Whole Exome Next Generation Sequencing Test


Whole Exome Next Generation Sequencing Test

DNA Diagnostics offers the only commercially available whole exome next generation sequencing test for clinical diagnostic use. This disease-specific test has already proven to be a valuable tool in the detection of rare genetic disorders without the limitations associated with other tests based on microarray technology.


Whole Exome Sequencing NGS Test covers 180,000 exons

25% Discount

Whole Exome Next Generation Sequencing Test Cost 28000/- Rs after discount


Get Whole Exome Next Generation Sequencing Test results in 4 weeks

Whole Exome Next Generation Sequencing

Test typePhysician
Pre-test InformationDoctor’s Prescription is required
Report Delivery4 Weeks
ComponentsCovers all genes associated with known clinical phenotypes
Price₹ 28000

What is Whole Exome Sequencing?

WES is a cost-effective alternative to Whole Genome Sequencing. The human exome consists of approximately 180,000 exons, which constitutes about 1-2% of the human genome.
These exon protein-coding regions harbour variants which are much more likely to have severe consequences than those in the remaining 99% of the genome.
Instead of incurring the time and cost of sequencing the whole genome, many researchers and clinicians can obtain the decision-making data they need by sequencing the exome.

What variants can Whole Exome Sequencing identify?

Whole Exome Sequencing can identify genetic variants responsible for:

Mendelian diseases such as Huntington’s disease
Somatic variants linked to various cancers
Diseases such as Alzheimer’s and autism which have an underlying genetic component
Influencing an individual’s response to a specific pharmacological regimen

Who should have Whole Exome Sequencing?

WES can be done in pregnancy, childhood or adulthood. It is usually done for one or more of the following reasons:

You are (or your child is) suspected to have a genetic condition
Many different genes can cause you’re (or your child’s) symptoms
You (or your child) have a complicated medical history that affects many organs and/or body systems.

Benefits of the Whole Exome Sequencing:

The Whole Exome Sequencing may find a genetic cause for your or your child’s signs and symptoms. This may help guide medical care.
Whole exome sequencing is attractive for clinical application mainly because it covers actionable areas of the genome to determine the variations in the exon regions and identify causal variants of a disease or disease-causing mutations.
Exome sequencing is only able to identify those variants found in the coding region of genes which affect protein function. The majority of causative variants identified so far in Mendelian disease have been found in the coding regions.

How does Whole Exome Sequencing work?

During the library preparation, genomic DNA is fragmented, and targeted regions are captured by hybridization using biotinylated oligonucleotide probes in solution.
The Whole Exome Sequencing is done using a superior technology called next-generation sequencing (NGS). There are many Next Generation Sequencing sequencing platforms available, postdating classical Sanger sequencing methodologies.
The patient’s DNA is then compared to a reference sample in an attempt to find any differences between the patient’s DNA and the reference DNA.

What Is Included in the Report?

Primary Result Genetic changes in genes that are likely related to your or your child’s condition will be discussed in detail in the report.
Genetic changes identified in family members and related to your or your child’s primary result will also be included in the patient’s report.
Genetic changes in genes that are not associated with your or your child’s current disease, but which may have a significant impact on health, will be included in the patient’s report unless you tell us that you do not want this information.
Next Generation Whole Exome Sequencing WES Test in India Costs 28000 Rs
Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome. The human exome represents less than 2% of the genome but contains ~85% of known disease-related variants,1 making this method a cost-effective alternative to whole-genome sequencing.
Patient with undiagnosed genetic disease (extensive evaluation and multiple genetic tests, without identifying the aetiology)

Patients presenting with Heterogeneous phenotypes

Intellectual disability / developmental delay

Cardiomyopathy; Epilepsy; Undiagnosed metabolic disorder; Immunodeficiency
During the library preparation, genomic DNA is fragmented, and targeted regions are captured by hybridization using biotinylated oligonucleotide probes in solution. The captured target sequences are isolated using streptavidin beads, and after washing and elution steps, are used for subsequent amplification and sequencing.
Next-generation Sequencing Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.
.Next-generation sequencing (NGS) is a massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed. The technology is used to determine the order of nucleotides in entire genomes or targeted regions of DNA or RNA.
Enables comprehensive coverage of exons to target medically relevant genomic regions, including known disease-associated sites and untranslated regions (UTRs)

Increases variant discovery potential, including rare and low-frequency mutations using next-generation sequencing (NGS) technology.

Eliminates the need to sequence the entire genome, offering a cost-effective alternative to WGS
The reports takes 4-5 weeks

Feel Free to contact us for any genetic DNA test enquires

For any inquiries relating to Whole Exome Next Generation Sequencing Test services feel free to speak to our certified genetic counsellors personally by call us during business hours. All Conversation is 100% confidential and Private.

Head office address:

DNA Diagnostics 204 2nd Floor GS towers Himayat Nagar Hyderabad 500029 India

Call for help:

(040) 49171772

Mail for information: