Whole Exome Sequencing WES Test

Whole Exome Sequencing WES Test

Disease: Genetics

Method: NGS DNA Sequencing

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Sample Types
  • Blood

20,000.00/- Rs ₹35,000.0042% off

  • Results in : 4 weeks

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Whole Exome Sequencing WES Test Cost 20000 Rs


Test type Physician
Pre-test Information WES provides the right balance of insights and price Whole Genome Sequencing (WGS) takes too long, is often cost-prohibitive, and the data needed is usually in the exonic regions Sanger sequencing and microarray are not cost-effective for large target regions Targeted pre-defined panels often don’t contain all of the data needed for the project
Report Delivery 4 weeks
Components Covers 23000 genes associated with known clinical phenotypes
Price ₹ 20000
Method NGS DNA Sequencing

Whole Exome Sequencing WES Test Details


Short Description

Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, a whole-exome sequencing test examines 23,000 genes simultaneously. Whole-exome sequencing provides a comprehensive outlook on coding genetic variation to a degree that has never been possible before, surpassing traditional methods for the study of common, rare and novel genetic variations, such as SNP arrays or single-locus resequencing studies.

Test Specifications

  • Speciality: Physician

  • Components: Covers 23000 genes associated with known clinical phenotypes

  • Department: MOLECULAR DIAGNOSTICS

  • Shipping Stability: Room 3 days

PreTest Information

WES provides the right balance of insights and price Whole Genome Sequencing (WGS) takes too long, is often cost-prohibitive, and the data needed is usually in the exonic regions Sanger sequencing and microarray are not cost-effective for large target regions Targeted pre-defined panels often don’t contain all of the data needed for the project

Detail Description

What is Whole Exome Sequencing?

The Whole Exome Sequencing Test 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. This test is performed by Next Generation Sequencing. 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. 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

WES provides the right balance of insights and price

  • Whole Genome Sequencing (WGS) takes too long, is often cost-prohibitive, and the data needed is usually in the exonic regions
  • Sanger sequencing and microarray are not cost-effective for large target regions
  • Targeted pre-defined panels often don’t contain all of the data needed for the project

Otogenetics Leverages State of the Art Techniques to Ensure Quality

  • Next-Generation Sequencing (NGS) Service on Illumina HiSeq 2500
  • Sample tracking via LIMS for customers to view projects in real-time
  • Multiple QC steps to ensure the quality of your service
  • Agilent SureSelect Sequencing services (human and other species)

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.

What is the cost of Whole Exome Sequencing?

Whole Exome Sequencing will cost 20000 rs, we have a Trio Whole Exome Sequencing Panel and also we Provide Clinical exome Sequencing

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. A genetic diagnosis may give your family information about the chance that you could have other children affected with the same condition. This information may also be useful for other family members.

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.

Because it is estimated that 85% of disease-causing mutations reside in the exome, a cheaper alternative to whole-genome sequencing, whole-exome sequencing (WES) has become increasingly popular owing to its compromise between cost, genome coverage, diagnostic yield and interpretability.

Exome sequencing is only able to identify those variants found in the coding region of genes that 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 captured target sequences are isolated using streptavidin beads, and after washing and elution steps, are used for subsequent amplification and sequencing.

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. If there are any differences, they are reviewed by expert laboratory geneticists and expert doctors.

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.

 

Frequently Asked Questions

  • What is the cost of Whole Exome Sequencing WES Test?

    Cost of Whole Exome Sequencing WES Test is 20000 Rs

    Whole Exome Sequencing WES Test Price in India ₹ 20000
  • What is Whole Exome Sequencing?

    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.

  • Who should undergo the Whole Exome Test?

    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 

  • How does WES work?

    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.

  • What is the test methodology?

    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. 

  • Why whole exome sequencing?

    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 

  • What is Next Generation Sequencing?

    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.

  • What is the cost of Whole Exome Sequencing

    The cost of Whole Exome Sequencing is 28000 Rs

  • How much time does it take for the reports?

    The reports takes 4-5 weeks

₹20,000.00 ₹35,000.0042% off

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