Do you suspect that you have an undiagnosed health condition or a family history of diseases/disorders? Doctors often recommend next generation DNA sequencing(NGS) to ascertain an individual’s current health status or diseases/disorders they might develop in the future. The terms “exome,” “DNA,” and “genetic sequencing” are often used for disease prognosis and designing personalized medicines for patients based on their genetic makeup. Genetic testing has already been in existence for some time, especially for oncology, prenatal screening, and paternity confirmation. Recently, clinical exome sequencing has also been added to the list. Read on to know more about NGS, its risks & benefits, and whole exome sequencing cost in India.
Why Next Generation DNA Sequencing?
NGS is an efficient technology that determines the order of appearance of nucleotides(building blocks of DNA that decide our genetic makeup). It is a quicker and cheaper alternative to Sanger’s DNA sequencing method and offers high throughput. Therefore, scientists & doctors use next generation DNA sequencing test results to study an individual’s body composition, possibilities of any future diseases, and chances of passing it to future generations.
Since many genetic mutations (abnormal structural changes in DNA) occur at the exon-level hence, exome sequencing is used to identify the probability of possible disease-causing mutations in the body.
What Is Exome Sequencing?
Only 1-2% of our DNA is involved in the manufacturing of proteins that build cells. This portion, which directs our genes for protein synthesis, is known as an exon. All exons present in a genome are known as the exome. Any changes in the gene sequence or protein synthesis process may cause developmental delays, genetic disorders, or birth defects. So, it’s important to detect any mutations during protein synthesis to establish the cause of a disease. Though clinical exome sequencing test cost in India starts from Rs. 20,000 onwards, individuals can avoid the cost of diagnostic tests for different diseases at regular intervals by simply getting their exomes sequenced. Individuals have the option to choose from whole exome sequencing, clinical exome sequencing, and extended exome sequencing procedures.
- Whole exome sequencing tests all the protein coding exons across 22,000 genes related to diseases in our body. It is the confirmatory way of diagnosing diseases. Whole exome sequencing test cost in India is slightly more than the other tests.
- Extended exome sequencing tests exons for 19,000 genes that are associated with known hereditary disorders.
- Clinical exome sequencing tests the clinically relevant regions of 8,500 genes, including specific disease hotspots for inherited disorders. Clinical exome sequencing test cost in India varies from one lab to another, based on the area sequenced.
Exome sequencing address the causes of genetic disorders beyond the capacity of convention gene sequencing methods.
Next Generation DNA Sequencing Benefits & Risks:
There isn’t any physical risk of genetic sequencing. However, sometimes, the effects are psychological as the patients may uncover risks for other fatal diseases that weren’t previously considered. In this case, individuals taking the test may choose to opt out of knowing any secondary finding. Besides these, there are many benefits of the process. For instance, doctors get to design proactive treatment plans with lifestyle and disease management for individuals, diagnose the risks during pregnancy for expecting mothers, and suggest genetic counseling for would-be parents.
Next Generation DNA Sequencing is recommended for people who’ve had a history of underlying diseases in family. Contact a nearby DNA laboratory and find out more about the whole exome sequencing cost in India.
