Full mitochondrial nuclear gene panel

Full mitochondrial nuclear gene panel

Test Information

Titre
Full mitochondrial nuclear gene panel
Catégorie
Mitochondrial
Sub Category
Mitochondrial nuclear gene
Gene/Platform/Region List
AARS2, ABAT, ABCB7, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACLY, ACO2, ACSL5, ACSM3, ADAR, ADSL, AFG3L2, AGK, AGL, AGXT2, AIFM1, AK2, AKAP10, AKR7A2, ALDH18A1, ALDH1B1, ALDH5A1, ALDH6A1, ALDH7A1, ALG3, AMPD1, AMT, ANTXR1, AS3MT, ATIC, ATP1A3, ATP10D, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MF, ATP5MG, ATP5MGL, ATP5PO, ATP5PB, ATP5PD, ATP5PF, ATPAF1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C1QBP, C19orf12, CA5A, CARS2, CCDC88A, CEP89, CHCHD10, CHDH, CHKB, CISD2, CLN3, CLPB, CLPP, CLYBL, COA1, COA3, COA4, COA5, COA6, COA7, COA8, COASY, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7C, COX8A, CPT1A, CPT1B, CPT2, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, D2HGDH, DARS2, DBT, DDAH1, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, EARS2, ECHS1, ELAC2, ERAL1, ETFA, ETFB, ETFDH, ETHE1, FA2H, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, FXN, GAA GARS1, GATB, GATC, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLS, GTPBP3, GYG2, GYS1, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPA9, HSPD1, IARS2, IBA57, IDH2, IDH3A, IDH3B, ISCA1, ISCA2, ISCU, IVD, KARS1, KIF5A, KIF21A, KLC2, KYNU, L2HGDH, LARS1, LARS2, LDHA, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LRPPRC, LYRM4, LYRM7, MARS2, MCEE, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS22, MRPS23, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, MTRFR, MTRR, MMUT, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA5, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8 (C17ORF89), NDUFB1, NDUFB6, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NR2F1, NSUN3, NUBPL, OPA1, OPA3, OXA1L, OXCT1, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PFKM, PGAM2, PGM1, PHKA1, PHKB, PHOX2A, PITRM1, PLA2G6, PLP1, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PRPS1, PTCD3, PTS, PUS1, PYGM, QARS1, QDPR, QRSL1, RARS1, RARS2, RMND1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A19, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SNX10, SPATA5, SPG7, SPR, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAFAZZIN, TARS2, TCIRG1, TCN2, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TOMM20, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXN2, TYMP, UCHL1, UNG, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11 , UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, VARS2, WARS2, WDR73, WFS1, YARS2, YME1L1
Test type
Gene Panel
Samples Accepted
Blood , DNA , Dried Blood Spot
Indications
Diagnostics , Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
Nuclear mitochondrial related diseases

Dernière Mise à Jour: 24 juin 2025