Whole Exome Sequencing (WES) is a modern genetic test that looks closely at the coding regions of our DNA, known as exons. These exons make up only about 1% of the entire genome, but they hold nearly 85% of the genetic changes that cause diseases. Because of this, WES has become a powerful and reliable tool for identifying genetic conditions and helping patients get answers.
Indications for Whole Exome Sequencing (WES):
● Genetic disorders: To diagnose inherited genetic conditions when clinical signs are unclear, or other testing methods have failed.
● Undiagnosed diseases: For patients with complex or rare diseases that do not fit conventional diagnostic patterns.
● Family planning: To identify potential genetic risks in parents or assess the likelihood of passing on hereditary conditions.
● Cancer research: To detect genetic mutations or somatic mutations related to cancer and guide treatment decisions.
How Whole Exome Sequencing Works:
● DNA extraction is performed from a blood or tissue sample.
● The exons (coding regions) of the genome are isolated, sequenced, and analyzed.
● The sequence data is compared with reference genomes to identify genetic variants that may cause diseases.
Normal Range:
● No abnormalities detected in the genetic code.
Abnormal Test Significance:
● Pathogenic mutations or variants of uncertain significance may be identified, which can help diagnose genetic conditions or guide therapeutic decisions.
Price in India:
Approx. ₹40,000 – ₹1,00,000 for whole exome sequencing.
Frequently Asked Questions
How accurate is Whole Exome Sequencing?
WES is highly accurate for identifying coding region mutations but may not detect all mutations, especially in non-coding regions.
How long does it take to get results?
Results typically take 4-6 weeks to process and analyze, depending on the complexity of the case.
Disclaimer: Whole Exome Sequencing is a powerful tool for diagnosing genetic conditions, but it’s important to follow up with genetic counseling and clinical management for a complete understanding of your results.
How HealthPil Can Help:
At HealthPil, we connect you with expert geneticists and specialists who can help interpret your WES results and guide you through the next steps in managing any genetic conditions.