Genotyping by Sequencing Primary Data Analysis-96 Samples Test
Short Name: GBS Primary Analysis-96
Also known as: GBS Data Analysis, Genotyping by Sequencing Analysis, SNP Genotyping Analysis
Genotyping by Sequencing Primary Data Analysis-96 Samples Test test available at DNA Labs India for ₹125,000. Uses Next-Generation Sequencing, Bioinformatics Analysis on Extracted DNA samples. Results in Reports are delivered within 4 weeks from 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 purpose of this test is to perform primary data analysis on genotyping-by-sequencing data from 96 samples. It aims to identify single nucleotide polymorphisms (SNPs) and other genetic variants that may be associated with diseases or traits. This analysis is essential for researchers and clinicians to understand genetic diversity, map disease genes, and support breeding programs.
- Test Code
- 6397
- CPT Code
- 81479
- ICD Code
- Z13.89
- Price
- ₹125,000
- Sample Type
- Extracted DNA
- Result Time
- Reports are delivered within 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing, Bioinformatics Analysis
Sample Collection
No special preparation required. Ensure sample is collected in appropriate container.
Method: Blood or saliva sample for DNA extraction
Laboratory Analysis
Blood or saliva sample will be collected by trained phlebotomist.
Report Delivery
No restrictions. Resume normal activities.
Timeline: Reports are delivered within 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to perform primary data analysis on genotyping-by-sequencing data from 96 samples. It aims to identify single nucleotide polymorphisms (SNPs) and other genetic variants that may be associated with diseases or traits. This analysis is essential for researchers and clinicians to understand genetic diversity, map disease genes, and support breeding programs.
How to Prepare
- Use EDTA tube for blood collection
- For saliva, use provided collection kit
- Label sample with patient ID and date
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genotyping by sequencing provides high-resolution genetic data essential for precision medicine. This analysis ensures robust variant detection for research and clinical applications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient DNA quantity
- DNA degraded or fragmented
- Improper labeling
Understanding Your Results
SNP
May be benign, pathogenic, or of unknown significance
Action: Correlate with phenotype and family history
Indel
Can cause frameshift or splicing alterations
Action: Assess impact on protein function
Copy Number Variation
May contribute to disease
Action: Confirm with additional methods
If you have a family history of genetic disorders, unexplained symptoms, or are considering reproductive planning, consult a genetic counselor or clinical geneticist.
Limitations
- ⚠Analysis is limited to regions captured by GBS; not whole-genome
- ⚠May miss structural variants or large indels
- ⚠Requires high-quality reference genome for accurate alignment
- ⚠Interpretation of variants requires clinical correlation
Risks & Considerations
- ●No significant physical risks
- ●Psychological impact of genetic results
- ●Privacy concerns
Interfering Factors
- ●Poor quality DNA with degradation
- ●Contamination with foreign DNA
- ●Low sequencing depth
- ●Reference genome errors
- ●PCR duplicates
Compare With Similar Tests
| Test | Genotyping by Sequencing Primary Data Analysis-96 Samples | Whole Exome Sequencing | Targeted Gene Panel |
|---|---|---|---|
| Comparison | Genotyping by Sequencing Primary Data Analysis-96 Samples | GBS focuses on specific genomic regions, while WES covers all exons. GBS is more cost-effective for large sample sets. | GBS provides broader coverage than targeted panels, which are limited to specific genes. |
Frequently Asked Questions
What is Genotyping by Sequencing (GBS)?
What does the primary data analysis include?
How many samples are covered in this test?
What is the cost of the test?
What is the turnaround time?
What sample type is required?
Is fasting required?
Can this test be used for disease diagnosis?
Is the test available across India?
What is the difference between GBS and whole genome sequencing?
Are there any risks involved?
How should I interpret the results?
Related Tests
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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