Targeted Mutation Analysis (1 Mutation) Test
Short Name: Targeted Mutation Analysis
Also known as: Single Mutation Analysis, Specific Mutation Test
Targeted Mutation Analysis (1 Mutation) Test test available at DNA Labs India for ₹9,000. Uses Sanger Sequencing on Peripheral blood/ Plasma/ Serum/ Amniotic fluid/ Cord Blood/ Chorionic villi samples. Results in 10-15 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of Targeted Mutation Analysis is to confirm the presence of a specific genetic mutation in individuals suspected of having a hereditary disorder. This test aids in accurate diagnosis, enables personalized treatment plans, supports genetic counseling for families, and can be used for carrier testing or prenatal diagnosis when indicated.
- Test Code
- 3219
- Price
- ₹9,000
- Sample Type
- Peripheral blood/ Plasma/ Serum/ Amniotic fluid/ Cord Blood/ Chorionic villi
- Result Time
- 10-15 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
Ensure a doctor's prescription is available if required. Avoid eating or drinking for a few hours before blood sample collection, unless otherwise advised.
Method: Venipuncture or as per sample type
Laboratory Analysis
A healthcare professional will collect the sample via venipuncture or other methods based on sample type. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Resume normal activities unless instructed otherwise. Store samples as directed for stability.
Timeline: 10-15 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Targeted Mutation Analysis is to confirm the presence of a specific genetic mutation in individuals suspected of having a hereditary disorder. This test aids in accurate diagnosis, enables personalized treatment plans, supports genetic counseling for families, and can be used for carrier testing or prenatal diagnosis when indicated.
How to Prepare
- Verify patient identity and prescription
- Use appropriate collection containers (e.g., EDTA Vacutainer)
- Label samples correctly with patient details
- Transport samples to the lab within specified timeframes
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early diagnosis and management of hereditary conditions, especially in prenatal and family planning contexts."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient information or prescription
Understanding Your Results
Positive (Mutation Detected)
Confirms the presence of the targeted mutation, aiding in diagnosis and management of the genetic disorder.
Negative (No Mutation Detected)
The targeted mutation is not found; further testing may be needed if symptoms persist.
Consult a doctor if you have symptoms of a genetic disorder, a family history of genetic conditions, or if you receive abnormal test results. Genetic counseling is recommended for interpretation and next steps.
Limitations
- ⚠Only detects the specific mutation targeted; does not screen for other genetic variants
- ⚠May not identify mutations in non-coding regions or complex rearrangements
- ⚠Results require clinical correlation and genetic counseling for interpretation
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Rare allergic reactions to antiseptics used during collection
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample storage or handling
- ●Recent blood transfusions affecting DNA integrity
Compare With Similar Tests
| Test | Targeted Mutation Analysis (1 Mutation) | Whole Exome Sequencing | Karyotyping | FISH Analysis |
|---|---|---|---|---|
| Comparison | Targeted Mutation Analysis (1 Mutation) |
Frequently Asked Questions
What is Targeted Mutation Analysis?
How much does the test cost?
What samples are required for the test?
How long does it take to get results?
Is home collection available?
What are the risks of the test?
How accurate is the test?
Can the test detect all genetic disorders?
Do I need a doctor's prescription?
What should I do before the test?
How is the test performed?
What do the results mean?
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.