At a Glance
- Sample Required: Peripheral blood (EDTA) or saliva sample
- Fasting Rules: Not required
- Turnaround Time (TAT): 4-5 weeks
- Base Cost: ₹20,000
Clinical Exome Sequencing Test Cost in India (2026)
Clinical Exome Sequencing (CES) is a powerful diagnostic tool that analyzes the protein-coding regions of the genome to identify disease-causing variants. This test is particularly valuable for individuals with suspected genetic disorders, especially when the clinical presentation is heterogeneous or atypical. In India, the cost of CES has become more accessible, making it a viable option for many patients. This guide provides a comprehensive overview of the test, its applications, and the associated costs.
What is Clinical Exome Sequencing?
Clinical Exome Sequencing is a DNA test that sequences the exome—the protein-coding regions of the genome—to identify mutations that cause genetic diseases. Unlike whole-genome sequencing, CES focuses on the ~1% of the genome that codes for proteins, along with splice junctions, making it a cost-effective and clinically relevant approach. This test covers more than 9,000 genes, including those most commonly associated with Mendelian disorders.
The test is performed using Next-Generation Sequencing (NGS) technology, which allows for rapid, high-throughput analysis of multiple genes simultaneously. NGS has revolutionized genetic diagnostics by significantly reducing the cost per base pair and improving accuracy compared to older methods like Sanger sequencing.
Why is Clinical Exome Sequencing Performed?
CES is recommended when a genetic condition is suspected but the specific gene is unknown. It is particularly useful for:
- Investigating complex health and developmental problems with a suspected genetic cause.
- Diagnosing rare genetic disorders with heterogeneous presentations.
- Identifying causative variants in patients with atypical clinical features.
- Guiding treatment and management decisions for genetic conditions.
By analyzing the exome, CES can detect a wide range of genetic abnormalities, including single nucleotide variants (SNVs) and small insertions/deletions (indels), with a detection rate exceeding 93% for clinically relevant variants.
How is the Test Performed?
The process begins with a blood or saliva sample. At DNA Labs India, we generate over 10 billion bases of raw sequence data per patient, ensuring that every protein-coding base is sampled at least 100 times. Our bioinformatics pipeline detects 95% of all DNA variants within the targeted regions. On average, 20,000 variants are identified per patient, but the majority are benign polymorphisms. Advanced filtering, based on family history, differential diagnoses, and clinical phenotype, helps isolate potentially disease-causing variants.
The entire process is conducted in our ISO 9001 certified laboratory, adhering to strict quality control measures. Results are typically available within 4-5 weeks.
What Conditions Does This Test Look For?
Clinical exome sequencing is used to investigate a broad spectrum of genetic disorders, including:
- Neurological disorders (e.g., epilepsy, intellectual disability)
- Cardiovascular conditions (e.g., cardiomyopathies)
- Metabolic disorders
- Muscular dystrophies
- Oncological syndromes (e.g., hereditary cancer predisposition)
The test is particularly valuable for identifying the molecular basis of rare diseases where conventional diagnostic approaches have failed.
Comparison: Clinical Exome vs. Whole Exome vs. Whole Genome
| Feature | Clinical Exome Sequencing (CES) | Whole Exome Sequencing (WES) | Whole Genome Sequencing (WGS) |
|---|---|---|---|
| Coverage | ~9,000 genes (clinically relevant) | ~20,000 genes (entire exome) | Entire genome (coding + non-coding) |
| Cost (India) | ₹20,000 | ₹30,000 - ₹50,000 | ₹80,000 - ₹1,50,000 |
| Turnaround Time | 4-5 weeks | 4-6 weeks | 6-8 weeks |
| Clinical Utility | High for known disease genes | High for novel gene discovery | Comprehensive, but more data to interpret |
Cost and Turnaround Time
The cost of Clinical Exome Sequencing at DNA Labs India is ₹20,000. This includes the entire testing process, from sample collection to the final report. The turnaround time is 4-5 weeks, and results are sent directly to your email.
We offer free home sample collection for all clients, ensuring convenience and safety.
How to Book an Appointment
You can book the test online or call us directly. We provide free home sample collection for all our clients.
What Do My Test Results Mean?
Once your sample is tested, a team of experts reviews any DNA variants found. They determine the clinical significance of each variant using published scientific literature and mutation databases. In some cases, incidental findings—unrelated to the original reason for testing—may be identified. To minimize these, we exclude specific genes associated with adult-onset conditions unless explicitly requested. Your doctor will discuss any unexpected results with you and provide appropriate referrals if needed.
What Happens to My Genetic Information?
Genomic sequencing generates a large amount of sensitive data. At DNA Labs India, we adhere to strict national laboratory and health privacy guidelines. You will be required to sign a consent form that outlines how your genetic information will be used, stored, and protected. Your data is never shared without your explicit consent.