Human Genome Reference Based Data Analysis-Illumina Test
Short Name: WGS Analysis
Also known as: Whole Genome Sequencing Analysis, Illumina Genome Analysis, Reference-Based Genomic Analysis
Human Genome Reference Based Data Analysis-Illumina Test test available at DNA Labs India for ₹45,000. Uses Illumina Whole Genome Sequencing, Bioinformatics Analysis on Extracted DNA samples. Results in Results are typically delivered within 4 weeks from the date of sample receipt. You will be notified via email or SMS 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 Human Genome Reference Based Data Analysis is to identify genetic variations that may be responsible for a patient's symptoms or disease. It is used to confirm or rule out genetic disorders, especially when targeted gene panels have been inconclusive. The test can also reveal carrier status for recessive conditions, pharmacogenomic variants affecting drug metabolism, and risk alleles for complex diseases. By comparing the patient's genome to the reference sequence, clinicians can pinpoint pathogenic mutations and guide management, including early intervention, surveillance, and family counseling.
- Test Code
- 6388
- CPT Code
- 81425
- ICD Code
- Z13.89
- Price
- ₹45,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically delivered within 4 weeks from the date of sample receipt. You will be notified via email or SMS when the report is ready.
- Fasting Required
- No
- Method
- Illumina Whole Genome Sequencing, Bioinformatics Analysis
Sample Collection
No special preparation is required. Inform your physician about any medications or supplements you are taking. Avoid blood transfusion for at least 2 weeks prior to sample collection if possible.
Method: Blood or Saliva
Laboratory Analysis
A blood sample (5-10 ml) will be drawn from a vein in your arm, or a saliva sample may be collected using a sterile kit. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Results are typically delivered within 4 weeks from the date of sample receipt. You will be notified via email or SMS when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Human Genome Reference Based Data Analysis is to identify genetic variations that may be responsible for a patient's symptoms or disease. It is used to confirm or rule out genetic disorders, especially when targeted gene panels have been inconclusive. The test can also reveal carrier status for recessive conditions, pharmacogenomic variants affecting drug metabolism, and risk alleles for complex diseases. By comparing the patient's genome to the reference sequence, clinicians can pinpoint pathogenic mutations and guide management, including early intervention, surveillance, and family counseling.
How to Prepare
- For blood: Use EDTA tube, mix gently to prevent clotting.
- For saliva: Do not eat, drink, smoke, or chew gum for 30 minutes before collection.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample to the lab within 24 hours at room temperature or refrigerated.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for patients with suspected genetic disorders where targeted panels have not yielded a diagnosis. It provides a comprehensive view of the genome, enabling identification of both common and rare variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient DNA quantity (<1 µg)
- Sample not labeled correctly
- Sample received after prolonged transit (>72 hours) without proper storage
Understanding Your Results
Pathogenic
Known to cause disease; may explain the patient's phenotype.
Recommendation: Genetic counseling and family testing recommended.
Likely Pathogenic
Strong evidence for pathogenicity, but not conclusive.
Recommendation: Further segregation analysis or functional studies may be needed.
Variant of Uncertain Significance (VUS)
Insufficient evidence to determine pathogenicity.
Recommendation: Consider additional testing or family studies to clarify.
Benign/Likely Benign
No clinical significance.
Recommendation: No further action required.
If you have symptoms suggestive of a genetic disorder, or if you have a family history of a known genetic condition, consult a clinical geneticist or your primary care physician. They can assess whether genome sequencing is appropriate and guide you through the process.
Limitations
- ⚠This test does not detect all types of genetic variations, such as large structural rearrangements or epigenetic changes.
- ⚠Variants of uncertain significance (VUS) may be reported, which require further family studies.
- ⚠Not intended for prenatal diagnosis or carrier screening of common recessive diseases.
- ⚠Does not replace targeted testing for specific known familial mutations.
- ⚠Results should be interpreted by a qualified geneticist in the context of clinical findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site.
- ●Psychological impact of discovering unexpected genetic findings.
- ●Potential for variants of uncertain significance causing anxiety.
- ●Privacy concerns regarding genetic data; however, DNA Labs India follows strict confidentiality protocols.
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Mosaic variants may be missed if allele fraction is low
- ●Bioinformatics interpretation limitations for certain repeat expansions
Compare With Similar Tests
| Test | Human Genome Reference Based Data Analysis-Illumina | Whole Exome Sequencing | Targeted Gene Panel | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|---|
| Comparison | Human Genome Reference Based Data Analysis-Illumina |
Frequently Asked Questions
What is Human Genome Reference Based Data Analysis?
How is this test different from whole exome sequencing?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get results?
What is the cost of the test?
Can this test detect all genetic disorders?
Will I receive genetic counseling?
Is the test covered by insurance?
What is the accuracy of the test?
Can this test be done during pregnancy?
How do I book the 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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