Whole Exome Sequencing

Accurate diagnosis for rare genetic disorders

Connect with Our Experts

To Book a Test,
Call 1800 296 9696

What is the Whole Exome Sequencing (WES) Test?

The Whole exome sequencing (WES) test is a genetic testing technique that sequences the complete coding region of the genome and examines splice junctions to identify variations across a wide range of genes. Since most known disease-causing mutations take place in the protein-coding regions of the genome (exons), WES genetic testing is far more effective than Whole Genome Sequencing for diagnosing genetic disorders. It provides a comprehensive way to identify genetic mutations associated with a wide range of rare disorders, making it a powerful tool for diagnosing complex genetic medical conditions.

Book a Test Now

Comprehensive Validation and Coverage for Precise Clinical Insights

Parameter	Whole Exome	ExomeMAX
Genes	20,000+	20,000+
Design	43.2 Mb	62.4 Mb
Mitochondrial Genes	Optional	Yes
Coverage	Coding regions	Coding and selective noncoding regions
Application	Novel and known disease	Novel and known disease
CAP Accreditation	Yes	Yes

Clinical Applications of Whole Exome Sequencing Test

Helps confirm diagnoses in patients with complex genetic disorders that may be hard to detect with other tests.
Useful for understanding cases with unusual or unclear symptoms that don’t match typical conditions.
Identifies genetic causes of inherited developmental disorders.
If disease-specific genetic panels do not provide clear answers, the WES test can help provide a diagnosis by examining all coding regions.
Supports informed reproductive choices and helps guide treatment plans and long-term disease management.

Specifications

Sequencing Method: NGS (Next Generation Sequencing).
Coverage Depth: Mean depth of >80-100X across the exome.
Validation: End to end validation based on control samples and 100% concordance based on reported variants for SNPs/InDels and CNVs. CNVs pipeline evaluated by orthogonally validated sample with known copy number variants.
Analysis: Analysis of SNVs/ InDels and CNVs by proprietary interpretation software and backed by largest Indian database of over 3 million variants.
Sample Type: Blood - 3-5ml in EDTA tubes or extracted DNA sample, amniotic fluid and chorionic villus (CVS) sample.

Exome Tests Offered by MedGenome

Whole Exome Sequencing

Detects: Detects SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Optional)
TAT: 19 working days
Test Code: MGM274

Whole Exome Sequencing [Expedited TAT]

Detects: Detects SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Optional)
TAT: 14 working days
Test Code: MGM721

ExomeMAX

Detects: Detects SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Included)
TAT: 19 working days
Test Code: MGM2572

TRIO ExomeMAX

Detects: Detects SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Included)
TAT: 19 working days
Test Code: MGM2731

Key Highlights of MedGenome's Whole Exome Sequencing (WES) Test

Comprehensive Coverage

Covers all protein-coding regions, including splice junctions, ensuring extensive variant detection.

Advanced Pipeline

Clinical-grade pipeline with deep annotation and machine learning-based variant analysis for precise results.

Proficiency Testing

Consistent proficiency testing through external quality monitoring programs to ensure accuracy.

Expert Review

Two levels of analysis and review by expert geneticists to ensure clinical relevance.

CAP Accredited

MedGenome is India's largest CAP-accredited genetic testing lab in India, ensuring high-quality standards and precision in WES genetic testing results.

Largest Database

Access to South Asia’s largest genetic database with over 27 million unique variants identified.

What is Whole Exome Sequencing (WES Test)?

Whole exome sequencing (WES) is a genetic test that involves sequencing all the protein-coding regions and splice junctions. This approach helps detect changes in the protein-coding regions, where around 85% of disease-causing mutations take place. Compared to tests focusing on a limited number of genes, WES offers a more complete analysis, providing full coverage to identify rare gene mutation-related diseases.

