• Medical Genetics and Genomics Test for detecting, prevention, and treatment of Hereditary Cardiovascular Diseases

  • Test is recommended for people with family history of hereditary cardiovascular diseases

  • Uses Next-Generation Sequencing technology to analyze whole exome (the protein-encoding regions of 20,000 - 24,000 genes) with high coverage of 200X

  • Medically certified genomics tests performed by American certified medical geneticists (Fellows of American College of Medical Genetics and Genomics)

  • Detects germline variants that increase risk for the following set of cardiovascular conditions:


  1. Congenital heart disease (including CHARGE syndrome, Holt-Oram syndrome, RASopathies, Sotos syndrome, Heterotaxy and Situs Inversus)

  2. Pulmonary hypertension (including pulmonary arterial hypertension, Hereditary Hemorrhagic Telangiectasia)

  3. Familial Hypercholesterolemia

  4. Aortopathy and connective tissue disorders (including Marfan syndrome, Loeys- Dietz syndrome, Ehlers-Danlos syndrome, dolichoectasia, vascular malformations, Alport syndrome)

  5. Cardiomyopathy and skeletal muscle disease (including metabolic disorders, mitochondrial disorders, arrhythmogenic cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, RASopathies, left ventricular noncompaction, transthyretin amyloidosis, hereditary hemochromatosis, Cardio-Facio-Cutaneous syndrome)

  6. Conduction disorders and related conditions (including arrhythmias, sudden unexpected death in epilepsy (SUDEP), Brugada syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Long QT Syndrome (LQTS), Short QT Syndrome (SQTS), Atrial Fibrillation, Sudden Cardiac, Arrest Arrhythmia)

  7. Hemiplegia/Stroke

  • Confirmation analysis with gold standard tests using Microarray (Illumina iScan) and Sanger Sequencing

  • Test reports provide valuable information for prevention,  screening and intervention of cardiovascular diseases.




Cardiovascular disease (CVD) is a leading health problem and encompasses a broad range of disorders including diseases of the vasculature, the myocardium, the heart’s electrical circuit, and congenital heart disease. For nearly all of these disorders, inherited DNA sequence variants play a role in conferring risk for disease. The Cardiovascular Disease Screening test is indicated for all individuals who would like to gain insights about their carrier status or predisposition status for cardiovascular conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge, the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state. 

Home Nurse Examining Patient

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain cardiovascular conditions who would like to be screened for cardiovascular conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 - 24,000 genes and about 2% of the genome.


Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are, therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance, or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient. 

Microarray allows for the genotyping of specific variations or polymorphisms associated with cardiovascular conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome. 




WES will be performed on the patient and their family members to target the exonic regions of their genomes. These regions will be sequenced using the Illumina NovaSeq 6000 with 100-150 bp paired-end reads. The DNA sequence will then be mapped to, and analyzed in comparison with, the published human genome build (UCSC hg19 reference sequence). The targeted coding exons and splice junctions of the known protein-coding RefSeq genes will be assessed for the average depth of coverage (minimum average coverage of 80X for WES and 15X-30X for WGS) and data quality threshold values. Sequence changes in the patient will be compared to the other provided family members.


All reportable sequence variants will be confirmed by Sanger sequence analysis using a separate DNA preparation. Average quality thresholds may range from >90-95% of the targeted region, indicating a small portion of the target region may not be covered with sufficient depth or quality to confidently call variant positions. In addition to Next Generation Sequencing (NGS) for capturing the whole exome, microarray method using Illumina iScan technology, will be used to capture regions of the genome that are within and outside of the protein-coding genes (i.e. intergenic). 

Scientist on Computer