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Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 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
CCDC78 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11155CCDC7881479 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 (CNM4; OMIM 614807) has been found to be caused by a mutation in the CCDC78 gene (Majczenko et al. Am J Hum Genet 91:365-371, 2012). CNM4 has been described in multiple members of a single family in which affected individuals display an early onset myopathy with distal weakness more pronounced than proximal weakness. Hypotonia was present at birth, as was fatigue and myalgias later in life. Ambulation is preserved, although patients experienced increased numbers of falls. Facial muscles, respiratory function, and cardiac muscles were not affected. Muscle biopsies revealed centralized nuclei, type 1 fiber predominance, fiber-size variability, and core-like areas in one patient. Internal aggregates stained positive for desmin.


Centronuclear myopathy is a genetically heterogeneous disorder. One X-linked form, one autosomal recessive form, and several autosomal dominant forms are known. CCDC78-related centronuclear myopathy (CNM-4) is inherited as an autosomal dominant disorder. Thus far, only one family has been reported with this form of CNM (Majczenko et al., 2012). A splice site mutation was found to cosegregate with an early onset myopathy in the reported family.

The ‘coiled-coil domain-containing’ protein is encoded by exons 1 - 14 of the CCDC78 gene (OMIM 614666) located on chr 16p13.3.

Clinical Sensitivity - Sequencing with CNV PGxome

CCDC78-related centronuclear myopathy has been described in only one family, therefore, clinical and analytical sensitivity cannot be predicted. CNM4 may be rare because testing of 46 probands outside of the index family revealed no other patients with CCD78 mutations (Majczenko et al., 2012).

Testing Strategy

This test provides full coverage of all coding exons of the CCDC78 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 CNM4, centrally placed nuclei and desmin-positive antigen in muscle, and autosomal dominant inheritance.


Official Gene Symbol OMIM ID
CCDC78 614666
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Myopathy, Centronuclear AD 614807


  • Majczenko, K. et al. (2012). PubMed ID: 22818856


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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