Genotyping by Sequencing and Primary Analysis-96 Samples Test
Short Name: GBS 96 Samples
Also known as: GBS, Genotyping by Sequencing, GBS Primary Analysis
Genotyping by Sequencing and Primary Analysis-96 Samples Test test available at DNA Labs India for ₹450,000. Uses Next-Generation Sequencing (NGS), Genotyping by Sequencing (GBS) on Extracted DNA samples. Results in Results are typically available within 8 weeks after sample receipt. You will be notified when the report is ready.. 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 purpose of Genotyping by Sequencing is to identify genetic variations (SNPs, indels) across the genome of an organism. This information is crucial for understanding genetic diversity, mapping traits, diagnosing genetic disorders, and studying evolutionary relationships. In clinical settings, GBS can help identify mutations associated with inherited diseases, enabling targeted treatment and genetic counseling. In agricultural research, it accelerates breeding programs by enabling marker-assisted selection. The primary analysis included in this service ensures that raw sequencing data is processed to produce reliable variant calls, ready for downstream interpretation.
- Test Code
- 6353
- CPT Code
- 81479
- ICD Code
- Z01.89
- Price
- ₹450,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically available within 8 weeks after sample receipt. You will be notified when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Genotyping by Sequencing (GBS)
Sample Collection
No special preparation required. If providing blood sample, no fasting needed. Ensure to inform about any medications or supplements.
Method: Blood or saliva sample for DNA extraction (if not provided)
Laboratory Analysis
Blood sample collection by trained phlebotomist. For saliva, provide sample in sterile container.
Report Delivery
No restrictions. Resume normal activities.
Timeline: Results are typically available within 8 weeks after sample receipt. You will be notified when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Genotyping by Sequencing is to identify genetic variations (SNPs, indels) across the genome of an organism. This information is crucial for understanding genetic diversity, mapping traits, diagnosing genetic disorders, and studying evolutionary relationships. In clinical settings, GBS can help identify mutations associated with inherited diseases, enabling targeted treatment and genetic counseling. In agricultural research, it accelerates breeding programs by enabling marker-assisted selection. The primary analysis included in this service ensures that raw sequencing data is processed to produce reliable variant calls, ready for downstream interpretation.
How to Prepare
- If providing blood: collect in EDTA tube (purple top)
- If providing saliva: use Oragene DNA kit
- Label sample with patient ID and date
- Store at room temperature if shipping within 24 hours, otherwise refrigerate
- Ship on ice pack for long transit
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genotyping by sequencing provides a high-resolution view of genetic variation, enabling precise identification of mutations associated with inherited disorders and complex traits. This service is essential for research and clinical applications requiring comprehensive genomic data."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient DNA quantity (<500 ng)
- DNA degraded (high molecular weight smear on gel)
- Sample not labeled correctly
- Sample received in improper container
Understanding Your Results
SNP
Action: Check allele frequency in population databases (e.g., gnomAD)
Indel
Action: Assess impact on protein function using prediction tools
Homozygous vs Heterozygous
Action: Correlate with phenotype and family history
If you are undergoing this test for clinical diagnosis, consult a genetic counselor or physician to understand the implications of your results. For research purposes, consult with your project supervisor.
Limitations
- ⚠GBS provides reduced representation, not whole-genome sequencing
- ⚠May miss variants in regions not covered by restriction sites
- ⚠Requires a reference genome for alignment
- ⚠Low-frequency variants may be missed at low sequencing depth
- ⚠Bioinformatics analysis requires expertise
Risks & Considerations
- ●No significant risks associated with blood draw (minor bruising possible)
- ●No radiation exposure
- ●Genetic information may have psychological impact
Interfering Factors
- ●Low DNA quality or quantity
- ●Contamination with RNA or proteins
- ●Degraded DNA due to improper storage
- ●Incomplete digestion by restriction enzymes (if used)
- ●Reference genome quality and completeness
- ●Sequencing errors or biases
Compare With Similar Tests
| Test | Genotyping by Sequencing and Primary Analysis-96 Samples | |||
|---|---|---|---|---|
| Comparison | Genotyping by Sequencing and Primary Analysis-96 Samples |
Frequently Asked Questions
What is Genotyping by Sequencing (GBS)?
What does the primary analysis include?
What is the cost for 96 samples?
What sample type is required?
How long does it take to get results?
Is home sample collection available?
Can GBS be used for clinical diagnosis?
What is the minimum DNA quantity required?
Do you provide bioinformatics support?
Can I use this service for plant or animal samples?
What is the difference between GBS and whole genome sequencing?
How do I book this test?
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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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