NuclearMitome – Comprehensive Sequence Analysis of 448 Nuclear Mitochondrial Genes

The clinical and genetic heterogeneity of mitochondrial disorders often makes establishing a molecular diagnosis challenging.   The sheer number of genes related to mitochondrial function has rendered comprehensive genetic testing impossible for many patients.  Accordingly, the Transgenomic NuclearMitome Test is indicated for patients for whom a mitochondrial disorder is suspected, but testing of the mitochondrial genome and possibly some specific autosomal genes was negative.
The typical patient for whom the NuclearMitome Test would be ordered will have symptoms typical of mitochondrial disease, such as, but not limited to, myopathy, exercise intolerance, lactic acidosis, seizures, developmental regression, respiratory chain deficiencies, ataxia, or neuropathy.

Test Order Code: NuclearMitome
Test Order Code NuclearMitome
CPT Codes

81404 x 4, 81405 x 2, 81406 x 1, 81407 x 3

Technical Details

Methods and Limitations

The Transgenomic NuclearMitome test is a comprehensive gene panel for variants in 448 nuclear genes important for mitochondrial function. Solution-based hybrid capture of the targeted genes coupled to next-generation sequencing on the Illumina® Genome Analyzer platform was used to identify DNA variants. All variants in dominant genes and all homozygous or compound heterozygous variants in recessive genes were confirmed by Sanger sequencing. Large deletions and duplications cannot be effectively characterized by this method. In addition, some regions of targeted genes cannot be effectively amplified and sequenced as a result of technical limitations of the assay. This report includes any detected variants categorized as deleterious or predicted deleterious mutations and variants of unknown significance. Benign variants are not reported. Rare sequence variants, regions of GC-rich structure or repetitive sequences may interfere with analysis. These results should be interpreted in the context of family history, clinical findings, and other laboratory data as appropriate. Interpretation and classification of variants are subject to change in light of new evidence.


12 weeks for index tests, 4-6 weeks for family tests

Sample Collection and Collection Kits

Sample Requirements
  • 4 ml blood in a plastic EDTA tube shipped at room temperature

Ship to: Transgenomic, 5 Science Park, New Haven CT, 06511

Collection Kits

Complimentary blood collection kits are available. To order kits, click here.

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