Test 143.
Metabolic diseases

Mutations in panel of 1012 genes


AARS, AARS2, AASS, ABAT, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACACA, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACO2, ACOX1, ACSF3, ACSL4, ACY1, ADA, ADAMTSL2, ADAR, ADCK3, ADCY5, ADK, ADPRHL2, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AIMP1, AIMP2, AK1, AK2, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH1A3, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG10, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALOX12B, ALPL, AMACR, AMN, AMPD1, AMPD3, AMT, ANO10, ANO5, ANTXR2, AP1S1, APOC2, APOE, APOPT1, APPL1, APRT, APTX, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSG, ASAH1, ASL, ASPA, ASS1, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT1, B3GALNT2, B3GALTL, B3GAT3, B3GLCT, B3GNT2, B4GALT1, B4GALT7, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCMO1, BCS1L, BDNF, BLK, BLVRA, BMP2, BOLA3, BPGM, BSCL2, BSND, BTD, C10ORF2, C12orf65, C19orf70, C1GALT1C1, C1QBP, C7orf10, C8orf37, CA5A, CACNA1S, CAD, CANT1, CARS2, CASR, CAT, CAV1, CAV3, CBS, CC2D2A, CCDC115, CCDC28B, CD320, CEL, CEP164, CEP290, CERKL, CERS3, CFTR, CHD2, CHIT1, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CISD2, CLCN1, CLCN2, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CNNM2, CNNM4, COA3, COA5, COA6, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CP, CPOX, CPS1, CPT1A, CPT2, CRAT, CREBBP, CSF1R, CTC1, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CUL4B, CYB5R3, CYC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP7B1, D2HGDH, DAO, DARS, DARS2, DBH, DBT, DCXR, DDC, DDHD1, DDOST, DECR1, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFRL1, DHODH, DLAT, DLD, DMGDH, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DNMT1, DNMT3B, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYRK1B, DYSF, EARS2, EBP, ECHS1, EGF, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELOVL4, EMC1, ENO3, ENPP1, EPHX1, EPHX2, EPM2A, EPRS, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAAH2, FAH, FAM111A, FAM126A, FARS2, FASTKD2, FBP1, FBXL4, FECH, FH, FKRP, FKTN, FLAD1, FLNA, FLNB, FMO3, FOLR1, FOLR2, FOLR3, FOXP3, FOXRED1, FTCD, FUCA1, FUT2, FUT6, FUT8, FXYD2, G6PC, G6PC3, G6PD, GAA, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GATA6, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCLM, GCSH, GEMIN4, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GIF, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS3, GLRA1, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GMPS, GNAS, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOT1, GOT2, GPC3, GPD1, GPD1L, GPHN, GPI, GPIHBP1, GPT, GPX1, GRHPR, GSR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, H6PD, HADH, HADHA, HADHB, HAGH, HAMP, HCFC1, HEPACAM, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBADH, HIBCH, HIKESHI, HK1, HLCS, HMBS, HMGCL, HMGCR, HMGCS2, HMOX1, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HRAS, HS6ST1, HSD11B1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPD1, HTRA1, HYAL1, IBA57, IDH2, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFT172, IFT27, IMPAD1, IMPDH1, INPP5E, INPPL1, INS, INSR, ISCA1, ISCA2, ISCU, ISPD, ITPA, IVD, KARS, KCNA1, KCNJ10, KCNJ11, KCNJ2, KCNT1, KIF5A, KIF7, KLF11, KMT2A, KMT2D, L2HGDH, LAMA2, LAMP2, LARGE, LARGE1, LCAT, LCT, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LEP, LEPR, LFNG, LIAS, LIPA, LIPC, LIPE, LIPT1, LIPT2, LMBRD1, LMNA, LMNB1, LPIN1, LPIN2, LPL, LRAT, LRPPRC, LTC4S, LYRM4, LYRM7, LYST, LZTFL1, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MC4R, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MFF, MFN2, MFNG, MFSD8, MGAT2, MGME1, MINPP1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MSMO1, MTFMT, MTHFD1, MTHFR, MTHFS, MTM1, MTMR2, MTO1, MTR, MT-RNR1, MT-RNR2, MTRR, MTTP, MUT, MVK, MYH3, MYO5A, MYO7A, MYOT, NACC1, NAGA, NAGLU, NAGS, NANS, NARS2, NAT8L, NAXD, NAXE, NBAS, NDN, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEUROD1, NEUROG3, NFU1, NGLY1, NHLRC1, NIPA2, NKX6-2, NMNAT1, NNT, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPL, NR0B2, NSD1, NSDHL, NT5C3A, NT5E, NTRK2, NUBPL, NUS1, OAT, OCLN, OCRL, OFD1, OGDH, OPA1, OPA3, OPLAH, OTC, OXCT1, PAH, PANK2, PAX4, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCNT, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGK1, PGM1, PHF6, PHGDH, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R1, PIK3R2, PIK3R5, PIKFYVE, PIP5K1C, PKLR, PLA2G5, PLA2G6, PLA2G7, PLAA, PLCB1, PLCB4, PLCD1, PLCE1, PLCG2, PLEKHG2, PLIN1, PLOD1, PLOD2, PLOD3, PLP1, PMM2, PMPCA, PMPCB, PNLIP, PNMT, PNP, PNPLA2, PNPLA6, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POLR3K, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPA2, PPARG, PPM1K, PPOX, PPT1, PRKAG2, PRKAG3, PRODH, PROM1, PRPH2, PRPS1, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTGIS, PTPN11, PTRF, PTS, PUS1, PYCR1, PYCR2, PYGL, PYGM, QARS, QDPR, RAB11B, RAB23, RAI1, RARS, RARS2, RBCK1, RBSN, RDH12, RDH5, REN, REPS1, RFT1, RFX6, RHO, RLBP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPE65, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RYR1, RYR3, SAMHD1, SARDH, SARS2, SAT1, SC5D, SCARB2, SCD, SCN4A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHD, SEC23B, SENP1, SEPSECS, SERAC1, SERPINA1, SFXN4, SGSH, SI, SIM1, SLC12A3, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC36A2, SLC37A4, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SMS, SNORD118, SOD1, SOX10, SPG11, SPG7, SPR, SPTAN1, SPTLC1, SPTLC2, SRD5A2, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAR, STN1, STS, STT3A, STT3B, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUMF1, SUOX, SURF1, SYTL2, TACO1, TALDO1, TANGO2, TARS2, TAT, TAZ, TBC1D4, TBCD, TBCK, TBXAS1, TCF4, TCIRG1, TCN1, TCN2, TECR, TFAM, TFR2, TGFB1, TH, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM106B, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM5, TMEM67, TMEM70, TMLHE, TOP3A, TPI1, TPK1, TPMT, TPP1, TRAPPC12, TRAPPC6B, TRAPPC9, TREH, TREM2, TREX1, TRIM32, TRIM37, TRIT1, TRMT10C, TRMT5, TRPM6, TSFM, TTC19, TTC21B, TTC8, TUBB4A, TUFM, TUSC3, TWNK, TXN2, TYMP, TYR, TYROBP, TYRP1, UBTF, UCP2, UCP3, UFC1, UFM1, UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, UROS, VARS, VARS2, VPS11, VPS13B, VPS33A, WARS2, WDPCP, WDR45, WDR45B, WFS1, XDH, YARS2, ZFP57, ZFYVE26, ZMPSTE24, ZNHIT3
Order Online:
---
---
Test Price:
1600 BGN
Deadline:
50 working days