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Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 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
MYF6 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8955MYF681479 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

An apparently rare form of autosomal dominant centronuclear myopathy (CNM3; OMIM 614408) has been found to be caused by mutations in the MYF6 gene (Kerst et al. Neuromuscul Disord 10:572-577, 2000). A single patient has been described with elevated serum CpK levels at the age of 9 years. At the age of 12 years the patient complained of exercise induced muscle cramps and weakness in his slower limbs. At this stage, serum CpK levels were normal, however, a muscle biopsy revealed myopathic changes with increased numbers of centrally placed nuclei.


Centronuclear myopathy is a genetically heterogeneous disorder. One X-linked form and several autosomal dominant forms are known. MYF6-related centronuclear myopathy is inherited as an autosomal dominant disorder. The one patient described with CNM3 was found to have a missense mutation of a conserved amino acid in the helix 1 region of myogenic transcription factor-6 protein. In vitro studies showed that protein-protein interaction of the mutant protein was reduced, and potential to bind to a myosin gene enhancer element, as well as transactivation capacity, were abolished (Kerst et al., 2000). The patient inherited the MYF6 missense mutation from his more severely affected father, who was known to also have an in-frame DMD deletion mutation, but a more severe presentation than typical Becker muscular dystrophy (Kerst et al., 2000). The authors proposed that the two mutations resulted in a more severe phenotype than expected from either of the mutations individually.

Clinical Sensitivity - Sequencing with CNV PGxome

CNM3 has been described in only one patient (Kerst et al. Neuromusc Disord 10:572-577, 2000), therefore, clinical and analytical sensitivity cannot yet be accurately estimated.

Testing Strategy

This test provides full coverage of all coding exons of the MYF6 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 mild clinical and myopathic features with centrally placed nuclei, and autosomal dominant inheritance.


Official Gene Symbol OMIM ID
MYF6 159991
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Myopathy, Centronuclear, 3 AD 614408


  • Kerst et al. "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromusc Disord 10: 572-577, 2000. PubMed ID: 11053684


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)

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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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