Targeted Mutation Analysis (More Than 2 Mutations) Test
Short Name: Targeted Mutation Analysis
Also known as: Genetic Mutation Analysis, DNA Mutation Testing, Multi-Mutation Screening
Targeted Mutation Analysis (More Than 2 Mutations) Test test available at DNA Labs India for ₹19,500. Uses Sanger Sequencing on Peripheral blood/ Plasma/ Serum/ Amniotic fluid/ Cord Blood/ Chorionic villi samples. Results in 10-15 days from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect the presence of specific genetic mutations associated with hereditary disorders, aiding in diagnosis, risk assessment, and management of genetic conditions.
- Test Code
- 3218
- Price
- ₹19,500
- Sample Type
- Peripheral blood/ Plasma/ Serum/ Amniotic fluid/ Cord Blood/ Chorionic villi
- Result Time
- 10-15 days from sample receipt
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
Consult with a healthcare provider to obtain a prescription, except for surgery, pregnancy, or travel abroad cases. Ensure proper documentation.
Method: Venipuncture or as per sample type
Laboratory Analysis
Sample collection is performed by a trained phlebotomist using sterile techniques. For amniotic fluid or chorionic villi, specialized procedures are followed.
Report Delivery
Samples are transported to the laboratory under cool conditions using cool packs to maintain stability.
Timeline: 10-15 days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To detect the presence of specific genetic mutations associated with hereditary disorders, aiding in diagnosis, risk assessment, and management of genetic conditions.
How to Prepare
- For blood samples: Use EDTA vacutainer and collect 2 ml peripheral blood.
- For amniotic fluid or chorionic villi: Collect in sterile containers as per clinical guidelines.
- Label samples correctly with patient details and test information.
- Avoid hemolysis during collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is essential for diagnosing hereditary genetic disorders, especially in prenatal or familial contexts, guiding clinical management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
- Samples without valid prescription (where applicable)
Understanding Your Results
Mutation Detected
Confirms the presence of a specific genetic mutation, which may be associated with a genetic disorder. Clinical correlation and genetic counseling are recommended.
Mutation Not Detected
The targeted mutation was not found in the sample. This does not rule out other genetic variants or disorders.
Consult a healthcare professional if results are positive, if there are clinical symptoms of a genetic disorder, or for family planning and genetic counseling.
Limitations
- ⚠Only detects known, targeted mutations; does not identify novel or uncharacterized variants
- ⚠May not detect mutations in all genes or regions
- ⚠Results require clinical correlation and genetic counseling
- ⚠Limited to specific mutations predefined in the test panel
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection with invasive sample collection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA due to improper storage
- ●Hemolyzed or lipemic samples
- ●Recent blood transfusions
Compare With Similar Tests
| Test | Targeted Mutation Analysis (More Than 2 Mutations) | Chromosomal Analysis | Gene Sequencing | Microarray Analysis |
|---|---|---|---|---|
| Comparison | Targeted Mutation Analysis (More Than 2 Mutations) |
Frequently Asked Questions
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