55370 – Panel virtuel ciblé de gènes associés aux maladies mitochondriales liées à des mutations de l’ADN nucléaire analysés à partir des données de séquençage de l’exomeRQDM
Génétique - Génétique moléculaire
Gènes
AARS2, ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ANO10, APTX, ATAD3A, ATP5F1A, ATP5F1D, ATP5MC3, ATP5MD, ATPAF2, BCS1L, BOLA3, BTD, C1QBP, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA6, COA7, COA8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX16, COX20, COX6A1, COX6A2, COX6B1, COX7B, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GARS1, GATC, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HPDL, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH3A, ISCA1, ISCA2, ISCU, KARS1, LARS2, LIAS, LIG3, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCAT, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS14, MRPS2, MRPS22, MRPS34, MSTO1, MTFMT, MTO1, MTPAP, MTRFR, NADK2, NARS2, NAXD, NAXE, 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, NFS1, NFU1, NSUN3, NUBPL, OPA1, OPA3, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PITRM1, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, POLRMT, PPA2, PRORP, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SPG7, SQOR, SSBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM70, TOMM7, TOMM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCRB, UQCRC2, UQCRFS1, VARS2, WARS2, YARS2
Laboratoires effectuant cette analyse
- Centre hospitalier universitaire Sainte-Justine
Laboratoire de diagnostic moléculaire
Responsable(s) : Dr Jean-François Soucy, Dre Catalina Maftel, Mme Mylène Dugas