CoGenesis® CVD
Comprehensive hereditary cardiovascular disease panel
CoGenesis® CVD is a comprehensive genomic profiling tool utilizing Next-Generation Sequencing (NGS) to analyze 506 genes associated with inherited cardiovascular diseases. The assay is divided into 21 clinically actionable sub-panels, allowing for targeted analysis based on patient phenotype, including hypertrophic cardiomyopathy (HCM), Long QT syndrome (LQTS), and familial hypercholesterolemia (FH).
- Precision Management: Identification of likely pathogenic variants, which may refine risk stratification and influence therapeutic choices.
- Cascade Screening: Detection of a familial variant enables targeted testing for at-risk relatives, facilitating early intervention and longitudinal surveillance.
- Differential Diagnosis: Assists in distinguishing between overlapping phenotypes where clinical presentation may be ambiguous.
Diagnosing acquired heart disease (e.g., lifestyle‑related); predicting exact onset age.
21 sub-panels included:
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99% | |
| Variant calling – Indel | >99% |
4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab
Preferred sample type:
- 4mL Blood (EDTA tube),
- Codex-provided buccal swabs (4 swabs)
- Codex-provided saliva collection kit (2mL)
Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.
- Insufficient DNA quantity or poor DNA quality
- Improperly labeled or contaminated samples
- Degraded specimens due to incorrect storage or transport
- Non-human samples or inappropriate specimen types
Samples must be collected and submitted by a licensed healthcare professional.
- Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
- Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
- Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
- Positive findings can inform risk‑reducing strategies and treatment options.
- Genetic counseling is recommended to help families understand implications.
Inherited Cardiovascular Diseases (ICVDs) are a diverse group of genetic disorders that significantly contribute to morbidity and mortality, often manifesting as Sudden Cardiac Death (SCD) in young and otherwise healthy individuals.
The 506-gene panel is strategically designed to address the major categories of ICVD:
Cardiomyopathies Conditions such as Hypertrophic Cardiomyopathy (HCM) and Dilated Cardiomyopathy (DCM) are often caused by mutations in sarcomere or desmosomal genes.
Arrhythmias (Channelopathies) Inherited primary electrical diseases, such as Long QT Syndrome (LQTS) and Brugada Syndrome, result from variants in ion channel genes.
Aortopathies and Connective Tissue Disorders Conditions like Marfan Syndrome or Loeys-Dietz Syndrome carry a high risk of thoracic aortic aneurysms and dissections.
Lipid Disorders Familial Hypercholesterolemia (FH) is one of the most common inherited conditions, significantly increasing the risk of premature coronary artery disease.
Variants are classified according to ACMG/AMP guidelines. Reports provide clear categorization (Pathogenic, Likely Pathogenic, and VUS), integrated with current clinical evidence to support multidisciplinary heart team decisions.
Hong Kong-based molecular diagnostics laboratory specialising in clinical genomics, precision oncology, and rare disease diagnosis. Accredited to ISO 27001 and GenQA standards.
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