Human Exome Data Analysis-Variant Calling and Annotation Test
Short Name: Exome Variant Calling
Also known as: Exome Sequencing Analysis, Whole Exome Variant Calling, Exome Annotation
Human Exome Data Analysis-Variant Calling and Annotation Test test available at DNA Labs India for ₹15,000. Uses Next-Generation Sequencing, Bioinformatics Pipeline on Extracted DNA samples. Results in Reports are typically available within 4 weeks from the receipt of the sample.. 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 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.
- Test Code
- 6386
- CPT Code
- 81415
- ICD Code
- Z01.89
- Price
- ₹15,000
- Sample Type
- Extracted DNA
- Result Time
- Reports are typically available within 4 weeks from the receipt of the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing, Bioinformatics Pipeline
Sample Collection
No special preparation required. If providing a blood sample, no fasting is needed. Ensure the DNA sample is extracted and stored properly.
Method: Blood or saliva sample (if DNA not provided)
Laboratory Analysis
If blood is being drawn, standard phlebotomy procedures are followed. For saliva, provide a sterile container and follow instructions.
Report Delivery
No specific aftercare required. The sample will be processed in the laboratory.
Timeline: Reports are typically available within 4 weeks from the receipt of the sample.
Patient Instructions
About This Test
Who Should Get This Test
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.
How to Prepare
- Provide extracted DNA in a sterile Eppendorf tube, labeled with patient ID
- If blood sample is provided, use EDTA tube and ensure proper mixing
- Maintain sample at 2-8°C during transport
- Avoid repeated freeze-thaw cycles
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Exome analysis is pivotal in diagnosing rare genetic conditions. Our bioinformatics pipeline ensures high accuracy in variant detection and annotation, aiding clinicians in precise management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient DNA quantity (<500 ng)
- DNA degraded or fragmented
- Improper labeling or documentation
Understanding Your Results
Variant is known to cause disease. Clinical correlation is recommended.
Variant is highly suspected to cause disease. Further testing may be needed.
Variant has unknown impact. Additional family studies or functional assays may be required.
Variant is unlikely to cause disease.
Variant is not associated with disease.
If the analysis identifies a pathogenic or likely pathogenic variant, it is essential to consult with a clinical geneticist or the referring physician for further management, genetic counseling, and family screening. Additionally, if variants of uncertain significance are found, a specialist should be consulted to determine the need for additional testing.
Limitations
- ⚠Analysis is limited to exonic regions; intronic and regulatory variants may not be detected
- ⚠Cannot detect large structural variants or repeat expansions reliably
- ⚠Variant interpretation may be inconclusive for variants of unknown significance
- ⚠Requires high-quality extracted DNA; degraded samples may yield poor results
Risks & Considerations
- ●No physical risks are associated with this test as it is a bioinformatics analysis.
- ●If a blood sample is collected, there is a minimal risk of bruising or infection at the puncture site.
Interfering Factors
- ●Poor quality DNA sample
- ●Insufficient sequencing coverage
- ●Contamination with non-human DNA
- ●Errors in reference genome alignment
- ●Presence of pseudogenes or homologous regions
Compare With Similar Tests
| Test | Human Exome Data Analysis-Variant Calling and Annotation | Whole Genome Sequencing | Targeted Gene Panel | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | Human Exome Data Analysis-Variant Calling and Annotation |
Frequently Asked Questions
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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.
Your Data Privacy
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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