Human Exome Sequencing- Twist Human Core Exome Test
Short Name: Human Exome Sequencing (Twist Core)
Also known as: Whole Exome Sequencing, WES, Twist Human Core Exome
Human Exome Sequencing- Twist Human Core Exome Test test available at DNA Labs India for ₹28,000. Uses Next-Generation Sequencing (NGS), Twist Human Core Exome Enrichment on Extracted DNA samples. Results in Results are typically available within 5 weeks from the date of 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 primary purpose of human exome sequencing is to identify genetic variants that cause or contribute to disease. It is indicated for patients with suspected genetic disorders, especially when clinical presentation is non-specific or when targeted gene panels have failed to yield a diagnosis. Exome sequencing can also be used to identify rare variants associated with complex diseases like diabetes, cardiovascular disorders, and neurodevelopmental conditions. Additionally, it aids in pharmacogenomics, helping to predict drug responses based on genetic makeup. By analyzing the exome, clinicians can achieve a molecular diagnosis, guide treatment decisions, and provide accurate genetic counseling to patients and families.
- Test Code
- 6370
- CPT Code
- 81415
- ICD Code
- Z01.89
- Price
- ₹28,000
- Sample Type
- Extracted DNA
- Result Time
- Results are typically available within 5 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Twist Human Core Exome Enrichment
Sample Collection
No special preparation is required. However, if you are providing a blood sample, please inform your healthcare provider about any medications you are taking, as some drugs may affect DNA quality.
Method: Blood sample or extracted DNA submission
Laboratory Analysis
A blood sample (5-10 mL) will be collected by a trained phlebotomist. Alternatively, if you have already extracted DNA, you may submit it directly to our laboratory.
Report Delivery
No specific precautions are needed after sample collection. You can resume your normal activities immediately.
Timeline: Results are typically available within 5 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of human exome sequencing is to identify genetic variants that cause or contribute to disease. It is indicated for patients with suspected genetic disorders, especially when clinical presentation is non-specific or when targeted gene panels have failed to yield a diagnosis. Exome sequencing can also be used to identify rare variants associated with complex diseases like diabetes, cardiovascular disorders, and neurodevelopmental conditions. Additionally, it aids in pharmacogenomics, helping to predict drug responses based on genetic makeup. By analyzing the exome, clinicians can achieve a molecular diagnosis, guide treatment decisions, and provide accurate genetic counseling to patients and families.
How to Prepare
- Use EDTA or citrate tube for blood collection
- Ensure sample is labeled with patient ID and date
- If submitting extracted DNA, provide at least 1 µg of high-quality DNA
- Ship samples at room temperature if arriving within 24 hours, otherwise use cold packs
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Exome sequencing is a powerful diagnostic tool for patients with suspected genetic disorders, especially when traditional testing has been inconclusive. The Twist Human Core Exome kit provides high coverage of clinically relevant genes, enabling accurate identification of pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient DNA quantity (<0.5 µg)
- DNA degraded or fragmented
- Sample not labeled correctly
Understanding Your Results
Variant is known to cause disease. Clinical correlation is recommended.
Variant is highly suspected to cause disease, but evidence is not conclusive.
Variant has insufficient evidence to determine its role. Further family studies may be needed.
Variant is probably not disease-causing.
Variant is not associated with disease.
If you have a family history of a genetic disorder, or if you or your child have unexplained symptoms that may have a genetic basis, consult a clinical geneticist or your primary care physician. They can help determine if exome sequencing is appropriate for you.
Limitations
- ⚠Does not detect trinucleotide repeat expansions
- ⚠May miss deep intronic variants or regulatory regions
- ⚠Cannot reliably detect copy number variations in all regions
- ⚠Variant interpretation may be limited by incomplete knowledge of gene-disease associations
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Possible emotional impact of receiving genetic information
- ●Risk of finding incidental findings unrelated to the original reason for testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination with non-human DNA
- ●Incomplete coverage of certain exonic regions
- ●Presence of large structural variants not detected by standard exome analysis
Compare With Similar Tests
| Test | Human Exome Sequencing- Twist Human Core Exome | Whole Genome Sequencing | Targeted Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | Human Exome Sequencing- Twist Human Core Exome |
Frequently Asked Questions
What is the cost of Human Exome Sequencing (Twist Human Core Exome) at DNA Labs India?
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What sample is required for this test?
Is fasting required before the test?
Can I get a home sample collection?
What does the Twist Human Core Exome kit cover?
What diseases can be diagnosed with exome sequencing?
Are there any limitations to exome sequencing?
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Is this test covered by insurance?
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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.
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✓ 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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