Human Exome Sequencing and Analysis- Twist Human Core Exome Test
Short Name: Human Exome Sequencing
Also known as: Whole Exome Sequencing, WES, Exome Analysis
Human Exome Sequencing and Analysis- Twist Human Core Exome Test test available at DNA Labs India for ₹39,000. Uses Next-Generation Sequencing (NGS), Twist Human Core Exome Kit on Extracted DNA samples. Results in Reports are typically available within 8 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 the genetic cause of a suspected inherited disorder. It is indicated when a patient presents with symptoms that suggest a genetic etiology, such as developmental delay, intellectual disability, multiple congenital anomalies, metabolic abnormalities, or a family history of a genetic condition. By pinpointing the specific gene mutation, this test enables accurate diagnosis, informs prognosis, guides treatment decisions, and allows for genetic counseling and family planning. It can also be used to identify carriers of recessive disorders and to guide targeted therapies in oncology.
- Test Code
- 6350
- CPT Code
- 81415
- ICD Code
- Z13.79
- Price
- ₹39,000
- Sample Type
- Extracted DNA
- Result Time
- Reports are typically available within 8 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Twist Human Core Exome Kit
Sample Collection
No special preparation is required. Inform your healthcare provider about any medications or supplements you are taking. For saliva samples, avoid eating, drinking, or smoking for at least 30 minutes before collection.
Method: Blood draw or saliva collection
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or you will be provided with a saliva collection kit. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Reports are typically available within 8 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 the genetic cause of a suspected inherited disorder. It is indicated when a patient presents with symptoms that suggest a genetic etiology, such as developmental delay, intellectual disability, multiple congenital anomalies, metabolic abnormalities, or a family history of a genetic condition. By pinpointing the specific gene mutation, this test enables accurate diagnosis, informs prognosis, guides treatment decisions, and allows for genetic counseling and family planning. It can also be used to identify carriers of recessive disorders and to guide targeted therapies in oncology.
How to Prepare
- For blood: Use EDTA tube, collect 2-5 ml of peripheral blood.
- For saliva: Use the provided kit, fill to the indicated line, and ensure no food particles.
- Label the sample with patient ID and date of collection.
- Store at room temperature if shipping within 24 hours, otherwise refrigerate.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Exome sequencing is a powerful diagnostic tool for identifying the genetic basis of unexplained developmental delays, congenital anomalies, and suspected inherited disorders. Early diagnosis can guide management and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged storage without proper temperature
Understanding Your Results
Pathogenic variant detected
The variant is disease-causing and explains the patient's condition. Genetic counseling is recommended.
Likely pathogenic variant detected
The variant is highly likely to be disease-causing, but more evidence is needed. Clinical correlation is advised.
Variant of Uncertain Significance (VUS)
The variant's effect is unknown. Additional testing or family studies may be needed.
No pathogenic variants detected
No disease-causing variants were found in the exome. This does not rule out a genetic cause; further testing may be considered.
If you have a family history of a genetic disorder, or if you or your child have unexplained symptoms such as developmental delay, seizures, or multiple birth defects, consult a geneticist or your primary care physician to discuss whether exome sequencing is appropriate.
Limitations
- ⚠Does not detect all types of genetic variants (e.g., large deletions, repeat expansions, mitochondrial variants)
- ⚠May not identify variants in non-coding regions
- ⚠Some variants may be classified as Variants of Uncertain Significance (VUS)
- ⚠Not a substitute for targeted testing when a specific gene is known
- ⚠Results may require confirmation by Sanger sequencing
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic information
- ●Potential for incidental findings unrelated to the reason for testing
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Insufficient DNA quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Technical artifacts from sequencing
Compare With Similar Tests
| Test | Human Exome Sequencing and Analysis- Twist Human Core Exome | Whole Genome Sequencing | Targeted Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | Human Exome Sequencing and Analysis- Twist Human Core Exome |
Frequently Asked Questions
What is the cost of Human Exome Sequencing at DNA Labs India?
What is the Twist Human Core Exome kit?
What kind of sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test detect all genetic disorders?
What is a Variant of Uncertain Significance (VUS)?
Will I receive genetic counseling with my results?
Is home sample collection available?
What conditions can be diagnosed with this test?
Are there any risks associated with the test?
How should I prepare for 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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