The exome is the coding region that encodes for proteins and enzymes. The exons are translated into protein products and nearly 75% of the genetic disease or syndrome is caused due to mutation in the nucleotide sequence leading to gene alteration.
Clinical exome sequencing is a next-generation gene-sequencing technology used for testing all the clinically important genes. It screens for any disease-causing variants of genes within the exome. The powerful test screens for all protein-coding regions and provides a comprehensive genomic wide assessment.
The clinical exome sequencing price is affordable especially when only the exome or protein-encoding region of the genome is screened. It helps in identifying the root cause of phenotypic change or the occurrence of certain genetic diseases.
Identification of Gene Variants and Related Disease
The clinical exome test takes lesser time as compared to whole-genome sequencing and identifying variants within exome. It is cost-effective and produces data with much efficiency. As a valuable tool for mapping genetic variants within an exon, it helps with the identification of specific genetic mutations and genetic diseases.
The clinical exome sequencing test helps in identifying pre-disposition or presence of genetic conditions like Huntington’s disease, Alzheimer’s, autism, and finding somatic variants. As a next-generation sequencing technique, it is rapid and improves accuracy by 10-fold as compared to the traditional methods.
Benefits of Conducting Clinical exome sequencing in India
Exome, although comprises a smaller portion of the genome, codes for proteins that take part in the metabolic process. It gives comprehensive information on gene variation or change in the nucleotide sequence to identify genetic abnormalities.
- It is a comprehensive test that screens the entire exon sequence and hence provides complete coverage to the coding regions of the DNA. This helps in diagnosing variants or mutants that might account for nearly 75% of genetic diseases.
- It is a faster process as compared to whole-genome sequencing and provides an accuracy of the data.
- The screening test helps in identifying variants and hence detect the predisposition of genetic orders early. This helps an individual to seek genetic counselling and start preventive treatment.
- The clinical exome test cost in India is quite affordable and available readily across most of the major diagnostics labs in the country.
- As it targets specific nucleotides within the exome, it helps in quick scanning and hence reveal diseases or genetic conditions which does not show symptoms.
Over the last few years, there has been a massive change in genetic technology. Such a next-gen screening technique helps in accurate identification and reduces the overall turnaround time necessary for data generation.
Who should Take the Screening Test?
Although the test can be taken by anyone it is highly recommended for anyone suffering from or showing symptoms of genetic conditions. There is a chance of a genetic variant inherited from parents and hence anyone with a family history of genetic disorder must get the screening. The technique is not only for adults but even helps with prenatal analysis and identification of the presence of a genetic mutation in the exome of the baby.
Where to Take the Exome Test?
There are many established molecular diagnostics labs with established technology and state-of-
the-art infrastructure. The clinical exome sequencing test in Delhi and other locations across India might vary in terms of cost. In most of the labs, the cost varies from Rs 20000 to Rs 25000/- depending on the test and location. The individuals undertaking the genetic screening are provided with pre and post genetic counselling to understand the process further. In case an individual is screened positive for genetic variants or mutation, genetic consulting helps with the future course of treatment and therapy.
