Human Exome Sequencing and Analysis - SureSelect V6 Test
Short Name: Exome Sequencing
Also known as: Whole Exome Sequencing, WES, Exome Analysis
Human Exome Sequencing and Analysis - SureSelect V6 Test test available at DNA Labs India for ₹40,000. Uses Next-Generation Sequencing (NGS), SureSelect V6 Target Capture on Extracted DNA samples. Results in Reports are typically delivered within 8 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 genetic cause of a suspected inherited disorder. It is often used when other targeted tests have not yielded a diagnosis, or when the clinical presentation is broad and could be due to multiple genes. By analyzing the exome, clinicians can detect pathogenic variants that may explain symptoms such as developmental delay, intellectual disability, congenital anomalies, neurological conditions, and certain cancers. This test also helps in identifying carrier status for recessive disorders, which is valuable for family planning. Additionally, exome sequencing can reveal pharmacogenomic variants that influence drug metabolism, allowing for personalized medication choices. Ultimately, the goal is to provide a definitive molecular diagnosis, which can guide medical management, surveillance, and genetic counseling for the patient and their family.
- Test Code
- 6347
- CPT Code
- 81415
- ICD Code
- Z13.79
- Price
- ₹40,000
- Sample Type
- Extracted DNA
- Result Time
- Reports are typically delivered within 8 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), SureSelect V6 Target Capture
Sample Collection
No special preparation is required. However, please inform your doctor about any medications you are taking, as some drugs may affect DNA quality.
Method: Blood draw or saliva
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. For saliva collection, you will be asked to provide a saliva sample in a sterile container.
Report Delivery
You can resume normal activities immediately. The sample will be sent to our laboratory for analysis.
Timeline: Reports are typically delivered within 8 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 genetic cause of a suspected inherited disorder. It is often used when other targeted tests have not yielded a diagnosis, or when the clinical presentation is broad and could be due to multiple genes. By analyzing the exome, clinicians can detect pathogenic variants that may explain symptoms such as developmental delay, intellectual disability, congenital anomalies, neurological conditions, and certain cancers. This test also helps in identifying carrier status for recessive disorders, which is valuable for family planning. Additionally, exome sequencing can reveal pharmacogenomic variants that influence drug metabolism, allowing for personalized medication choices. Ultimately, the goal is to provide a definitive molecular diagnosis, which can guide medical management, surveillance, and genetic counseling for the patient and their family.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or saliva kit.
- Label the sample with your name and date of birth.
- If using saliva, avoid eating, drinking, or smoking for 30 minutes before collection.
- Store the sample at room temperature if not shipped immediately.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Exome sequencing is a powerful diagnostic tool for identifying the genetic basis of unexplained developmental delay, congenital anomalies, and suspected inherited disorders. Early diagnosis can guide management and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of DNA
- Sample received after prolonged transit time without proper storage
- Mislabeled or unlabeled sample
Understanding Your Results
Pathogenic
Clinical action: Confirms diagnosis; guide management and family testing
Likely Pathogenic
Clinical action: Likely confirms diagnosis; further testing may be recommended
Variant of Uncertain Significance (VUS)
Clinical action: Insufficient evidence; consider segregation analysis or functional studies
Likely Benign
Clinical action: Unlikely to be disease-causing; no immediate action
Benign
Clinical action: No clinical significance
If you have a family history of a genetic disorder, or if you or your child have unexplained developmental delay, congenital anomalies, or neurological symptoms, consult a geneticist or your primary care physician to discuss whether exome sequencing is appropriate.
Limitations
- ⚠Does not detect all types of genetic variants (e.g., large structural rearrangements, trinucleotide repeat expansions)
- ⚠May not identify variants in non-coding regulatory regions
- ⚠Variant interpretation may be limited by current medical knowledge
- ⚠Negative result does not rule out a genetic cause
- ⚠Incidental findings may be reported if consented
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic information
- ●Potential for incidental findings (unrelated to the reason for testing)
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination with maternal cells (in prenatal samples)
- ●Incomplete coverage of certain exonic regions
- ●Presence of pseudogenes or highly homologous regions
- ●Low variant allele fraction due to mosaicism
Compare With Similar Tests
| Test | Human Exome Sequencing and Analysis - SureSelect V6 | Targeted Gene Panel | Whole Genome Sequencing |
|---|---|---|---|
| Comparison | Human Exome Sequencing and Analysis - SureSelect V6 | Targeted panels analyze a specific set of genes related to a particular condition. They are less comprehensive but faster and cheaper. Exome sequencing covers all coding regions, increasing the chance of finding a diagnosis in heterogeneous conditions. | Whole genome sequencing analyzes the entire genome, including non-coding regions. It is more expensive and generates more data, but may detect variants outside the exome. Exome sequencing is a cost-effective alternative for most clinical indications. |
Frequently Asked Questions
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