WHOLE EXOME SEQUENCING (WES)

Whole Exome Sequencing (WES) is an advanced genomic testing approach that utilizes Next-Generation Sequencing (NGS) technology to analyze the protein-coding regions (exons) of more than 22,000 human genes.

Although exons comprise only approximately 1–2% of the human genome, they harbor nearly 85% of known disease-causing genetic variants. WES enables the identification of the molecular basis of thousands of rare, complex, and previously undiagnosed genetic disorders.

WES can identify a broad spectrum of clinically relevant genetic alterations, including:

• Single Nucleotide Variants (SNVs)
• Small insertions and deletions (Indels)
• Large Copy Number Variations (CNVs >400 kb)
• Variants located within exon-adjacent intronic regions (approximately 10–20 bp from exon boundaries)

WES Plus

The expanded WES Plus version includes analysis of 37 mitochondrial genes, providing additional diagnostic value for disorders associated with:

• Inherited metabolic diseases
• Neurological disorders
• Neuromuscular disorders
• Mitochondrial diseases
• Clinical Applications

WES supports a wide range of clinical indications, including:

• Identification of the genetic etiology of previously undiagnosed disorders
• Diagnosis of rare diseases and multisystem genetic conditions
• Personalized treatment planning and precision medicine
• Genetic counseling for affected families and reproductive planning
• Detection of pathogenic variants in children with:
• Developmental delay
• Intellectual disability
• Epilepsy
• Autism spectrum disorder
• Neurodevelopmental and metabolic disorders

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

Recommendations:

• Submission of parental samples (trio analysis) is strongly recommended to improve variant interpretation and diagnostic yield.
• Detailed clinical information and family history should accompany the sample submission.

Turnaround time: 6–8 weeks

• Comprehensive analysis of all protein-coding regions of the genome
• High diagnostic accuracy enabled by advanced NGS technology
• Reduced time and cost compared with multiple sequential genetic tests
• Supports personalized disease management and preventive healthcare strategies
• Who Should Consider WES?
• Children presenting with developmental, neurological, or cognitive abnormalities
• Individuals with suspected genetic disorders of unknown etiology
• Families with a history of congenital anomalies, rare diseases, or unexplained genetic conditions
• Couples planning pregnancy, particularly those with a history of recurrent miscarriage, stillbirth, or adverse pregnancy outcomes
• Patients who have undergone multiple investigations without obtaining a definitive diagnosis