Whole Genome Sequencing

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.

How Does it Work?


Sample Collection

Your Doctor places a request for the test. The sample is tested for the susceptibility.


Lab Processing

The sample processed using NGS Technique.


Data Analysis

Your genetic sequence is subjected to extensive analysis to extract your health information.


Report Generation

Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.

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