Overview
Human exome data analysis is a specialized bioinformatics service that focuses on the protein-coding regions of the genome, known as the exome. This analysis is crucial for identifying genetic variants that may contribute to various diseases. Variant calling involves comparing an individual's sequencing data to a reference genome to detect differences, while annotation adds functional information to these variants, such as their association with known disorders or their impact on protein function. At DNA Labs India, we offer a cost-effective solution for researchers and clinicians requiring exome data analysis. Our service includes comprehensive variant calling and annotation, ensuring high accuracy and reliability. With a turnaround time of 4 weeks, our team of experts utilizes state-of-the-art bioinformatics tools to deliver actionable insights. Whether you are investigating a rare genetic condition or conducting research, our service is designed to meet your needs at an affordable price of INR 15000. The analysis is performed on high-quality extracted DNA, and the report includes detailed variant interpretation following ACMG guidelines. We also provide free home sample collection for added convenience, making this advanced genetic analysis accessible to patients across India.
To be completed — reclassified from Tests on 2026-11-13.
The primary purpose of this test is to analyze exome sequencing data to identify clinically relevant genetic variants. This analysis aids in diagnosing genetic disorders, understanding disease mechanisms, and guiding treatment decisions. It is particularly useful for patients with unexplained developmental delays, intellectual disabilities, congenital anomalies, or a family history of genetic conditions. By providing detailed variant annotation, the test helps clinicians interpret the significance of identified variants and correlate them with patient symptoms.
Sample requirements
What to send us
Deliverables & turnaround
What you receive
Turnaround: Reports are typically available within 4 weeks from the receipt of the sample.
Pricing
Transparent pricing
| Option | Turnaround | Price (INR) | Unit |
|---|---|---|---|
| Standard | Reports are typically available within 4... | ₹15,000 | per sample |
Limitations & precautions
What this service cannot do
Questions customers ask
Frequently asked questions
What is human exome data analysis?
Human exome data analysis is the process of analyzing the protein-coding regions of the genome (exome) to identify genetic variants that may be associated with diseases.
What is variant calling?
Variant calling is the process of identifying differences between an individual's genome and a reference genome, such as single nucleotide changes or insertions/deletions.
What is variant annotation?
Variant annotation involves adding functional information to identified variants, such as their location in a gene, predicted impact on protein function, and known disease associations.
What is the cost of this test?
The cost is INR 15000, which is a discounted price for online bookings.
What sample is required?
The sample type is extracted DNA. If you do not have extracted DNA, a blood or saliva sample can be collected for DNA extraction.
How long does it take to get results?
The turnaround time is 4 weeks from the receipt of the sample.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings in many cities across India.
What conditions can this test help diagnose?
This test can help diagnose genetic disorders associated with developmental delays, intellectual disability, birth defects, and other inherited conditions.
Will I receive a report?
Yes, you will receive a detailed report with variant calling and annotation results, including interpretation.
Is this test covered by insurance?
Insurance coverage is not guaranteed and depends on your policy. We recommend checking with your insurance provider.
Can this test be done for research purposes?
Yes, this service can be used for research applications, but it is primarily intended for clinical diagnostic use.
What is the quality of the analysis?
We use state-of-the-art bioinformatics tools and follow ACMG guidelines for variant interpretation to ensure high accuracy.
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