What is Whole Genome Sequencing (WGS)?

Analyses the entire genome, including coding and non-coding regions. Detects variants missed by WES, including CNVs, mitochondrial DNA changes, and clinically actionable pharmacogenomic markers.

Benefits of Whole Genome Sequencing (WGS)

• Provides a comprehensive analysis of the entire genome, including both coding and non coding regions
• Detects a wide range of genetic variations, including SNVs and indels
• Enables accurate identification of copy number variations (CNVs)
• Allows analysis of the mitochondrial genome
• Identifies pharmacogenomic markers for personalized treatment
• Improves diagnostic yield in complex cases
• Supports early diagnosis and targeted management
• Provides information for family screening and counseling

Who Can Benefit from WGS?

• Children with undiagnosed or complex genetic conditions
• Patients with rare or multisystem disorders
• Individuals with suspected mitochondrial diseases
• Families with hereditary disorders
• Couples planning pregnancy or carrier screening
• Patients with inconclusive WES or prior testing