Overview
Human exome sequencing is a revolutionary genetic testing method that focuses on the protein-coding regions of the genome, known as the exome. Although the exome constitutes only about 1% of the entire genome, it harbors approximately 85% of all known disease-causing variants. The Twist Human Core Exome kit is a state-of-the-art solution that provides comprehensive coverage of more than 20,000 genes and 54 megabases of genomic sequence, with an average read depth of 100X. This high depth ensures accurate variant calling, which is essential for identifying pathogenic mutations. At DNA Labs India, we offer this advanced test at an affordable cost of INR 28,000, making it accessible for both clinical and research purposes. The test is particularly valuable for diagnosing rare genetic disorders, identifying carrier status, and uncovering the genetic basis of complex diseases. With a turnaround time of 5 weeks, our expert geneticists and molecular biologists ensure precise results and comprehensive interpretation. Whether you are a clinician seeking answers for a challenging case or a researcher exploring genetic variations, our exome sequencing service delivers reliable and actionable insights.
To be completed — reclassified from Tests on 2026-11-13.
The primary purpose of human exome sequencing is to identify genetic variants that cause or contribute to disease. It is indicated for patients with suspected genetic disorders, especially when clinical presentation is non-specific or when targeted gene panels have failed to yield a diagnosis. Exome sequencing can also be used to identify rare variants associated with complex diseases like diabetes, cardiovascular disorders, and neurodevelopmental conditions. Additionally, it aids in pharmacogenomics, helping to predict drug responses based on genetic makeup. By analyzing the exome, clinicians can achieve a molecular diagnosis, guide treatment decisions, and provide accurate genetic counseling to patients and families.
Sample requirements
What to send us
Deliverables & turnaround
What you receive
Turnaround: Results are typically available within 5 weeks from the date of sample receipt.
Pricing
Transparent pricing
| Option | Turnaround | Price (INR) | Unit |
|---|---|---|---|
| Standard | Results are typically available within 5... | ₹28,000 | per sample |
Limitations & precautions
What this service cannot do
Questions customers ask
Frequently asked questions
What is the cost of Human Exome Sequencing (Twist Human Core Exome) at DNA Labs India?
The cost is INR 28,000, which includes library preparation, sequencing, data analysis, and interpretation report.
What is the turnaround time for this test?
The turnaround time is approximately 5 weeks from the date of sample receipt.
What sample is required for this test?
The sample type is extracted DNA. If you do not have extracted DNA, a blood sample can be collected by our team.
Is fasting required before the test?
No, fasting is not required for this test.
Can I get a home sample collection?
Yes, we offer free home sample collection for online bookings across major cities in India.
What does the Twist Human Core Exome kit cover?
The kit covers more than 20,000 genes and 54 megabases of the genome, with an average read depth of 100X.
What diseases can be diagnosed with exome sequencing?
Exome sequencing can help diagnose a wide range of genetic disorders, including rare inherited conditions, neurodevelopmental disorders, and certain cancers.
Are there any limitations to exome sequencing?
Yes, exome sequencing may not detect certain types of mutations such as trinucleotide repeat expansions, deep intronic variants, or large structural rearrangements.
How are results interpreted?
Results are interpreted by clinical geneticists using ACMG guidelines, and variants are classified as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign.
Will I receive genetic counseling?
Yes, our team includes genetic counselors who can help you understand your results and implications for your health and family.
Is this test covered by insurance?
Insurance coverage varies. We recommend checking with your insurance provider. We also offer affordable self-pay options.
How do I book this test?
You can book online through our website or call our customer care number. We offer free home sample collection for online bookings.
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