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Mapmygenome now offers Exome Sequencing for genetic diagnosis and clinical interpretation. With high-precision reporting, detailed analysis and easy-to-read reports, this service empowers you to make the right decisions for diagnosis and/or treatment.

This includes:

  • Clinical report for genetic diagnosis
  • Personalised Genetic Counseling session (~45 mins)
  • Recommendations and guidelines from our counsellor. This may include other screening tests if any.

A physician's summary or a genetic counseling session is strongly recommended, to enable accurate analysis and interpretation.

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What is Whole Exome Sequencing?

Whole Exome Sequencing (WES) is a technique for sequencing the exonic regions on the DNA. Exome comprises about 1-2% of the whole GENOME, CODES FOR ~23,000 GENES IN HUMANS. Being the protein coding region, ~85% OF disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs are clinically associated with the exomes, sequencing the entire exome can provide detailed insights on the genetic variations.



To Diagnose the disease -causing variants associated with the suspected cases.


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 WES Recommended?

  • Molecular Diagnosis - identify the variations in the exon regions, 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.
  • Test for single-gene and multigene conditions. Ideal for targeted management of complex syndromes. - neurodevelopmental disorders, intellectual disability, global developmental delay, autism spectrum disorder.
  • To end the Diagnostic Odyssey.
  • Provide accurate recurrence risks for family members & prognosis.



Extensive coverage of all genes in the human genome ~23000 genes & mitochondrial genes with 150-180X coverage


Comprehensive detection of & analysis of both CNV’s & SNV’s. Raw data is analyzed using a comprehensive bioinformatics pipeline.


Pathogenic, Likely Pathogenic, VuS are reported as per the ACMG & ClinVar guidelines


Covers more than 98% of targeted exons, with a Sensitivity of 95.9% & Specificity of 98.7%

Genetic counselling - to guide through the report and discuss the availability management/treatment options in case of clinical findings

Primary findings are reported according to the clinical phenotype. Incidental findings and carrier findings are reported as per ACMG and ACOG recommendations.



CVS Sample/Amniotic Fluid/Cultured Cells - Cell Pellet in 1.5mL tube


Extracted DNA samples (1µg - 2µg)


3-4ml EDTA Blood


FFPE (Formalin-Fixed Paraffin-Embedded) Sample - Somatic cases

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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Whole Exome Sequencing

1. What is exome sequencing?

2. When should whole exome sequencing be considered?

3. Is my WES report kept confidential?

4. Is it possible to get a copy of the raw data?