Whole Genome Sequencing

What is Whole Genome Sequencing test?

Whole Genome Sequencing (WGS) is a comprehensive genetic test that reads nearly all DNA in the genome—including coding and non‑coding regions, mitochondrial DNA, and repetitive elements—to detect a wide spectrum of variant types in a single assay. It can identify single‑nucleotide variants, insertions/deletions, copy‑number changes, structural rearrangements, repeat expansions, and mutational signatures, enabling diagnosis across rare disease and cancer applications.

Why consider Whole Genome Sequencing test?

• Broad, efficient diagnosis for rare/complex disease: CES surveys all coding genes at once, useful when the phenotype is unclear or genetically heterogeneous, shortening diagnostic odysseys versus sequential single‑gene/panel testing.
• Actionable clinical impact: Findings can direct targeted management, surveillance, and genetic counselling; many labs periodically reanalyse data to capture newly discovered gene–disease links.
• Cost/time advantages vs WGS: WES focuses on exons where most pathogenic variants reside, often providing higher yield per cost and faster analysis than WGS in many clinical scenarios.

Who should get tested for Whole Genome Sequencing test?

• Patients with suspected genetic disorders after non‑diagnostic prior tests, or when symptoms don’t fit a single gene/panel (e.g., neurodevelopmental delay, epilepsy, cardiomyopathy, metabolic or immunologic conditions, multisystem phenotypes).
• Individuals with early‑onset, severe, or atypical presentations where rapid, comprehensive testing can alter care pathways.
• Cases where sequential testing would be costly/time‑consuming, and a broad first‑line approach is preferred.
• Solo is appropriate when parental samples are unavailable; if feasible, trio testing can help resolve de novo vs inherited variants and slightly increase yield.

More Information about Whole Genome Sequencing test

OTHER NAMES: Genome Sequencing, Comprehensive Genome Analysis,

Whole Genome Sequencing (WGS) is a comprehensive genetic test that reads nearly all DNA in the genome—including coding and non‑coding regions,