The genome sequencing consists of exon and intron sequences but only the exons are spliced together to form genes that encode for various proteins. Any variation or mutation in the protein-encoding genes can result in genetic disorder, phenotypic change, or inherit the condition to the offspring. Clinical exome sequencing is a targeted and powerful diagnostic technique that screens only for exome from the entire human genome.
As the high throughput sequencing technology has become available across leading genetic diagnostics labs, the cost of clinical exome sequencing cost in India has reduced. It screens across only 1 to 2% f the genes that provide instructions for making proteins. In short, it screens only for the coding portion of the genome also called the exome.
How is the clinical exome sequencing in India performed?
The clinical exome testing is performed by taking a sample of blood which is further subjected to extraction for the DNA for analysis. The sample can be also collected from a skin cell or cheek swabs. The DNA is extracted from the tissue or blood sample for further analysis. The technicians extract only the exome portion and screen it using the high throughput sequencing technique.
It is relatively a new technique but provides accuracy and correct diagnosis. The technology has been successful in detecting genetic mutations associated with birth defects as well as developmental delays in a child. It helps in even diagnosing for underlying mutations or gene variations resulting in genetic disorder symptoms.
The exome sequence is compared to the reference sequence by certified technicians to look for any variations. In case there is a variation, it is highlighted in the test report and further analyzed with help of a certified genetic counsellor.
Benefits of Conducting Clinical Exome Test
The exome testing provides unbiased analysis and screens through roughly 21,000 genes which are part of the protein-coding sequence called exon. It is a cost-effective technique that helps in detecting disease-causing genetic mutation within an exon.
- It helps with the accurate identification of genetic disorders or syndrome resulting from variation in the protein-encoding sequence of an exon.
- It helps with better reproductive counselling and family planning by identifying any existing genetic variation in any of the parent exome.
- The exome screening diagnoses phenotypic conditions resulting from mutations. It accurately detected neurological disorders, metabolic and regulatory diseases, cancer predisposition as well as rare diseases.
- The exome test is recommended for identifying the presence of mutation or variation in children born in a family with a history of genetic syndrome or disease.
What is the clinical exome sequencing test price in India?
As it does not require sequencing the whole human genome, the clinical exome test cost has significantly reduced in the past few years. The cost ranges from Rs 20,000 to 30,000 depending on the diagnostic lab, location, and speed of reproduction of the result. The labs mostly offer inclusive pre and post-genetic counselling to help individuals understand the test and its results better. Certified genetic counselling and personalized treatment are designed for individuals with positive test results.
