Invitae Left Ventricular Noncompaction Panel


Test description

This test is for individuals with a clinical diagnosis of left ventricular noncompaction (LVNC). The Invitae Left Ventricular Noncompaction Panel includes genes that are associated with LVNC or other inherited cardiomyopathy conditions that may present with clinical features similar to LVNC.

Individuals with clinical symptoms of LVNC may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, or inform management.

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Primary panel (15 genes)


MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.

Add-on preliminary-evidence genes (4 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


Alternative tests to consider

LVNC can also be ordered as part of broader panels to test for cardiomyopathy disorders. Depending on the individual’s clinical and family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered at no additional charge.

  • Left ventricular noncompaction (LVNC)

Some of these genes on this panel are also associated with other disorders.

Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by a spongy (noncompacted) appearance of the left ventricle and prominent trabeculations. Individuals may be asymptomatic, but common symptoms include arrhythmia, heart failure, and/or thromboembolism. LVNC can be seen in the context of congenital structural heart disease in children.

LVNC typically exhibits an autosomal dominant inheritance pattern. Barth syndrome and Danon disease, inherited cardiomyopathy conditions that may present with clinical features similar to LVNC, are X-linked disorders.

LVNC exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop LVNC will go on to manifest the disorder. Symptoms are variable, even among affected members of the same family.

The prevalence of LVNC has not been well established, but it is estimated that approximately 1 in 2,000 adults are affected. Recent studies have found that LVNC accounts for 9% of cardiomyopathy diagnoses in children.

This panel may be considered for individuals with a suspected diagnosis of LVNC.

For links to published management guidelines for cardiology conditions, please refer to our Management guidelines page.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTC1 NM_005159.4
DSP NM_004415.2
DTNA NM_032978.6
HCN4 NM_005477.2
LAMP2 NM_002294.2, NM_013995.2
LDB3 NM_001080116.1, NM_001171610.1
LMNA NM_170707.3
MYBPC3* NM_000256.3
MYH7 NM_000257.3
PLEKHM2 NM_015164.2
PLN NM_002667.3
PRDM16 NM_022114.3
RYR2 NM_001035.2
SCN5A NM_198056.2
TAZ NM_000116.4
TNNI3 NM_000363.4
TNNT2 NM_001001430.2, NM_000364.3
TPM1 NM_001018005.1
VCL NM_014000.2

MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.