Whole Genome Sequencing

Service Description

Whole-genome sequencing (WGS) is a comprehensive method for analyzing the entire genome (3 billion nucleotides). Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks. Rapidly dropping sequencing costs and the ability to produce large volumes of data with today’s sequencers make whole-genome sequencing a powerful clinical tool. Whole Genome Sequencing (WGS) analyzes the complete genome 98% of the human DNA. WGS helps identify the variants in the entire genome rather than a few selected regions. Ideal for molecular diagnosis and confirmation of heterogeneous, rare & complex disease. Making a diagnosis: Some genetic conditions can pose a diagnostic challenge that simply cannot be addressed by single-gene testing. WGS offers the most comprehensive solution for a genetic diagnosis. Precision medicine: WGS analyses changes in DNA to identify medication that aligns with your DNA, avoiding the time-consuming and frustrating trial-and-error approach to treatment for diseases such as cancer, diabetes, heart disease, etc. Disease prevention: Genetic predispositions for diseases are encoded in DNA. WGS can identify such predispositions to inform the implementation of a strategic prevention plan based on your DNA. CLINICAL UTILITY: -Diagnosis and confirmation of many complex diseases by the analysis of disease causing variants in coding and non-coding regions of the DNA. -Differentiation between de novo(new unexplained mutations) and familial history of disorders. -To influence the management of the conditions/disorders in a better way including lifestyle interventions. WHEN IS WGS RECOMMENDED? -Molecular Diagnosis - identify variants of a disease or disease-causing mutations associated in suspected cases. -Undiagnosed Conditions - In cases where no diagnosis has been made, but clinical presentation is suggestive of a genetic condition. -Detect disease-causing heterozygous variants in genes associated with autosomal dominant conditions, homozygous/compound heterozygous variants in genes associated with autosomal recessive conditions -Ideal for targeted management of complex & rare syndromes. -To end the Diagnostic Odyssey -Provide accurate recurrence risks for family members & prognosis. Sample type: Blood in EDTA TAT: 8 weeks