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Left Ventricular Noncompaction Panel

The Left Ventricular Noncompaction Panel is a comprehensive  next-generation (NGS) panel that can be used to confirm a clinical diagnosis of left ventricular noncompaction or identify at-risk individuals. Left ventricular noncompaction is a form of cardiomyopathy characterized by trabeculations, which are bundles of muscle fibers that extend into the left ventricle. Some individuals with this condition exhibit heart failure, arrhythmias, or thromboembolism, although some individuals may be asymptomatic. Left ventricular noncompaction can be found in patients who also have another form of heart disease, including dilated, hypertrophic, or restrictive cardiomyopathy, or in children with congenital heart disease.


Left ventricular noncompaction affects approximately 1 in 2000 individuals, with some estimates as high as 1 in 500 (Ronderos et al, 2016).

Included disorders

This panel includes genes related to left ventricular noncompaction as well as genes associated with disorders that include left ventricular noncompaction as a feature. These disorders include:

  • Left ventricular noncompaction
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Barth syndrome
  • Danon disease

Inheritance and Penetrance

In most cases left ventricular noncompaction is inherited in an autosomal dominant fashion, although in some cases it is inherited in an X-linked or recessive manner. Incomplete penetrance and variable expressivity has been reported in left ventricular noncompaction (Hoedemaekers et al, 2010).

Clinical Sensitivity

A genetic mutation causing left ventricular noncompaction can be identified in up to 20-40% of patients (Klaassen et al, 2008; Hoedemaekers et al, 2010).

Methodology & Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is 99.5%.

Indications for testing

  • Confirmation of a clinical diagnosis
  • Unexplained cardiac arrest
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of left ventricular noncompaction

Included Genes (17)



Optional Additions to Left Ventricular Noncompaction Panel

Emerging Evidence Genes (2)

Emerging evidence genes can also be added on to the comprehensive panel. These genes do not have a clear association with left ventricular noncompaction, but emerging evidence suggests that they may play a role in disease:



  1. Hoedemaekers YM, Caliskan K, Michels M, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet. 2010;3(3):232-9.
  2. Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117(22):2893-901.
  3. Ronderos R, Avegliano G, Borelli E, Kuschnir P, Castro F, Sanchez G, Perea G, Corneli M, Zanier MM, Andres S, Aranda A, Conde D, Trivi M, Estimation of Prevalence of the Left Ventricular Non Compaction Among Adults, The American Journal of Cardiology (2016), doi: 10.1016/ j.amjcard.2016.06.033.