Skip to main content
Hours: 8:00 to 19:00 Contact

Mitochondrial diseases

DEFICIENCY OF MITOCHONDRIAL COMPLEX 4 (NUCLEAR GENES): 14 genes – Delivery time: 3-4 weeks

COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FASTKD2, LRPPRC, PET100, SCO1, SCO2, SURF1, TACO1

DISORDER OF MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION: 212 genes – Delivery time: 3-4 weeks

AARS2, ABCB7, ABHD5, ACAD9, ACADS, AFG3L2, AGK, AIFM1, AK2, APOPT1, APTX, ARMS2, ARX, ATAD3B, ATP5F1A, ATP5F1B, ATP5F1E, ATP7B, ATPAF2, BCS1L, BOLA3, C12orf65, CA5A, CARS2, CCT7, CHCHD10, CISD2, CLPP, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7B, CYC1, CYCS, DARS, DARS2, DGUOK, DHTKD1, DNA2, DNAJC19, DNM1L, EARS2, ECSIT, ELAC2, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, FXN, GARS, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HOGA1, HSPA9, HSPD1, IARS2, IBA57, IMMT, ISCU, KARS, KIF1B, LARS2, LETM1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MFN2, MGME1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MRRF, MTCH2, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB1, NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NLRX1, NNT, NTHL1, NUBPL, OPA1, OPA3, PANK2, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS, RARS2, RMND1, RPL35A, RPS14, RRM2B, RYR1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SIRT3, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A21, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A5, SOD2, SPG7, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TFB1M, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TOP1MT, TRMU, TRNT1, TSFM, TSPO, TTC19, TUFM, TWNK, TXN2, TYMP, UCP1, UCP2, UCP3, UNG, UQCRB, UQCRC2, UQCRQ, VARS2, YARS2

LEIGH SYNDROME AND MITOCHONDRIAL ENCEPALOPATHY: 144 genes – Delivery time: 3-4 weeks

AARS2, ACAD9, ACO2, AFG3L2, AIFM1, ALDH5A1, APOPT1, APTX, ARX, ATPAF2, AUH, BCS1L, BOLA3, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, CPT2, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1, GFM2, GTPBP3, GYG2, HIBCH, HMGCL, HTRA2, IARS2, IBA57, ISCA2, KCNQ2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1, MPV17, MRPL44, MRPS22, MTFMT, MTPAP, MUT, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SCP2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A19, SLC25A46, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TARS2, TK2, TLR3, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCRB, UQCRQ, VARS2

MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENES): 29 genes – Delivery time: 3-4 weeks

ACAD9, FOXRED1, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, POLG

MITOCHONDRIAL DISEASES (MITOCONDRIAL GENES): 37 genes – Delivery time: 4-6 weeks

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

MITOCHONDRIAL DISEASES (NUCLEAR GENES) GLOBAL: 721 genes – Delivery time: 3-4 weeks

