Comprehensive Cardiovascular Panel
Available November 16, 2026. A 171-gene diagnostic test for hereditary cardiovascular conditions, including cardiomyopathy, arrhythmia, inherited aortopathy, hereditary lipidemia, thrombophilia, and syndromic conditions with cardiac involvement.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days or less
Genes Tested
171
Test Description
The Helix Comprehensive Cardiovascular Panel (CCAR1) evaluates 171 genes associated with hereditary cardiovascular conditions, including cardiomyopathies and channelopathies, inherited aortopathies, hereditary lipidemias, thrombophilia, and syndromic and neuromuscular conditions with significant cardiac involvement.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
A relevant personal and/or family history suggestive of a hereditary cardiovascular condition, including: cardiomyopathy, arrhythmia, unexplained syncope or sudden cardiac death, thoracic aortic aneurysm or dissection, severe or early-onset dyslipidemia, and venous thromboembolism.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary cardiovascular conditions. Extracted DNA is enriched for targeted regions and sequenced using the Helix Exome+® assay on an Illumina DNA sequencing system. Data is aligned to a modified version of GRCh38 and analyzed using the MANE and MANE Plus Clinical transcripts, when available. Variant interpretation follows ACMG/AMP guidelines, with modifications by ClinGen Variant Curation Expert Panels when available. Variants classified as pathogenic, likely pathogenic, or variants of uncertain significance (VUS) are included in the report. Benign and likely benign variants are not reported but are available on request.
Technical Specifications
Sensitivity and specificity for single nucleotide variants and insertions and deletions up to 20 bp
> 99.9% (validation studies)
CNV Sensitivity (multi-exon)
> 99% (validdation studies)
CNV Sensitivity (single-exon)
> 90% (validation studies)
Genomic Build
GRCh38 (modified)
Larger indels and complex variants are also reported
Sensitivity may be reduced
Limitations
This test may not detect variants in challenging regions (such as short tandem repeats, homopolymer runs, and segment duplications), sub-exonic CNVs, chromosomal aneuploidy, or variants in the presence of mosaicism. Structural rearrangements such as inversions, translocations, complex rearrangements, and gene conversions are not tested in this assay unless explicitly indicated. Deep intronic, promoter, and enhancer regions may not be covered. A negative result does not guarantee that the tested individual does not carry a rare, undetectable variant in the genes analyzed. Incidental findings outside of these genes and conditions will not be identified or reported. Results may be influenced by bone marrow transplantation, blood transfusions, or, in rare cases, hematolymphoid neoplasms.
Genes Tested
171 genes included in this panel
Ordering Information
Turnaround Time
Typically 6 to 21 days from sample receipt (standard). Typically ≤ 5 days (requery / Sequence Once Query Often® (SOQO)®).
Preferred Specimen
Blood or buccal swab
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
Hereditary cardiovascular conditions span a broad range of disorders affecting the structure and function of the heart and blood vessels. The conditions covered by this panel include cardiomyopathies, in which the heart muscle is structurally or functionally abnormal and may lead to heart failure, arrhythmia, and sudden cardiac death, and channelopathies, which are electrical disorders of the heart that can predispose to life-threatening arrhythmias without structural abnormality. Inherited aortopathies, hereditary lipidemias, and thrombophilia are also covered. The syndromic and neuromuscular conditions on the panel are those in which cardiac involvement is a primary or defining feature. Inheritance across the panel may be autosomal dominant, autosomal recessive, X-linked, or mitochondrial. Identification of a pathogenic variant can establish a molecular diagnosis, guide condition-specific management and surveillance, and support cascade testing in at-risk family members.
Some genes on this panel are also associated with other conditions for which a predisposition to, or carrier status of, may be identified incidentally. Examples from the test description include Alzheimer's disease, cataracts, Charcot-Marie-Tooth disease, atrial septal defects, and congenital heart disease. The full list is in the test description.
Frequently asked questions
What conditions does this panel cover?
Does this panel cover Marfan syndrome and Loeys-Dietz syndrome?
Does this panel cover thrombophilia?
Does this panel include lipid genes?
What variant types does this test detect?
Ready to order the Comprehensive Cardiovascular Panel?
If your health system has the test built into your EHR, you can order it directly from there. Otherwise, you can use the Helix provider portal to place an order.