Health Screening

Benefits

Process

Sample collection is performed using peripheral venous blood or saliva, depending on the selected testing method. Blood samples should be collected in an EDTA tube and handled according to molecular testing standards.

After specimen receipt, DNA is processed for sequencing and bioinformatic evaluation of inherited risk-associated variants. Results are interpreted in relation to disease susceptibility and preventive healthcare planning rather than diagnostic confirmation.

The final report supports personalized prevention by identifying genetic predisposition patterns relevant to chronic disease screening, lifestyle planning, and long-term health management.

FOR LABORATORIES

Specimen Requirements

Sample Type

• Peripheral venous blood or saliva

Collection Tube

• EDTA (lavender-top tube) for blood samples

Volume

• 2-4 mL whole blood

Handling Instructions

• Store at 2-8°C if not processed immediately
• Avoid contamination and hemolysis
• Transport according to molecular testing standards

Turnaround Time (TAT)

• Approximately 3-6 weeks depending on panel size and analysis complexity

Clinical Utility

• Early identification of disease susceptibility
• Personalized prevention and screening strategies
• Improved long-term health planning
• Risk stratification for chronic diseases
• Integration into precision medicine approaches

Limitations

• Does not diagnose disease, only indicates risk
• Environmental and lifestyle factors significantly influence outcomes
• Risk estimates may vary between populations
• Not all genetic risk factors are currently known
• Clinical interpretation should be combined with medical evaluation

How it works

After sample collection, DNA is extracted and analyzed using targeted Next-Generation Sequencing panels or Whole Exome Sequencing, depending on the scope of testing. The assay evaluates clinically relevant genetic variants associated with predisposition to common and complex diseases.

The analysis includes genes linked to multifactorial disorders, selected risk-associated polymorphisms, and polygenic risk markers where applicable. Bioinformatic interpretation integrates variant annotation, population databases, and published clinical evidence to generate individualized predisposition profiles.

The final report provides disease-specific genetic risk assessment, including low, moderate, or high risk categorization where applicable, together with preventive recommendations based on the identified findings.

FOR LABORATORIES

Methodology

• Targeted Next-Generation Sequencing panel or Whole Exome Sequencing depending on test scope
• Analysis of genes associated with multifactorial and complex diseases
• Assessment of polygenic risk-associated variants where applicable
• Interpretation based on validated risk markers and published clinical evidence

Genomic Coverage

• Genes associated with common and complex diseases
• Polygenic risk-associated variants based on SNP analysis where applicable
• Clinically validated genetic risk markers

Detection Capabilities

• Single Nucleotide Variants (SNVs)
• Small insertions and deletions (indels)
• Selected risk-associated polymorphisms (SNPs)

Bioinformatics and Interpretation

• Variant annotation and risk stratification
• Integration with population databases
• Calculation of relative risk and predisposition profiles
• Interpretation aligned with GWAS data, ClinVar, OMIM, polygenic risk models, and published clinical evidence

Clinical Application Areas

Cardiovascular Disease Risk

• Coronary artery disease
• Hypertension
• Thrombosis

Metabolic Disorders

• Type 2 diabetes
• Obesity
• Dyslipidemia

Neurodegenerative Disorders

• Alzheimer’s disease
• Parkinson’s disease

Autoimmune and Inflammatory Diseases

• Multiple sclerosis
• Rheumatoid arthritis
• Inflammatory bowel disease

Cancer Susceptibility

• Breast cancer
• Colorectal cancer
• Prostate cancer