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Left Ventricular Noncompaction (LVNC) via the DTNA 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
DTNA 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3845DTNA81479 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


  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Left Ventricular Noncompaction (LVNC) cardiomyopathy is a heart condition believed to result from an arrest in cardiac development during embryogenesis, resulting in a spongy, noncompacted appearance. The numerous trabeculations are most pronounced in the left ventricle (Chin et al. 1990). Diagnosis is based on structural features using echocardiography and cardiac MRI. LVNC can occur in isolation or be found with other heart defects (most commonly dilated cardiomyopathy, hypertrophic cardiomyopathy, and/or congenital heart defects), genetic syndromes (such as Barth syndrome), and neuromuscular disorders (Pignatelli et al. 2003; Wald et al 2004; Oechslin et al. 2011; Jefferies 2013). Prevalance of LVNC is estimated to be ~0.25% of adults referred for echocardiography (Sandhu et al. 2008). Eighteen to fifty percent of isolated LVNC cases in adults are believed to be familial (Hoedemaekers et al. 2010).


LVNC is a genetically heterogeneous disorder that is inherited in an autosomal dominant (ACTC1, DTNA, LDB3, LMNA, MYBPC3, MYH7, TNNT2, VCL) or X-linked recessive (TAFAZZIN) manner (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010). Pathogenic variants in TAFAZZIN cause Barth syndrome, which can have LVNC as one of the symptoms. See individual gene test descriptions for information on molecular biology of gene products.

DTNA contains 743 amino acids, spans over 180 kb and is located at 18q12 (Sadoulet-Puccio et al. 1997). The α-dystrobrevin protein encoded by DTNA gene is part of the dystrophin-associated protein complex (DPC). DPC can be divided into 3 subcomplexes: the dystroglycan complex, the sarcoglycan complex, and the cytoplasmic complex (the syntrophins and dystrobrevin), which is responsible for connecting the actin cytoskeleton with extracellular matrix (chen et al. 1999). Pathogenic variants in DTNA gene could disrupt signal transduction pathways ( such as, TGF-β pathway, nitric oxide pathway), leading to developmental errors in the heart (Ichida et al. 2001). One missense pathogenic variant has been reported in DTNA for LVNC (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Only a limited number of cases associated with DTNA pathogenic variants have been reported. The clinical sensitivity for DTNA gene alone is not available yet. No large deletions or duplications in DTNA have been documented.

Testing Strategy

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

All patients with symptoms suggestive of LVNC are candidates for this test.


Official Gene Symbol OMIM ID
DTNA 601239
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Left Ventricular Noncompaction 1 AD 604169

Related Tests

Comprehensive Cardiology Panel
Left Ventricular Noncompaction (LVNC) Panel


  • Chen J., Chien K.R. 1999. The Journal of Clinical Investigation. 103: 1483-5. PubMed ID: 10359556
  • Chin T.K. et al. 1990. Circulation. 82: 507-13. PubMed ID: 2372897
  • Hermida-Prieto M. et al. 2004. The American Journal of Cardiology. 94: 50-4. PubMed ID: 15219508
  • Hoedemaekers Y.M. et al. 2010. Circulation. Cardiovascular Genetics. 3: 232-9. PubMed ID: 20530761
  • Human Gene Mutation Database (HGMD).
  • Ichida F. et al. 2001. Circulation. 103: 1256-63. PubMed ID: 11238270
  • Jefferies J.L. 2013. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 163C: 198-205. PubMed ID: 23843353
  • Klaassen S. et al. 2008. Circulation. 117: 2893-2901. PubMed ID: 18506004
  • Oechslin E., Jenni R. 2011. European Heart Journal. 32: 1446-56. PubMed ID: 21285074
  • Pignatelli R.H. et al. 2003. Circulation. 108: 2672-8. PubMed ID: 14623814
  • Sadoulet-Puccio H.M. et al. 1997. Neurogenetics. 1:37-42. PubMed ID: 10735273
  • Sandhu R. et al. 2008. Echocardiography. 25: 8-12. PubMed ID: 18186774
  • Vatta M. et al. 2003. Journal of the American College of Cardiology. 42: 2014-27. PubMed ID: 14662268
  • Wald R. et al. 2004. The American Journal of Cardiology. 94: 1581-4. PubMed ID: 15589025


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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