The exome holds the gene sequences encoding for proteins used in various metabolic and regulatory functions. Although exome contributes to a smaller portion of the DNA sequence a single variation is enough to cause genetic disease or related symptoms. The genes within the exons are responsible for chromosomal disorders or causing the genetic abnormality.
The whole exome sequencing genetic test is a powerful diagnostic technique that sequence the exons to find out rare or uncommon variants. It screens the exons accurately to detect any variants. As the exon constitute only 2.5% of the entire genome, it is a less time-consuming process and gives quick results.
Whole exome sequencing for Targeted Sequencing
Although the exon constitutes only 2.5% of the genome, it includes 85% of disease-related possible variants. It is a faster process unlike the whole genome sequencing as only targeted sequences are screened. Without thorough genetic testing, it is not easy to conclude the root cause for certain symptoms. As it screens through the exome, it helps in identifying the presence of single nucleotide variations like the addition or deletion of nucleotides.
The clinical exome test cost in India is quite affordable with quick result production. As it screens only protein-coding genes, it helps in identifying any pre-disposition of potential genetic disease. The genomic DNA is extracted from blood samples and molecule diagnostic labs perform next-generation sequencing to screen the gene sequence.
Advantage of Taking Whole-exome test
One of the biggest advantages is as it screens through the exons, it helps in diagnosing nearly 75 to 85% of possible variants resulting in causing genetic issues. With 97 to 99% of accuracy, it provides a reliable test and hence identifies the presence of the unknown or previously undiagnosed genetic condition, if any.
- It is a comprehensive and accurate test covering the entire length of the coding region. It identifies the presence of variants like nucleotide addition or deletion.
- In comparison to whole-genome sequencing, it is not only affordable but quite precise and less time-consuming.
- The data set it produces is smaller and manageable as it runs the test only through the exome. It is easy to conduct the test by drawing blood samples.
- It helps in identifying the root cause of any symptoms or signs that is related to the genetic disorder or condition.
- As it screens through the exome, it helps in identifying the predisposition of a genetic condition. This helps with taking preventive measures before the actual of the genetic disease.
It is highly recommended for someone with symptoms or signs but not aware of the actual reason. The test must be taken by an individual with a history of a genetic disorder or symptoms or if the parents are asymptomatic carriers of a genetic variation.
The advanced test help in identifying variants along relevant regions comprising of nearly 20,000 genes with affordable whole exome sequencing test cost. This has significantly improved the overall healthcare system and has grown over the past few years as preventive care.
What is the Test Cost in India?
All the molecular diagnostic labs providing the sequencing test provide comprehensive pre and post-genetic consulting to the individuals. The whole exome sequencing test cost in India ranges from Rs 22000 to 30000 depending on the lab and location. This makes it cost-effective in comparison to the overall cost that might incur in treatment on the onset of the genetic condition. For individuals who have tested positive for genetic variants are further provided with genetic counselling for undertaking further measures and treatment.
