Full mitochondrial nuclear gene panel

Test Information
Test Name Full mitochondrial nuclear gene panel
Lab (Location) Newborn Screening Ontario
Category Mitochondrial
Subcategory 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 Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Sequencing
Methodology Notes Augmented exome backbone
Diseases/Conditions Nuclear mitochondrial related diseases