What is Exome and its Importance?
The exome is the protein-encoding portion of the whole genome which consists of the exon. The exon constitutes only 1% of the whole genome but is responsible for nearly 75% of the genetic disorder resulting from the alternation in the protein-encoding region. Even a single mutation or change is enough to bring a huge change.
The entire genome mapping and sequencing are costly and require a lot of time to produce the result. However, the whole exome sequencing genetic cost in India has become cost-effective as it requires only targeted testing of the part that constitutes 85% of disease-causing genetic variants in the exome.
Benefits of the Whole-exome sequencing test
The comprehensive test examines the genetic information which is roughly for 21,000 genes and detects any change or alteration that can result in hereditary disease. The whole exome test helps in identifying various mutations within the exons that result in causing genetic disease or even cancer.
- The genetic test helps in identifying the root cause of any signs and symptoms in the childlike developmental delays, intellectual disability, metabolic syndromes, and other genetic conditions.
- It is recommended for people with unspecified genetic disorders despite multiple differential diagnoses.
- It helps with the detection of genetically heterogeneous disorders.
- The genetic test screens for mutations in the exon that could result in birth defects in the child.
The whole exome sequencing test cost in India has become affordable with the introduction of high-end sequencing technology. Many established genetic diagnostic labs help with the screening test.
Importance of Genetic Counselling for the Test
Doctors often recommended the test for an individual with certain signs and symptoms that is associated with genetic disease. It is even used for detecting inherited mutations or faults in the exome sequence resulting in delayed development in children. However, it is an emotional roller-coaster and comes with a lot of baggage.
The pre-test genetic counselling is mostly included within the whole exome test cost by most of the established diagnostic labs. This helps in providing the right guidance and information to the individual and family, preparing for the test. With the right knowledge, the individuals are prepared for the consequence of the test results.
In case the test results come out to be positive, the whole exome sequencing test in India is supplemented with post genetic counselling. The certified counsellor help with providing the right guidance. Some further diagnoses and tests might be necessary for confirmation and creating a personalized treatment.
Where can the Test be Conducted?
The whole exome sequencing test cost in India is different depending on the location, technology used, and the number of genes to be screened. The test cost starts from Rs 20000/- and it helps with the analysis of the targeted sequence. It is available across all the established genetic diagnostic labs along with both pre and post genetic counselling.
