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: 33000
Test Order Code 33000
CPT Codes



Test Includes

The NuclearMitome Test uses next-generation sequencing technology to analyze more than 400 nuclear genes relevant to normal mitochondrial function or conditions that mimic mitochondrial disease. The presence of suspected disease-causing variants is confirmed by Sanger sequencing.

Technical Details

Methods and Limitations

The Transgenomic NuclearMitome test is a comprehensive gene panel that tests 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® HiSeq platform was used to identify DNA variants. This test is performed jointly between Transgenomic, and the Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC room 2373, Milwaukee, WI 53226, Telephone: (414)955-2550, CLIA #52D1043369. All reported variants were confirmed by Sanger sequencing. Variants are classified by comparison with reference sequences and through review of published literature, public variant databases, and Transgenomic’s sequencing results. In general, dominant and X-linked variants with a minor allele frequency (MAF) ≥ 0.2% and recessive variants with a MAF ≥ 0.5% in ostensibly healthy control populations are considered polymorphisms. PolyPhen-2 in silico analysis, trained with the HumVar dataset, was used to predict the pathogenicity of all nonsynonymous variants of unknown significance (Nat Methods, 2010, 7:248-9, PubMed 20354512); however, the accuracy of PolyPhen-2’s predictions has not been established in the context of mitochondrial disorders and these specific genes. 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, predicted deleterious, possibly deleterious, 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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