WHOLE GENOME SEQUENCING (WGS)

Whole Genome Sequencing (WGS) is the most comprehensive genomic testing technology currently available in clinical genetics. Utilizing Next-Generation Sequencing (NGS), WGS analyzes the entire human genome, encompassing approximately 3 billion base pairs.

Unlike targeted or exome-based approaches, WGS evaluates both:

• Coding regions (exons) of more than 22,000 genes
• Non-coding regions, including:
• Introns
• Regulatory elements
• Intergenic regions
• These regions may contain clinically significant pathogenic variants that are not detectable by conventional genetic testing methods.

WGS EXPAND is an advanced version of WGS that incorporates additional analytical capabilities to improve diagnostic performance.

Key Features

• Comprehensive analysis of all 3 billion nucleotides across the human genome
• Evaluation of both coding and non-coding genomic regions
• Detection of large structural genomic abnormalities, including deletions and duplications >400 kb
• Integrated mitochondrial DNA (mtDNA) sequencing for assessment of maternally inherited disorders within the same assay

• Single Nucleotide Variants (SNVs)
• Small insertions and deletions (Indels)
• Pathogenic variants located in non-coding regions
• Large structural genomic abnormalities, including deletions and duplications (>400 kb)
• Disease-associated genomic alterations potentially missed by conventional testing approaches

Clinical Applications of WGS/WGS EXPAND

• Identification of the genetic causes of rare and complex diseases
• Early and accurate diagnosis, even in patients with nonspecific clinical manifestations
• Personalized therapeutic decision-making based on individual genomic profiles
• Genetic counseling and reproductive planning for families at risk
• Detection of disease-predisposition variants for preventive healthcare strategies

• Specimen type: Peripheral blood
• Sample volume: 3–5 mL collected in an EDTA tube

Recommendations:

• Submission of parental samples is recommended to enhance variant interpretation accuracy.
• Relevant clinical information, family history, and phenotypic data should be provided.

Turnaround time: 8 weeks

• The most comprehensive genomic analysis currently available
• Improved diagnostic yield in challenging and previously unresolved cases
• Long-term data storage and future re-analysis capability
• Suitable for both clinical diagnostics and biomedical research
• Integrated mitochondrial genome sequencing without requiring separate testing