Genomic Unity® Mitochondrial Genome Analysis

This an effective test for identifying variants within the mitochondrial genome.

Order this test when the patient presents with clinical symptoms affecting multiple organ systems and that are suggestive of a mitochondrial disorder, and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

Or when you would like to pair analysis of the mitochondrial genome with another analysis due to shared clinical symptomology with mitochondrial disorders.

  • Mitochondrial genome analysis with heteroplasmy (≥5%)
  • Mitochondrial genome large deletion analysis

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis

AARS2, ABCB6, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, C12ORF65, C19ORF12, CA5A, CARS2, CAVIN1, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPT1A, CPT1C, CPT2, CYC1, CYCS, CYP11A1, CYP27A1, D2HGDH, DARS2, DBT, DDHD1, DECR1, DGMDH, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX10, FH, FOXRED1, FXN, G6PC, GAA, GAMT, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLUD1, GPI, GPT2, GPX1, GRHPR, GSR, GSS, GTPBP3, GYS1, GYS2, HADHA, HADHB, HARS2, HAX1, HCCS, HK1, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KIF1B, L2HGDH, LARS2, LGHA, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFA1, NFU1, NNT, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OXCT1, PAM16, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDSS1, PDSS2, PET100, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PINK1, PKLR, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PRKAG2, PRODH, PRPS1, PTRH2, PUS1, PYCR1, PYCR2, PYGM, QARS1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

 

Mitochondrial genes

MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT-TC, MT-TE, MT-TQ, MT-TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT-TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2

 

Mitochondrial variants:
Reported when heteroplasmy is ≥5%

81460, 81465

The CPT codes provided are forinformational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.

Product Sheet

Genomic Unity® Mitochondrial Genome Analysis

Forms

Tests which include this analysis

Additional resources