Science has been able to identify most of the disease-causing mutations within the exons of human beings. The exome sequencing lab in India focuses on a whole exome sequencing test that can simultaneously examine more than 23,000 genes. At the same time, most genetic tests focus on just a single gene or set of predetermined genes.
The whole exome sequencing provides a holistic outlook on coding genetic variation. It has surpassed the traditional methods of genetic testing and has been able to discover more rare and novel genetic variations.
In this blog, we have tried to answer the topmost questions in everyone’s mind about whole exome sequencing. So, let’s start with the first one.
What is Whole Exome Sequencing?
There are more than 7000 identified rare diseases, out of which approximately 80% are linked to genetic causes. Therefore, it is generally difficult for doctors to diagnose these patients. This can usually result in a lengthy, expensive and emotional diagnostic journey.
With the help of WES, this doesn’t have to be the case. The Whole Exome Sequencing (WES) is an all-inclusive genetic test that helps identify any changes in the patient’s DNA that may result in ailments or medical concerns. In addition, whole exome sequencing offers you the coverage you need by focusing on the entire protein-coding regions of the genome.
If you have understood whole exome sequencing, the next logical question will be whether you should undertake the test. Let’s see.
When Is Whole Exome Sequencing Recommended?
If the doctor suspects patients have medical problems due to genetic causes, then whole exome sequencing is usually recommended.
Whole exome sequencing is recommended when patients present unfamiliar and obscure heterogeneous phenotypes suggestive of multiple conditions. You can also undertake exome sequencing if the prior genetic tests were negative or even if there was no diagnosis.
In addition, if the patient’s past medical history suggests a family history of more than one genetic disease, then your doctor may suggest to undergo WES. The test also supports discovering any neurodevelopment disorders, such as global developmental delay, muscular disorders, metabolic disorders, epilepsy, because of the high diagnostic yield.
Whole exome sequencing tests are also recommended for children with multiple congenital anomalies or developmental delay. In addition, children with suspicion of mitochondrial disease, including muscular weakness, cardiomyopathy and visual problems, should avail whole exome sequencing tests.
Furthermore, if doctors suspect any genetic anomalies in neonate babies or critically ill infants or similarly affected siblings, WES is recommended. It is a diagnostic test which screens for any mutation/changes present in coding part of the genes.
We have answered the two topmost questions. But is whole exome sequencing for all? Will it burn a hole in your pocket? The third question answers it.
Is Whole Exome Sequencing Economical?
Yes, the whole exome sequencing comes at a reasonable cost for most individuals. The price of the test varies from company to company. The Exome Sequencing Lab in India uncovers rare diseases with the help of WES quickly and at a lower overall cost. It is trying to make Whole Exome Sequencing accessible to the masses, resulting in the best patient outcomes.
The exome sequencing lab in India is renowned for providing unmatched and exceptional clinical coverage and diagnostic power in a single test. It helps diagnose the patient’s complex and unsolved cases due to genetics with the highest level of certainty.
The Whole exome sequencing test provides the right balance of insights and price. The exome sequencing lab in India also provides genetic tests to diagnose people with clinically established genes-related rare disorders.
The Exome Sequencing Lab in India offers flexible testing options and additional services based on the patients’ requirements and needs. As a result, the test is processed faster with high accuracy for critically ill patients.
