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Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
DNA2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11233DNA281479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Kym Bliven, PhD

Clinical Features and Genetics

Clinical Features

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder characterized by progressive external ophthalmoplegia and ptosis, with multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle (Chinnery 2014; Ronchi et al. 2013).

DNA2-related adPEO is characterized by progressive myopathy with muscle mitochondrial dysfunction (Ronchi et al. 2013). To date, only a few DNA2-linked adPEO patients have been reported (Ronchi et al. 2013). In these individuals, the disease was generally adult-onset, and patients presented with adPEO in combination with limb-girdle muscle weakness, predominantly in the lower limbs.


DNA2 defects represent a rare cause of autosomal dominant PEO (Ronchi et al. 2013). DNA2 has 21 coding exons that encode a helicase/nuclease family member involved in mtDNA replication and the long-patch base-excision repair (LP-BER) pathway (Copeland and Longley 2008; Zheng et al. 2008). The majority of reported pathogenic variants in DNA2 are missense changes (Human Gene Mutation Database).

Defects in C10orf2, POLG, POLG2, RRM2B, and SLC25A4 may also cause adPEO (Fratter et al. 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

In one cohort, three of 90 patients (3.3%) with multiple mtDNA deletions harbored pathogenic variants in the DNA2 gene (Ronchi et al. 2013).

No gross deletions or insertions have been reported in the DNA2 gene to date (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the DNA2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test include patients with adPEO, particularly when sequencing of the C10orf2, POLG, POLG2, and RRM2B genes has not revealed any probable causative variants. Testing is also indicated for family members of patients who have known pathogenic variants in DNA2


Official Gene Symbol OMIM ID
DNA2 601810
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Chinnery P.F. 2014. Mitochondrial Disorders Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301403
  • Copeland W.C. and Longley M.J. 2008. Molecular Cell. 32:457-8. PubMed ID: 19026774
  • Fratter C. et al. 2010. Neurology. 74:1619-26. PubMed ID: 20479361
  • Human Gene Mutation Database (Bio-base).
  • Ronchi D. et al. 2013. American Journal of Human Genetics. 92:293-300. PubMed ID: 23352259
  • Zheng L. et al. 2008. Molecular Cell. 32:325-36. PubMed ID: 18995831


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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