AAAS, AARS, AARS2, AASS, ABAT, ABCB11, ABCB4, ABCB6, ABCB7, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD5, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACHE, ACLY, ACO2, ACOX1, ACSF3, ACSL4, ACSL5, ACSM3, ADAR, ADSL, AFG3L2, AGK, AGL, AGPS, AGXT, AGXT2, AIFM1, AK2, AKAP10, AKR7A2, AKT1, AKT2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, AMPD1, AMT, ANK2, ANKRD26, APOPT1, APTX, ARG1, ARMS2, ARX, AS3MT, ASL, ASS1, ATAD3A, ATAD3B, ATIC, ATP10D, ATP5F1A, ATP5F1B, ATP5F1E, ATP7B, ATP8B1, ATPAF2, ATXN7, AUH, B4GALT1, BAG3, BAX, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BTD, C12orf65, C19orf12, CA5A, CACNA1A, CACNA1S, CACNA2D1, CARS2, CASP8, CAT, CAVIN1, CCT7, CDC42BPB, CDKL5, CEL, CEP89, CFTR, CHAT, CHCHD10, CHDH, CHKB, CHRNA4, CHRNB2, CISD2, CKM, CLCN1, CLCN2, CLCN5, CLCN7, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLYBL, CNR1, COA5, COA6, COASY, COG4, COG5, COG6, COG7, COG8, COMT, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6A1, COX6B1, COX7A1, COX7A2, COX7B, CPOX, CPS1, CPT1A, CPT1B, CPT1C, CPT2, CRBN, CTSD, CYB5A, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDAH1, DDC, DDHD1, DDHD2, DDOST, DECR1, DES, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DISC1, DLAT, DLD, DMAC2, DMGDH, DMPK, DNA2, DNAJC19, DNAJC30, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, DTNBP1, EARS2, ECHS1, ECI1, ECSIT, EHHADH, ELAC2, ELN, ENO1, ENO3, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAAH, FAH, FARS2, FASN, FASTKD2, FBP1, FBXL4, FDX2, FECH, FH, FKBP10, FOLR1, FOXC1, FOXG1, FOXRED1, FTH1, FXN, G6PC, G6PD, GAA, GAD1, GAD2, GALC, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLO1, GLRA1, GLRX5, GLS, GLUD1, GLYCTK, GMPPA, GNAS, GNPAT, GPAM, GPD1, GPD2, GPI, GPT2, GPX1, GPX4, GRHPR, GSR, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, H6PD, HADH, HADHA, HADHB, HAMP, HARS, HARS2, HAX1, HCCS, HCFC1, HIBCH, HIGD2A, HINT1, HK1, HK2, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPB7, HSPD1, HTRA2, IARS2, IBA57, IDE, IDH1, IDH2, IDH3B, IFIH1, IMMP2L, IMMT, INPP5E, INSR, ISCA2, ISCU, IVD, KARS, KCNA1, KCNE1, KCNE2, KCNH2, KCNJ11, KCNJ2, KCNQ1, KCNQ2, KCNQ3, KIF1B, KIF5A, KRT5, KRT8, KYNU, L2HGDH, LAMP2, LARS, LARS2, LDHA, LDHB, LETM1, LIAS, LIG3, LIPT1, LMBRD1, LONP1, LRPPRC, LRRK2, LYRM4, LYRM7, MAOA, MAOB, MARS, MARS2, MAVS, MCCC1, MCCC2, MCEE, MDH1, MDH2, MECP2, MED23, MEN1, MFF, MFN2, MFSD8, MGAT2, MGLL, MGME1, MGST3, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL40, MRPL44, MRPL48, MRPS16, MRPS2, MRPS22, MRRF, MSRB3, MTCH2, MTFMT, MTHFD1, MTHFD1L, MTO1, MTPAP, MTR, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NGLY1, NIPSNAP1, NIPSNAP3A, NLRX1, NME1, NNT, NOS3, NPL, NR2F1, NRXN1, NTHL1, NUBPL, NUP62, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXA1L, OXCT1, PACRG, PAH, PAK5, PAM16, PANK2, PARK7, PARL, PARP1, PARS2, PC, PCCA, PCCB, PCK1, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PINK1, PKLR, PMM2, PNKD, PNMT, PNPO, PNPT1, POLG, POLG2, POLRMT, POP1, PPARGC1A, PPM1K, PPOX, PPT1, PREPL, PRKAG2, PRKN, PRODH, PRPS1, PSAP, PTGES2, PTRH2, PTS, PUS1, PYCR1, PYCR2, PYGM, QARS, QDPR, RAB11FIP5, RANBP2, RARS, RARS2, RDH11, REEP1, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RPIA, RPL35A, RPS14, RRM2B, RSPH9, RYR1, RYR2, SACS, SAMHD1, SARDH, SARS2, SBDS, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SHMT1, SIRT1, SIRT3, SIRT5, SLC16A1, SLC19A2, SLC19A3, SLC22A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A3, SLC25A38, SLC25A39, SLC25A4, SLC25A46, SLC25A5, SLC27A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC3A1, SLC52A2, SLC52A3, SLC6A8, SLC7A7, SLC9A6, SNAP29, SOD1, SOD2, SPART, SPAST, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSR4, STAR, STAT2, STOM, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUOX, SURF1, TACO1, TAP1, TARS2, TAT, TAZ, TCIRG1, TDP1, TFAM, TFB1M, TFR2, TIMM44, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TMLHE, TOMM40, TOP1MT, TOP3A, TP53, TPH2, TPI1, TPK1, TPP1, TRAP1, TREX1, TRIT1, TRMU, TRNT1, TSFM, TSPO, TST, TTBK2, TTC19, TUBB3, TUFM, TWNK, TXN2, TXNRD2, TYMP, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROS, USP24, VARS2, WDR4, WDR45, WDR81, WFS1, WWOX, XPNPEP3, YARS2

SEARCH BY DISEASE OR GENE