What is Whole Genome Sequencing?

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.

When is WGS Recommended?

• Extensive coverage of 95-98% of the entire genome
• High density screening for genetic conditions with 30X coverage
• Genetic counselling - to guide through the report and discuss the availability management/treatment options in case of clinical findings
• Detailed analysis for all known autosomal recessive conditions, including international recommendations from ACOG, ACMG.
• Efficient bioinformatics analysis of variants and interpretation workflows.