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.

PreTest Information

Whole exome sequencing is a type of DNA sequencing that focuses on the protein-coding regions of the genome, also known as the exome. It involves sequencing all of the exons in an individual's genome, which make up about 1% of the genome and contain the instructions for making proteins. Proteins are the building blocks of the body and perform a wide variety of functions, including structural support, enzyme activity, and communication between cells. By analyzing the sequence of an individual's exome, it is possible to identify genetic variations that may be associated with certain inherited conditions or diseases.

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.

Whole exome sequencing can be used for a variety of purposes, including:

1. Medical diagnosis: Whole exome sequencing can be used to help diagnose genetic conditions or diseases in individuals who have symptoms or a family history of a particular condition, but for which a specific genetic cause has not been identified.
2. Genetic counseling: Whole exome sequencing can be used to provide information to individuals and families about their risk of developing certain genetic conditions, which can be helpful for planning for the future.
3. Drug development: Whole exome sequencing can be used to identify genetic variations that may be associated with the effectiveness or side effects of certain drugs, which can help tailor treatment to an individual's specific genetics.
4. Genetic research: Whole exome sequencing can be used to study the genetic basis of various diseases and conditions, which can help improve our understanding of these conditions and how they develop.

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.