Left Ventricular Noncompaction (LVNC) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
1333 ACTC1 81405,81479 Order Options and Pricing
DTNA 81479,81479
LDB3 81406,81479
LMNA 81406,81479
MYBPC3 81407,81479
MYH7 81407,81479
TAFAZZIN 81406,81479
TNNT2 81406,81479
VCL 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
1333Genes x (9)81479 81405, 81406, 81407, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

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). Prevalence 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).

Genetics

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 (TAZ) manner (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010). Mutations in TAZ causes Barth syndrome, which can have LVNC as one of the symptoms. See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Up to 20-30% of adults with LVNC are expected to have a pathogenic mutation in one of the genes in this panel (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010).

Very few gross deletions, duplications and complex rearrangements have been reported in patients with LVNC. Gross deletions and/or complex rearrangements have been reported in LMNA, MYBPC3, MYH7 and TAZ.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides full coverage of all coding exons of the genes 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Individuals with LVNC.

Genes

Official Gene Symbol OMIM ID
ACTC1 102540
DTNA 601239
LDB3 605906
LMNA 150330
MYBPC3 600958
MYH7 160760
TAFAZZIN 300394
TNNT2 191045
VCL 193065
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. 1990. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82: 507–513. PubMed ID: 2372897
  • Hermida-Prieto et al. (2004) Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol. 94:50-4 PubMed ID: 15219508
  • Hoedemaekers et al. 2010. The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy. Circulation: Cardiovascular Genetics 3: 232–239. PubMed ID: 20530761
  • Ichida et al. (2001) Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 103:1256-63 PubMed ID: 11238270
  • Jefferies JL. 2013. Barth syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 163: 198–205. PubMed ID: 23843353
  • Klaassen et al. (2008) Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 117:2893-901 PubMed ID: 18506004
  • Oechslin E, Jenni R. 2011. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? European Heart Journal 32: 1446–1456. PubMed ID: 21285074
  • Pignatelli et al.  2003. Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy. Circulation 108: 2672–2678. PubMed ID: 14623814
  • Sandhu et al. 2008. Prevalence and characteristics of left ventricular noncompaction in a community hospital cohort of patients with systolic dysfunction. Echocardiography 25:8-10. PubMed ID: 18186774
  • Vatta et al. (2003) Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 42:2014-27 PubMed ID: 14662268
  • Wald et al. 2004. Determinants of outcome in isolated ventricular noncompaction in childhood. Am J Cardiol 94:1581-4 PubMed ID: 15589025

Ordering/Specimens

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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