LCAT, LCT, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LEP, LEPR, LFNG, LIAS, LIPA, LIPC, LIPE, LIPG, LIPI, LIPT1, LMBRD1, LMF1, LMNA, LMNB2, LONP1, LPA, LPIN1, LPL, LRP6, LRPPRC, LTBP2, LYRM4, LYRM7, LYST, MAGT1, MAN1B1, MAN2B1, MANBA, MAT1A, MC4R, MCCC1, MCCC2, MCEE, MCOLN1, MEF2A, MFF, MFN2, MFSD8, MGAT2, MGME1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP14, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRE11, MRPS16, MRPS22, MTFMT, MTHFD1, MTHFR, MTO1, MTR, MTRR, MTTP, MUT, MVK, MYH3, MYLIP, MYO5A, MYOT, NADK2, NAGA, NAGLU, NAGS, NARS2, NBAS, NBN, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEU1, NEUROD1, NEUROG3, NFKBIA, NFS1, NFU1, NGLY1, NHLRC1, NIPA2, NKX2- 2, NPC1, NPC1L1, NPC2, NPR2, NR1H4, NT5C3A, NUBPL, OAT, OCRL, OGDH, OGT, OPA1, OPA3, OPLAH, OTC, OXCT1, PAH, PAPSS2, PAX4, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCSK9, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PECR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKL, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIK3CD, PIK3R1, PKLR, PLIN1, PMM2, PNLIP, PNP, PNPLA2, PNPO, PNPT1, POFUT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPARG, PPARGC1A, PPARGC1B, PPM1K, PPOX, PPP1R17, PPT1, PRKAG2, PRKAG3, PRKCSH, PRODH, PRPS1, PSAP, PTF1A, PTS, PUS1, PYGL, PYGM, PYY, QDPR, RAB27A, RAI1, RARS2, RBCK1, REN, RFT1, RFX6, RHBDF2, RINT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RPN2, RRM2B, RXYLT1, RYR1, SAMHD1, SAR1B, SARS2, SCARB1, SCARB2, SCN4A, SCO1, SCO2, SCP2, SDHAF1, SEC23A, SEC23B, SEC24D, SEC63, SERAC1, SERPINA1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SI, SIL1, SLC12A3, SLC13A5, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC26A2, SLC27A4, SLC27A5, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SLCO1B1, SLCO1B3, SMPD1, SPG7, SPINK5, SPR, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAC3, STAT3, STT3A, STT3B, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUMF1, SUOX, SURF1, SYNE1, SYNE2, TALDO1, TAT, TAZ, TBC1D4, TCAP, TCF4, TCN1, TCN2, TECR, TFAM, TFR2, TGDS, TIMM44, TIMM8A, TK2, TMEM126A, TMEM165, TMEM43, TMEM70, TMLHE, TNPO3, TPK1, TPMT, TPP1, TRAK1, TRAPPC11, TRAPPC2, TRAPPC9, TREX1, TRIB1, TRIM32, TRIM37, TRIP11, TRMU, TRPM6, TRPM7, TSFM, TTC19, TUFM, TUSC3, TWNK, TYK2, TYMP, UCP2, UGT1A1, UMOD, UMPS, UNG, UPB1, UQCRB, UQCRC2, UQCRQ, UROD, UROS, USF1, VMA21, VPS13B, WFS1, XDH, XYLT1, XYLT2, YARS2, ZFP57, ZMPSTE24

METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA: 30 genes – Delivery time: 3-4 weeks

ABCD4, ACSF3, ADK, AHCY, ALDH6A1, AMN, CBS, CD320, CTH, CUBN, GIF, GNMT, HCFC1, LMBRD1, MAT1A, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFD1, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN1, TCN2

MITOCHONDRIAL DNA DEPLETION SYNDROME: 27 genes – Delivery time: 3-4 weeks

AGK, APTX, AUH, C12orf65, DGUOK, FBXL4, MFN2, MGME1, MPV17, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TFAM, TIMM8A, TK2, TMEM126A, TWNK, TYMP, WFS1

MUCOPOLYSACCHARIDOSIS: 25 genes – Delivery time: 3-4 weeks

AGA, ARSB, CTSA, CTSK, FUCA1, GALNS, GLB1, GNE, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, SGSH, SLC17A5, SUMF1

ORGANIC ACIDEMIA/ACIDURIA AND COBALAMIN DEFICIENCY: 97 genes – Delivery time: 3-4 weeks

ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ADK, AGK, AHCY, ALDH6A1, AMN, ASPA, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, CBS, CD320, CLPB, CPS1, CTH, CUBN, D2HGDH, DBT, DHTKD1, DLD, DNAJC19, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FTCD, GCDH, GIF, GLRX5, GLYCTK, GNMT, GSS, HADHA, HCFC1, HIBCH, HLCS, HMGCL, HSD17B10, HTRA2, IBA57, IDH2, ISCA2, IVD, L2HGDH, LIAS, LIPT1, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, MVK, NFU1, OGDH, OPA3, OPLAH, OXCT1, PCCA, PCCB, PCK1, PEPD, POLG, PPM1K, SERAC1, SLC13A5, SLC25A1, SLC25A19, SLC52A1, SLC52A2, SLC52A3, SUCLA2, SUCLG1, SUGCT, TAZ, TCN1, TCN2, TMEM70, UMPS

PEROXISOMAL DISORDERS: 31 genes – Delivery time: 3-4 weeks

ABCD1, ABCD3, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37

PORPHYRIAS, HEREDITARY: 11 genes – Delivery time: 3-4 weeks

ALAD, ALAS2, C15orf41, CPOX, FECH, HFE, HMBS, PPOX, SLC19A2, UROD, UROS

PYRUVATE DEHYDROGENASE DEFICIENCY: 19 genes – Delivery time: 3-4 weeks

BOLA3, DLAT, DLD, GLRX5, LIAS, LIPT1, MPC1, NADK2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, SLC25A19, TPK1

Q10 COENZYME DEFICIENCY: 16 genes – Delivery time: 3-4 weeks

ANO10, APTX, BRAF, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, ETFA, ETFB, ETFDH, MVK, PDSS1, PDSS2

TYROSINEMIA: 7 genes – Delivery time: 3-4 weeks

FAH, GSTZ1, HGD, HPD, RHBDF2, SLC25A13, TAT

UREA CYCLE DISORDERS AND HYPERAMMONEMIA: 85 genes – Delivery time: 3-4 weeks

ABCD4, ACADM, ACADS, ACADVL, ACAT1, ALDH18A1, AMT, ARG1, ASL, ASS1, ATP5F1E, ATPAF2, BCKDHA, BCKDHB, BCS1L, BTD, CA5A, CPS1, CPT1A, CPT2, CYC1, DBT, DLAT, DLD, ETFA, ETFB, ETFDH, FBXL4, GLDC, GLUD1, GLUL, HADH, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, LMBRD1, LYRM7, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MRPS22, MTR, MTRR, MUT, NAGS, NBAS, NR1H4, OAT, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PIGA, PYY, RINT1, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TAZ, TMEM70, TTC19, TUFM, UMPS, UQCRB, UQCRC2, UQCRQ, YARS2

WILSON DISEASE AND RELATED COPPER DISORDERS: 13 genes – Delivery time: 3-4 weeks

AP1S1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, COG2, CP, PGM1, SCO2, SLC30A10, SLC33A1, SLC3A1, TMPRSS6

ZELLWEGER SYNDROME: 14 genes – Delivery time: 3-4 weeks

ABCD3, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26

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