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פאנלים
Mitochondrial disorder
GC_73
Last update: 07.01.2026
Mitochondrial disorders are genetically heterogeneous diseases caused by impaired mitochondrial function and energy production. They commonly affect tissues with high energy demands, including the nervous system, skeletal muscle, heart, liver, kidneys, eyes, ears, and endocrine system, and may present as isolated organ involvement or multisystem disease.
This panel includes nuclear and mitochondrial genes associated with the major molecular pathways underlying mitochondrial disease, including oxidative phosphorylation, mitochondrial DNA maintenance and replication, mitochondrial translation, coenzyme Q10 biosynthesis, mitochondrial dynamics, and related metabolic pathways. Representative genes include POLG, SURF1, TWNK, TK2, OPA1, MFN2, COQ genes, and MT-ATP6. It also includes genes associated with well-established mitochondrial phenotypes such as MELAS, MERRF, Leigh syndrome, LHON, NARP, and maternally inherited mitochondrial hearing loss.
This panel is recommended for patients with suspected mitochondrial disease, particularly those with multisystem involvement or an unexplained combination of neurologic, muscular, cardiac, metabolic, ophthalmologic, auditory, hepatic, renal, or endocrine abnormalities suggestive of mitochondrial dysfunction.
AARS2, AASS, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH3A2, AMPD1, AMT, ANO10, APTX, ATAD3A, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MK, ATP5PF, ATP5PO, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF12, C19ORF70, C1QBP, C2orf69, CA5A, CARS2, CEP89, CHAT, CHCHD10, CLPB, CLPP, CMPK2, COA1, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX18, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6C, COX7A1, COX7B, COX7C, COX8A, CPS1, CPT1A, CPT2, CRAT, CRLS1, CYC1, CYCS, D2HGDH, DARS2, DCC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ERAL1, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GUK1, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HPDL, HSD17B10, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH1, IDH2, IDH3A, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, KIF5A, L2HGDH, LAMP2, LARS1, LARS2, LETM1, LIAS, LIG3, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MICU2, MIEF2, MIPEP, MORC2, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL39, MRPL40, MRPL44, MRPL49, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MSTO1, 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, MTFMT, MTHFD1, MTO1, MTPAP, MTRFR, NADK2, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXA1L, OXCT1, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDE12, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PLA2G6, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POLRMT, POP1, PPA2, PPOX, PRORP, PSAP, PTCD3, PTPMT1, PUS1, QARS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SIRT1, SLC13A3, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SLC7A13, SPAST, SPATA5, SPG7, SQOR, SSBP1, STAT2, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUPV3L1, SURF1, TACO1, TAFAZZIN, TAMM41, TANGO2, TARS2, TEFM, TFAM, TIMM22, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TOMM7, TOMM70, TOP1MT, TOP3A, TPK1, TRAP1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, VARS2, VPS13D, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1



4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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