Left Ventricular Noncompaction (LVNC) Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 1333 | Genes x (13) | 81479 | 81405(x2), 81406(x4), 81407(x2), 81479(x18) | $990 | 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 Custom Panel tool.
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).
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.
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 (TAFAZZIN) manner (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010). Mutations in TAFAZZIN 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 TAFAZZIN.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 98.9% 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. 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
Individuals with LVNC.
Individuals with LVNC.
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| ACTC1 | 102540 |
| DTNA | 601239 |
| HCN4 | 605206 |
| LDB3 | 605906 |
| LMNA | 150330 |
| MIB1 | 608677 |
| MYBPC3 | 600958 |
| MYH7 | 160760 |
| PRDM16 | 605557 |
| TAFAZZIN | 300394 |
| TNNT2 | 191045 |
| TPM1 | 191010 |
| VCL | 193065 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
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.
- 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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.