Test Methodology Summary	Details
Technology Used	Advanced Next-Generation Sequencing (NGS) on an Illumina platform.
Process	- DNA extraction from a blood sample or other tissues. - About 20,000 genes' exons and intron-exon boundaries are captured. - Sequencing identifies copy number variants (CNVs) and single-nucleotide variants (SNVs). - Over 98% of targeted base pairs are covered at ≥10x coverage with stringent quality control.
Sequencing Technology	Next-Generation Sequencing (Illumina platform).
Coverage	All protein-coding regions, intron-exon boundary regions of ~23,000 genes, and mitochondria-encoded genes.
Sensitivity for CNVs	75-99% depending on variant length.

What Conditions Can a Whole Exome Sequencing Detect?

Whole exome sequencing (WES) is a valuable tool that helps diagnose all inherited Monogenic conditions (Mendalian inheritance). A few indications (but not limited to) are listed below:

Global developmental delay & intellectual disability
Cardiomyopathy
Epilepsy
Metabolic disorders
Immunodeficiencies
Neuromuscular, neuropathies, neurocutaneous, and movement disorders
Skeleton and connective tissue disorders
Endocrinological disorders

How is Whole Exome Sequencing Done?

Who Should Consider Taking Whole Exome Sequencing?

Individuals who have undiagnosed genetic diseases even after a full genetic investigation.
Individuals who may present with heterogeneous symptoms like developmental delay/learning disability, cardiomyopathy, epilepsy or seizures.
Individuals who have symptoms that cannot be classified into a single diagnostic category.
Those seeking a quicker and relatively cost-effective diagnostic tool than the stepwise genetic testing strategies.

What Do Whole Exome Sequencing Test Results Mean?

WES test results typically fall into one of the following categories:

Pathogenic Variant: A genetic change known to cause disorders.
Likely Pathogenic Variant: A variant strongly suspected to be disease-related but requiring further evidence.
Variant of Uncertain Significance (VUS): A genetic change not conclusively linked to disease.
Negative Result: No disease-causing mutations were detected.

Why Choose MedGenome for Whole Exome Sequencing Test?

FAQs

How much does whole exome sequencing cost in India?
In India, whole exome sequencing costs vary depending on the lab. For these tests, MedGenome offers affordable prices, comprehensive assistance, and excellent outcomes. Book an appointment for a consultation now!
What sample is used for whole exome sequencing ?
Whole blood, obtained in EDTA tubes, is a commonly used sample for the whole exome sequencing. The genomic DNA required for accurate analysis and testing is provided by this blood sample, guaranteeing accurate detection of genetic variants.
What is the turnaround time for whole exome sequencing ?
Whole exome sequencing typically takes roughly 19 working days to complete. This timeline covers every step of the procedure, from gathering and processing samples to sequencing and producing an in-depth report on the results.
Are there risks associated with whole exome sequencing ?
Whole exome sequencing is generally considered safe. However, genetic counselling can effectively assist in managing these risks, even though the outcomes may cause emotional distress.
What are the latest advancements in whole exome sequencing technology?
Recent advancements in whole exome sequencing genetic tests include improved sequencing accuracy, better coverage depth, and quicker processing times. These developments allow for more reliable detection of genetic variants and support timely and accurate diagnoses.
Can WES detect genetic mutations not present in the parents?
Yes, the whole exome sequencing can uncover de novo mutations, which are genetic changes that occur in the child but are not found in the parents. This feature makes it an essential diagnostic tool for specific genetic disorders.

Get Genetic Counselling by Our Experts

Connect with Our Experts

MedGenome Patient Stories

The couple had previously endured several miscarriages. Further investigations revealed that these losses were due to chromosomal abnormalities (aneuploidies) in the fetus. During their subsequent IVF...

Reproductive Health

Mr. and Mrs. Swamy’s Journey to Paren...

The first reported case of an X-chromosome variant detected by NIPT, confirmed by karyotyping but missed by FISH, involved Savitha (name changed), a 24-year-old woman from...

Reproductive Health

Story of Ms. Savitha

Mr Arjun (name changed) and Ms Shilpa (name changed) are maternal cousins who were planning to get married. There was no significant clinical history suggestive of...

Reproductive Health

The Journey of Mr. Arjun and Ms. Shilpa

Ravi and Swati, a non-consanguineous couple, lost their child on the 52nd day of life. The infant was suspected of having Maple Syrup Urine Disease (MSUD),...