Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

MD004

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis is a diagnostic test designed to identify nuclear variants that cause mitochondrial disorders.

Test Description

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on analysis of 336 nuclear genes associated with mitochondrial disorders.

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA).

Learn More About Mitochondrial Disorder Testing With Variantyx

When to Order

Order this test when clinical symptoms affect multiple organ systems and are suggestive of a mitochondrial disorder.

Included Genes

AARS2, ABCB6, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, AK2, ALAS2, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH18A1, AMACR, AMT, APTX, ATP5A1, ATP5F1E, 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, COX4I2, COX6A1, COX6B1, COX7B, COX10, COX14, COX15, COX20, CPT1A, CPT1C, CPT2, CYC1, CYCS, CYP11A1, CYP27A1, D2HGDH, DARS2, DBT, DDC, DDHD1, DECR1, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX2, FH, FOXRED1, FXN, G6PC1, 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, HSD3B2, HSD17B10, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KIF1B, L2HGDH, LARS2, LDHA, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL3, MRPL12, MRPL44, MRPS7, MRPS16, MRPS22, MSRB3, MTFMT, MTO1, MTPAP, NADK2, NAGS, NARS2, NDUFA1, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFB11, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, 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, SLC6A8, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A3, SLC25A4, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A38, SLC25A46, SLC37A4, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TIMM44, TK2, TMEM70, TMEM126A, TMLHE, TPI1, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

Included Analyses

  • Sequence analysis of nuclear mitochondrial disorder-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of nuclear mitochondrial disorder-associated genes including: duplications/deletions, mobile element insertions, and inversions.

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Sample Types

CPT Codes

81440

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

Methods and Limitations

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Test limitations:
The NDUFB11, PRODH and SLC6A8 are not fully covered, therefore not all pathogenic variants may be detected. The PRODH and TMLHE genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.