Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Test Description

Test Code – MD004

Mitochondrial disorders are a clinically diverse group of genetic conditions that affect the function of the mitochondria, the main source of energy for cells throughout the body. Multiple organ systems are typically affected in mitochondrial disorders, particularly the brain, skeletal and heart muscle, kidneys, and the endocrine system as these systems require large amounts of energy and tend to have the most mitochondria per cell. Mitochondrial disorders are hard to diagnose as they can affect each individual differently, leading to different symptoms from person to person.

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis uses a whole genome sequencing platform to diagnose mitochondrial disorders due to variants in 336 nuclear genes. For broader analysis, consider adding Genomic Unity® Mitochondrial Genome Sequence Analysis and Genomic Unity® Mitochondrial Genome Deletions Analysis. Additional testing will be performed consecutively when the prior testing is non-diagnostic.

When to order

Order this test when a person presents with clinical symptoms affecting multiple organ systems suggestive of a mitochondrial disorder. You also have the option to reflex up to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Additionally, this test can also be paired with another analysis when clinical symptoms overlap with mitochondrial disorders.

Included Analyses

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

Included Genes

Note: 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.

Test Performance

 >  %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 >  %
Positive predictive value for SNVs
Clinical sensitivity for structural variants

CPT Codes


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.

Accepted Specimens



Specimen Requirements



Specimen Requirements



Specimen Requirements

Turnaround Time

A report will be issued within 4-8 weeks from receipt of all sample requirements.

Contact Us

Please contact customer service to request a kit.

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