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Metabolic diseases

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

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

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

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

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

DISORDERS OF PURINES OR PYRIMIDINES 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

FAMILIAR HYPOBETALIPOPROTEINEMIA: 7 genes – Delivery time: 3-4 weeks

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

FAMILY DYSLIPEMIA: 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

FAMILY HYPERCHOLESTEROLEMIA: 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

FAMILY HYPERTRIGLYCERIDEMIA: 17 genes – Delivery time: 3-4 weeks

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

FATTY ACID OXIDATION SYNDROME: 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

GLOBAL METABOLIC DISEASES: 842 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, PCDH15, 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

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

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

GLYCOGENOSIS: 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

HEMOCHROMATOSIS/HYPERFERRITINEMIA: 8 genes – Delivery time: 3-4 weeks

BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

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

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

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

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

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

HYPERLIPIDEMIAS: 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

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 DISORDERS OF PYRUVATE METABOLISM: 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 DEFICIENCY: 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

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

NON-KETOTIC HYPERGLYCINEMIA/GLYCINE ENCEPHALOPATHY: 13 genes – Delivery time: 3-4 weeks

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

ORGANIC ACIDEMIA 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 DISEASES: 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

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

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

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

UREA CYCLE DEFICIENCY AND HYPERAMONEMIA: 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’S DISEASE AND ALTERATIONS RELATED TO COPPER METABOLISM: 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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