Genes:
AARS2, ABCB7, ABCB8, ABHD5, ACAD9, ACADS, AFG3L2, AGK, AIFM1, AK2, AK3, APOPT1, APTX, ARMS2, ARX, ATAD3B, ATP5F1A, ATP5F1B, ATP5F1E, ATP7B, ATPAF2, BCS1L, BOLA3, C12orf65, CA5A, CARS2, CCT7, CHCHD10, CISD2, CKMT1B, CLPP, COA5, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7A1, COX7B, COX8A, CYC1, CYCS, DARS, DARS2, DGUOK, DHTKD1, DNA2, DNAJC19, DNM1L, EARS2, ECSIT, ETHE1, FARS2, FASTKD2, FBXL4, FDPS, FOXRED1, FXN, GARS, GATD3A, GFER, GFM1, GFM2, GTPBP3, HARS2, HCCS, HOGA1, HSPA9, HSPD1, HSPE1, IARS2, IBA57, IMMT, ISCU, KARS, KIF1B, LARS2, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MFN2, MGME1, MPC1, MPV17, MRPL15, MRPL19, MRPL3, MRPL43, MRPL44, MRPL57, MRPS12, MRPS16, MRPS17, MRPS18A, MRPS22, MRRF, MTCH2, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB1, NDUFB11, NDUFB3, NDUFB6, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NLRX1, NNT, NUBPL, OPA1, OPA3, PANK2, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS, RARS2, RMND1, RMRP, RPL35A, RPS14, RRM2B, RYR1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SHMT2, SIRT3, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A16, SLC25A19, SLC25A21, SLC25A22, SLC25A3, SLC25A32, SLC25A35, SLC25A38, SLC25A4, SLC25A42, SLC25A5, SLC25A6, SLC5A8, SOD2, SPG7, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TFB1M, TIMM13, TIMM44, TIMM50, TIMM8A, TIMM9, TK2, TKT, TMEM126A, TMEM70, TOP1MT, TRMU, TRNT1, TSFM, TSPO, TTC19, TUFM, TWNK, TYMP, UCP1, UCP2, UCP3, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, YARS2
( 235 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)