What is Whole Exome Sequencing Test?

Whole Exome Sequencing (WES) is a genomic medicine technique where the exome—the portions of an individual's genome that code for proteins—is sequenced. Medical Researchers can find and examine genetic variants that may be connected to a range of illnesses or conditions by concentrating on the exome.

Here is some important key facts of Whole Exome Sequencing.

Targeted Regions

WES selectively captures and sequences the exons, which are the coding regions of genes. Exons make up about 1-2% of the human genome, but mutations in these regions are responsible for a significant portion of genetic disorders.

Sequencing Technology

Next-generation sequencing (NGS) technologies are commonly used for WES. These technologies allow for high-throughput and cost-effective sequencing of DNA.

Data Analysis

After sequencing, the generated data undergoes bioinformatics analysis to identify and interpret genetic variations. This involves comparing the individual's exome sequence to a reference genome to detect single nucleotide polymorphisms (SNPs), insertions, deletions, and other types of genetic variations.

Clinical Applications

Rare Mendelian Disorders:

WES is particularly valuable in diagnosing rare Mendelian disorders, where a single gene mutation can lead to a specific phenotype.

Cancer Genomics:

WES is used to identify mutations in cancer genomes, helping to understand the genetic basis of cancer and guide personalized treatment strategies.

Complex Diseases:

Although WES primarily targets exomic regions, it can still provide insights into complex diseases with a genetic component.

What are the Advantages of WES Test?

WES is more cost-effective than whole genome sequencing (WGS) since it focuses on a smaller portion of the genome.

It has a higher depth of coverage for the targeted regions, increasing the accuracy of variant detection.

Am I a candidate for whole exome sequencing test?

Determining whether you are a candidate for Whole Exome Sequencing (WES) involves consideration of various factors, and it typically depends on the individual specific context. Here are some scenarios where WES might be considered:

  • Undiagnosed Genetic Disorders: If you have a suspected genetic disorder that has not been diagnosed through other means, WES may be recommended. It is particularly useful for identifying mutations associated with rare or Mendelian disorders.
  • Family History of Genetic Disorders: If you have a family history of a known or suspected genetic condition, WES may help identify the genetic basis of the disorder or assess the risk of passing the condition to future generations.
  • Cancer Genomics: WES is commonly used in cancer research and clinical settings to identify genetic mutations in tumors. It helps guide treatment decisions and provides insights into the underlying genetic factors contributing to the cancer.
  • Research Studies: In some research studies, WES may be used to investigate the genetic basis of a particular condition or disease. Participation in such studies could involve WES to uncover potential genetic markers.
  • Prenatal Testing: WES can be considered in certain cases of prenatal testing when there is a suspicion of a genetic disorder in the foetus.

Why should you consider CIFAR Fertility Centre for Whole Exome Sequencing (WES) test in Gurgaon?

Dr. Puneet Rana Arora, a renowned IVF treatment doctor and the director of the CIFAR Fertility Centre, carefully examines your situation. When you need a detailed work up of your diagnosis or have undergone repeated implantation failures/recurrent miscarriages or have complex and unsolved clinical condition , whole exome sequencing is the test to consider but only after detailed consult and evaluation at our IVF Centre.

It's important to note that the decision to undergo WES should be made in consultation with an experienced IVF specialist in India. They can assess your specific situation, discuss the potential benefits and limitations of WES, and help you make an informed decision.