Human Genome Sequencing and Variant Calling-30X Test
Short Name: WGS 30X
Also known as: Whole Genome Sequencing 30X, WGS 30X, Genome Sequencing and Variant Calling
Human Genome Sequencing and Variant Calling-30X Test test available at DNA Labs India for ₹225,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Analysis on Extracted DNA samples. Results in Results are typically available within 8 weeks from the time the sample reaches the laboratory.. 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 Genome Sequencing and Variant Calling is to identify genetic variants that may be responsible for a patient's symptoms or disease. It is used to diagnose rare genetic disorders, identify carrier status for recessive conditions, assess cancer risk, guide targeted therapies, and provide information for pharmacogenomic decisions. By analyzing the entire genome, this test can uncover both common and rare variants, offering a comprehensive understanding of an individual's genetic health.
- Test Code
- 6344
- CPT Code
- 81425
- ICD Code
- Z13.89
- Price
- ₹225,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically available within 8 weeks from the time the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Analysis
Sample Collection
No special preparation is required. However, inform your healthcare provider about any medications or supplements you are taking.
Method: Blood or saliva
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a saliva sample may be collected. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 8 weeks from the time the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of Human Genome Sequencing and Variant Calling is to identify genetic variants that may be responsible for a patient's symptoms or disease. It is used to diagnose rare genetic disorders, identify carrier status for recessive conditions, assess cancer risk, guide targeted therapies, and provide information for pharmacogenomic decisions. By analyzing the entire genome, this test can uncover both common and rare variants, offering a comprehensive understanding of an individual's genetic health.
How to Prepare
- Ensure the sample is collected in the provided DNA collection tube.
- If using saliva, avoid eating, drinking, or smoking 30 minutes before collection.
- Label the tube with your name and date of birth.
- Store the sample at room temperature until pickup.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Whole genome sequencing provides a comprehensive view of an individual's genetic makeup, enabling precise diagnosis and personalized treatment strategies for a wide range of genetic conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient DNA quantity
- Sample not labeled correctly
- Sample exposed to extreme temperatures
Understanding Your Results
Pathogenic
Disease-causing variant
Recommendation: Confirm diagnosis, initiate targeted management, and offer family testing
Likely Pathogenic
Likely disease-causing
Recommendation: Consider additional evidence, discuss with specialist
Uncertain Significance
Insufficient evidence
Recommendation: Further testing or family studies may be needed
Benign/Likely Benign
No clinical impact
Recommendation: No action required
If you have symptoms suggestive of a genetic disorder, a family history of a known genetic condition, or if you are considering reproductive planning, consult a geneticist or your primary care physician to discuss whether whole genome sequencing is appropriate for you.
Limitations
- ⚠May not detect all types of structural variants
- ⚠Cannot detect trinucleotide repeat expansions reliably
- ⚠Variant interpretation may be limited by current medical knowledge
- ⚠Does not detect epigenetic changes
- ⚠Incidental findings may require additional counseling
Risks & Considerations
- ●Psychological impact of results
- ●Incidental findings
- ●Privacy concerns
- ●Potential for variants of uncertain significance
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | Human Genome Sequencing and Variant Calling-30X | Whole Exome Sequencing | Targeted Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | Human Genome Sequencing and Variant Calling-30X |
Frequently Asked Questions
What is the cost of Human Genome Sequencing and Variant Calling-30X?
What is the turnaround time for this test?
What sample is required for this test?
Is fasting required before the test?
Can I get a home sample collection?
What does 30X coverage mean?
What kind of variants can be detected?
Will this test diagnose all genetic disorders?
Is genetic counseling included?
Are there any risks associated with the test?
Can this test be used for pharmacogenomics?
How do I book this test?
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Reference Laboratory Services
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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