Overview
Human Exome Sequencing and Analysis is a comprehensive genetic test that examines the protein-coding regions of the genome, known as the exome. Although the exome constitutes only about 1-2% of the entire genome, it harbors approximately 85% of known disease-causing mutations. The Twist Human Core Exome kit used at DNA Labs India provides high-depth coverage of over 20,000 genes, enabling the detection of variants associated with a wide range of genetic disorders. This test is particularly valuable for patients with complex or undiagnosed conditions, as it can identify the molecular basis of diseases such as rare inherited syndromes, neurodevelopmental disorders, metabolic conditions, and certain cancers. The process involves extracting DNA from a blood or saliva sample, preparing a sequencing library, performing high-throughput sequencing, and analyzing the data using advanced bioinformatics tools. The results are interpreted by clinical geneticists and reported in a clinically actionable format. At DNA Labs India, the test is offered at a cost of INR 39,000, which includes all steps from sample collection to a detailed report. Free home sample collection is available across major cities in India, making this advanced diagnostic tool accessible to patients nationwide.
To be completed — reclassified from Tests on 2026-11-13.
The primary purpose of human exome sequencing is to identify the genetic cause of a suspected inherited disorder. It is indicated when a patient presents with symptoms that suggest a genetic etiology, such as developmental delay, intellectual disability, multiple congenital anomalies, metabolic abnormalities, or a family history of a genetic condition. By pinpointing the specific gene mutation, this test enables accurate diagnosis, informs prognosis, guides treatment decisions, and allows for genetic counseling and family planning. It can also be used to identify carriers of recessive disorders and to guide targeted therapies in oncology.
Sample requirements
What to send us
Deliverables & turnaround
What you receive
Turnaround: Reports are typically available within 8 weeks from the date of sample receipt.
Pricing
Transparent pricing
| Option | Turnaround | Price (INR) | Unit |
|---|---|---|---|
| Standard | Reports are typically available within 8... | ₹39,000 | per sample |
Limitations & precautions
What this service cannot do
Questions customers ask
Frequently asked questions
What is the cost of Human Exome Sequencing at DNA Labs India?
The cost is INR 39,000, which includes all steps from sample collection to a detailed report. Free home sample collection is available for online bookings.
What is the Twist Human Core Exome kit?
It is a high-quality exome sequencing kit that covers more than 20,000 genes, providing comprehensive analysis of protein-coding regions.
What kind of sample is required for this test?
The test requires extracted DNA, which is typically obtained from a blood sample or saliva sample. The sample type is specified as 'Extracted DNA'.
How long does it take to get the results?
The turnaround time is approximately 8 weeks from the date of sample receipt.
Is fasting required before the test?
No, fasting is not required for this test.
Can this test detect all genetic disorders?
No, exome sequencing cannot detect all types of genetic variants, such as large structural variants, repeat expansions, or mitochondrial mutations. It focuses on protein-coding regions.
What is a Variant of Uncertain Significance (VUS)?
A VUS is a genetic variant whose impact on health is not yet known. It may require further testing or family studies to determine its significance.
Will I receive genetic counseling with my results?
DNA Labs India provides a detailed report, and it is recommended that you discuss the results with a genetic counselor or physician for proper interpretation.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What conditions can be diagnosed with this test?
This test can help diagnose a wide range of genetic conditions, including neurodevelopmental disorders, metabolic disorders, cancer predisposition syndromes, and many others.
Are there any risks associated with the test?
The physical risks are minimal (e.g., bruising at the blood draw site). However, there may be psychological implications from learning genetic information.
How should I prepare for the test?
No special preparation is needed. For saliva samples, avoid eating, drinking, or smoking for 30 minutes before collection.
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