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

Ophthalmology panel is carefully designed to find the genetic basis of eye diseases, including those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early-onset retinitis pigmentosa), and adults (pattern dystrophy). Our panel includes the most common ophthalmology diseases, such as congenital glaucoma, retinitis pigmentosa, Stargardt disease, Stickler syndrome, achromatopsia, and Usher syndrome, among others. It also screens for different types of albinism (oculocutaneous and ocular) as well as Hermasky-Pudlak syndrome.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:450 ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASB10, ATF6, ATOH7, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP418, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, DGUOK, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, EYS, FAM126A, FAM161A, FDXR, FLVCR1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTRFR, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POC1B, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, ZIC2, ZNF408, ZNF423, ZNF513