Overview
Human Genome Reference Based Data Analysis using Illumina technology is a comprehensive genetic test that sequences an individual's entire genome and compares it to a reference human genome to identify variations. This analysis is crucial for diagnosing genetic disorders, understanding disease predisposition, and guiding personalized treatment plans. At DNA Labs India, we utilize the Illumina platform, known for its high accuracy and throughput, to deliver reliable results. The test involves extracting DNA from a sample (blood or saliva), sequencing the entire genome, and performing bioinformatics analysis to detect single nucleotide variants (SNVs), insertions/deletions (indels), copy number variations (CNVs), and other structural variants. The cost of this test is INR 45,000, making it accessible for patients across India. Our team of genetic experts interprets the findings in the context of clinical symptoms and family history, providing actionable insights for physicians. This test is particularly valuable for individuals with undiagnosed genetic conditions, rare diseases, or a family history of inherited disorders. With a turnaround time of 4 weeks, we ensure timely reporting to facilitate clinical decision-making. DNA Labs India is NABL accredited and follows strict quality control measures to ensure accurate and reproducible results.
To be completed — reclassified from Tests on 2026-11-13.
The purpose of Human Genome Reference Based Data Analysis is to identify genetic variations that may be responsible for a patient's symptoms or disease. It is used to confirm or rule out genetic disorders, especially when targeted gene panels have been inconclusive. The test can also reveal carrier status for recessive conditions, pharmacogenomic variants affecting drug metabolism, and risk alleles for complex diseases. By comparing the patient's genome to the reference sequence, clinicians can pinpoint pathogenic mutations and guide management, including early intervention, surveillance, and family counseling.
Sample requirements
What to send us
Deliverables & turnaround
What you receive
Turnaround: Results are typically delivered within 4 weeks from the date of sample receipt. You will be notified via email or SMS when the report is ready.
Pricing
Transparent pricing
| Option | Turnaround | Price (INR) | Unit |
|---|---|---|---|
| Standard | Results are typically delivered within 4... | ₹45,000 | per sample |
Limitations & precautions
What this service cannot do
Questions customers ask
Frequently asked questions
What is Human Genome Reference Based Data Analysis?
It is a comprehensive genetic test that sequences an individual's entire genome and compares it to a reference human genome to identify variations that may cause disease.
How is this test different from whole exome sequencing?
Whole genome sequencing analyzes the entire genome, including non-coding regions, while exome sequencing only covers protein-coding regions. WGS provides more comprehensive data but is more expensive.
What sample is required for this test?
The test requires extracted DNA, which is typically obtained from a blood sample or saliva sample. Our lab accepts both.
Do I need to fast before the test?
No, fasting is not required for this test. You can eat and drink normally before sample collection.
How long does it take to get results?
The turnaround time is approximately 4 weeks from the date of sample receipt.
What is the cost of the test?
The cost is INR 45,000, which includes sequencing, data analysis, and interpretation. Free home sample collection is available for online bookings.
Can this test detect all genetic disorders?
No, it cannot detect all types of genetic variations, such as certain repeat expansions or epigenetic changes. However, it can identify many disease-causing variants.
Will I receive genetic counseling?
Our report includes interpretation by a clinical geneticist. We recommend that you discuss the results with your physician or a genetic counselor for personalized advice.
Is the test covered by insurance?
Currently, this test is not covered by most insurance schemes. However, you may check with your private insurance provider for possible reimbursement.
What is the accuracy of the test?
The test uses Illumina sequencing technology, which has high accuracy (>99.9%) for base calling. However, no test is 100% accurate, and some variants may be missed.
Can this test be done during pregnancy?
This test is not intended for prenatal diagnosis. For prenatal testing, other methods such as amniocentesis or chorionic villus sampling are used.
How do I book the test?
You can book online through our website or call our customer care. Free home sample collection is available in many cities across India.
Continue here
Related services
Enquiry
Request a quote or ask a question
Editorial accountability