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Dynamin-2 Related Disorders via the DNM2 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
DNM2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11251DNM281479 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


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Centronuclear myopathy-1 (CNM1, OMIM 160150) and axonal Charcot-Marie-Tooth disease, intermediate type B (CMTDIB, OMIM 606482) are allelic disorders caused by heterozygous variants of the DNM2 gene. Patients with centronuclear myopathy-1 exhibit variable age of onset ranging from congenital to early childhood to as late as the third decade of life (Bitoun et al. Nat Genet 37:1207-1209, 2005). Generalized muscle weakness especially in the distal lower limbs is a constant finding. Congenital-onset cases have been described as having a more severe disease course requiring ventilation and NG tube feeding (Bitoun et al. Ann Neurol 62:666-670, 2007). Two patients with childhood-onset disease were described as having normal motor development and restrictive respiratory syndrome (Bitoun et al. 2007). Other findings from this published series of patients include open mouth; high, arched palate; high, arched foot; ptosis; scoliosis; contractures; and hyperlaxity. Another patient with onset in early childhood was described as having difficulty walking and running as a child with progression to requiring a wheelchair by age 30 (Bitoun et al. Neurology 72:93-95, 2009). This patient also had a progressive restrictive respiratory syndrome, facial weakness, and ptosis. Histopathology of affected muscles in CNM1 show hypotrophy of type 1 fibers and centrally placed nuclei. CMTDIB patients present in the first decade of life with progressive gait unsteadiness and foot deformities, including pes cavus (Fabrizi et al. Neurology 69:291-295, 2007; Zuchner et al. Nat Genet 37:289-294, 2005). Additional findings include peripheral sensory neuropathy, painful paresthesias, distal muscle weakness, atrophy of the lower limbs, and variable hand weakness and atrophy (Gallardo et al. J Neurol 255:986-992, 2008). Histology in CMTDIB is consistent with an axonal neuropathy without demyelination.


Centronuclear myopathy and axonal Charcot-Marie-Tooth diseases are genetically heterogeneous disorders. Numerous axonal forms of CMT are known (Bird, GeneReviews, 2012). One X-linked form and several other autosomal dominant forms of centronuclear myopathy are also known. DNM2-related centronuclear myopathy and Charcot-Marie-Tooth disease are inherited as autosomal dominant disorders. Missense variants are the most common form of pathogenic gene variant. Small deletions, mostly in-frame, have also been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity may be high because all DNM2 variants reported to date will be detectable by direct sequencing of genomic DNA. Clinical sensitivity is difficult to predict due to genetic heterogeneity of these disorders.

Testing Strategy

This test provides full coverage of all coding exons of the DNM2 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

Patients with clinical features of CNM1 or CMTD1B with centrally placed nuclei in muscle.


Official Gene Symbol OMIM ID
DNM2 602378
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Bird T.D. 2015. Charcot-Marie-Tooth Hereditary Neuropathy 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: 20301532
  • Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB. 2009. A New Centronuclear Myopathy Phenotype Due To A Novel Dynamin Mutation. Neurology 72: 93–95. PubMed ID: 19122038
  • Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, et al. 2007. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Annals of Neurology 62: 666–670. PubMed ID: 17932957
  • Bitoun M, Maugenre S, Jeannet P-Y, Lacène E, Ferrer X, Laforêt P, Martin J-J, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, et al. 2005. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature Genetics 37: 1207–1209. PubMed ID: 16227997
  • Fabrizi et al. Neurology 69:291-295, 2007 PubMed ID: 17636067
  • Gallardo et al. J Neurol 255:986-992, 2008 PubMed ID: 18560793
  • Zuchner et al. Nat Genet 37:289-294, 2005 PubMed ID: 15731758


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