GTR Home > Tests > Mitochondrial Genome Sequencing and Depletion/Integrity Panel


Test order codeHelp: Mitochondrial Genome Sequencing MtDNA

Test name


Mitochondrial Genome Sequencing and Depletion/Integrity Panel (MtDNA)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Drug Response, Mutation Confirmation, Predictive, Prognostic, Risk Assessment



47 conditions tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
TTargeted variant analysis
  • Roche LightCycler 480

Summary of what is tested

51 genes and variants, 1 chromosomal regions. Click Methodology tab for more information.


Chromosomal regions/Mitochondria

  • Mitochondrion

Clinical validity


This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis, >99%

  • Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. - PubMed ID: 27376475

Clinical utility


Establish or confirm diagnosis

Guidance for management

Guidance for selecting a drug therapy and/or dose

Reproductive decision-making

Testing strategy


All coding exons and 20 bp of flanking intronic sequence are enriched using an LHSC custom targeted hybridization protocol (Roche Nimblegen), followed by high throughput sequencing (Illumina). Sequence variants and copy number changes are assessed and interpreted using clinically validated algorithms and commercial software (SoftGenetics: Nextgene, Geneticist Assistant, Mutation Surveyor; and Alamut Visual). All genes have >1000x mean read depth coverage, with a minimum 200x coverage at a single nucleotide resolution. Test is validated for heteroplasmy detection sensitivity of 2-5%. All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request. Analysis includes copy number assessment for the mitochondrial DNA deletion syndrome (Kearns-Sayre syndrome).

How to order


Complete and physician signed requisition required with pedigree and clear clinical diagnosis. Requisition available on lab website if required. Please draw 2-5ml EDTA whole blood or other appropriate tissues and ship by overnight courier to the lab address (weekdays only)
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Confirmation of research findings, comments
  • Custom mutation-specific/Carrier testing

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