Human Exome Sequencing- SureSelect V6 Test
Short Name: Exome Sequencing V6
Also known as: Whole Exome Sequencing, WES, Exome Sequencing
Human Exome Sequencing- SureSelect V6 Test test available at DNA Labs India for ₹30,000. Uses Next-Generation Sequencing (NGS), SureSelect V6 Hybridization Capture on Extracted DNA samples. Results in Results are typically available within 5 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of Human Exome Sequencing is to identify the underlying genetic cause of a patient's symptoms when a specific genetic condition is suspected but the clinical picture is unclear. It is used to: 1) Diagnose rare and undiagnosed genetic diseases, 2) Identify mutations in cancer for targeted therapy, 3) Provide prognostic information, 4) Guide reproductive decisions through carrier testing, and 5) Facilitate family counseling. By sequencing the exome, clinicians can detect single nucleotide variants, insertions, deletions, and copy number variations that may be responsible for the patient's condition. This information is crucial for accurate diagnosis, management, and genetic counseling.
- Test Code
- 6368
- CPT Code
- 81415
- ICD Code
- Z13.79
- Price
- ₹30,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically available within 5 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), SureSelect V6 Hybridization Capture
Sample Collection
No special preparation is required. However, it is important to provide a detailed clinical history and any prior genetic test results to aid in interpretation.
Method: Blood draw or saliva collection
Laboratory Analysis
A blood sample (5-10 ml) is collected in an EDTA tube. For saliva collection, a sterile container is provided. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory under controlled conditions. Results are typically available in 5 weeks.
Timeline: Results are typically available within 5 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of Human Exome Sequencing is to identify the underlying genetic cause of a patient's symptoms when a specific genetic condition is suspected but the clinical picture is unclear. It is used to: 1) Diagnose rare and undiagnosed genetic diseases, 2) Identify mutations in cancer for targeted therapy, 3) Provide prognostic information, 4) Guide reproductive decisions through carrier testing, and 5) Facilitate family counseling. By sequencing the exome, clinicians can detect single nucleotide variants, insertions, deletions, and copy number variations that may be responsible for the patient's condition. This information is crucial for accurate diagnosis, management, and genetic counseling.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use a sterile EDTA vacutainer.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample at room temperature if delivered within 24 hours, otherwise refrigerate.
- Avoid hemolysis and clotting.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Exome sequencing is a powerful diagnostic tool for patients with suspected genetic conditions, especially when clinical presentation is non-specific. Early diagnosis can guide management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient DNA quantity (<1 µg)
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic
Clinical action: Considered causative; guide clinical management and family testing.
Likely Pathogenic
Clinical action: High likelihood of causality; may be used for clinical decision-making with caution.
Variant of Uncertain Significance (VUS)
Clinical action: Insufficient evidence; may require segregation analysis or functional studies.
Likely Benign
Clinical action: Unlikely to be causative; no immediate action.
Benign
Clinical action: No clinical significance.
If you or a family member have unexplained symptoms suggestive of a genetic condition, or if you have a family history of a genetic disorder, consult a geneticist or your primary care physician to discuss the appropriateness of exome sequencing.
Limitations
- ⚠Does not detect all types of genetic variants (e.g., large deletions, repeat expansions, mitochondrial variants)
- ⚠Variant interpretation may be uncertain (VUS)
- ⚠Not a substitute for targeted testing when a specific gene is known
- ⚠May not identify variants in non-coding regions
- ⚠Results require confirmation by Sanger sequencing for clinical action
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of discovering genetic information
- ●Potential for incidental findings unrelated to the reason for testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination with non-human DNA
- ●Incomplete exome capture due to technical issues
- ●Presence of large structural variants not detected by standard analysis
- ●Mosaic variants may be missed if allele fraction is low
Compare With Similar Tests
| Test | Human Exome Sequencing- SureSelect V6 | Whole Genome Sequencing | Targeted Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | Human Exome Sequencing- SureSelect V6 |
Frequently Asked Questions
What is Human Exome Sequencing?
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What sample is required?
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What is the SureSelect V6 method?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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