Genetic Test Details
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
- DNA , Dried Blood Spot , Blood
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- Augmented exome backbone
- Disease/Condition
- Nuclear mitochondrial related diseases
Dernière Mise à Jour: 18 juin 2025