Targeted Mutation Analysis (2 Mutations) Test
About Targeted Mutation Analysis (2 Mutations) Test
| Field | Value |
|---|---|
| Also Known As | Familial Variant Testing, Known Mutation Testing, Targeted Variant Analysis, Cascade Genetic Testing, Site-Specific Mutation Analysis |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 25 days |
| Recommended For | All genders and ages; individuals with a known familial genetic variant requiring confirmatory or predictive testing |
| Price | Starting at ₹12,000 |
What Is a Targeted Mutation Analysis (2 Mutations) Test?
The targeted mutation analysis (2 mutations) test is a specialised molecular genetics test that looks for up to two specific, pre-identified disease-causing variants in a person's DNA. It is typically ordered when a genetic mutation has already been found in a family member and close relatives need to be checked. A small blood sample collected in an EDTA tube is used for analysis. The test is also known as familial variant testing, known mutation testing, targeted variant analysis, cascade genetic testing, or site-specific mutation analysis.
What Does a Targeted Mutation Analysis (2 Mutations) Test Measure?
Rather than scanning the entire genome, this test focuses on specific locations in the DNA where familial disease-causing variants are known to exist. The table below summarises what the test looks for:
| Component | What It Tells You |
|---|---|
| Specific known genetic variants | Whether the individual carries the same disease-causing mutation previously identified in a family member |
| DNA sequence at targeted locations | The exact sequence of the genomic regions where familial variants were previously found |
| Presence or absence of familial variant | A clear confirmed or not confirmed result for each of the two mutations being tested |
Why Is a Targeted Mutation Analysis (2 Mutations) Test Done?
This test is ordered in specific clinical situations where a genetic variant has already been identified in a family and other members need to be assessed. Below are the common reasons a doctor may recommend it.
Common Symptoms That May Require This Test
Doctors may recommend this test when a person presents with or is at risk for the following:
- A known family history of an inherited genetic disorder
- Unexplained anaemia or blood disorder with a familial pattern
- Progressive muscle weakness or neurological symptoms in a family with a known mutation
- Recurrent pregnancy loss where a familial variant may be implicated
- Desire to understand carrier status before family planning
- Pre-symptomatic testing for a late-onset inherited condition (such as Huntington's disease)
- Confirmation of carrier status following a broader genetic screen
Conditions This Test Can Help Detect
This test is used when one of the following conditions is already known to run in the family:
- Sickle cell anaemia
- Beta-thalassaemia
- Cystic fibrosis
- Spinal muscular atrophy
- Hereditary cancer syndromes (e.g., BRCA1 or BRCA2 mutations, Lynch syndrome)
- Huntington's disease, myotonic dystrophy, or muscular dystrophy
- Haemochromatosis (iron overload disorder)
- Familial Mediterranean fever
- Connexin 26-related hearing loss
- Tay-Sachs disease
How to Prepare and What to Expect
The targeted mutation analysis test procedure is straightforward. However, careful preparation and providing the right documentation are essential for an accurate result.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally before your appointment. Always follow specific instructions provided by your doctor.
Practical Tips Before Your Test
Keep the following points in mind to ensure your test proceeds without delay:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Bring the genetic test report of the affected family member (the proband); this is essential to confirm which specific variants will be tested for
- Genetic counselling before the test is strongly recommended to understand what results may mean for you and your family
- Inform the phlebotomist if you have received a blood transfusion or bone marrow transplant recently, as this can affect results
- Wear clothing with easy access to your arm for the blood draw
Step-by-Step Procedure
- You will present your clinical history and the proband's genetic report at the collection centre for verification.
- A trained phlebotomist cleans a small area on your arm and draws 2 ml of blood into an EDTA (lavender-top) tube.
- The sample is labelled with your patient identifiers and logged into the system.
- The sample is stored under refrigeration (2 to 8°C) and dispatched to the molecular genetics laboratory.
- In the laboratory, DNA is extracted from your blood sample, and the specific genomic regions containing the known familial variants are amplified and sequenced using Sanger sequencing.
- The sequencing results are reviewed and reported by a specialist, and your report is delivered within 25 days.
Factors That Can Affect Accuracy
Several factors may influence the reliability of your test result:
- Poor DNA quality or insufficient DNA quantity in the sample
- Incorrect or incomplete identification of the familial variant from the proband's report
- Presence of PCR inhibitors, which are substances that can interfere with the DNA amplification process
- Recent blood transfusion or bone marrow transplant, which may introduce donor DNA into the sample
- Improper sample handling or storage before reaching the laboratory
- Rare biological phenomena such as mosaicism, where only some cells carry the variant
Understanding Your Targeted Mutation Analysis (2 Mutations) Test Results
Results from this test are interpreted in the context of the specific familial variant being tested. Always discuss your findings with a qualified doctor or genetic counsellor. The table below provides a general guide to interpreting each outcome:
| Result | Interpretation | Notes |
|---|---|---|
| Variant Detected (Positive) | The specific familial mutation is present in your DNA | May indicate carrier status or affected status depending on the inheritance pattern of the condition |
| Variant Not Detected (Negative) | The specific familial mutation was not found in your DNA | Does not rule out other mutations in the same or different genes |
| Variant of Uncertain Significance (VUS) | The clinical meaning of the variant found is not yet clear | May require additional testing or studies within the family |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
Because this is a genetic test, results do not change over time. However, you can act on your results in a positive way:
- Follow the screening and preventive care plan recommended by your genetic counsellor or specialist
- Share your results with other at-risk family members so they can consider cascade testing
- Maintain regular follow-up appointments with a specialist if a pathogenic variant is found, as early monitoring supports better health management
Lupin Diagnostics Targeted Mutation Analysis (2 Mutations) Test Price
The targeted mutation analysis test cost at Lupin Diagnostics starts at ₹12,000. This test requires a visit to a Lupin Diagnostics centre, as home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 12000 |
| CHENNAI | 12000 |
| HYDERABAD | 12000 |
| KOLKATA | 12000 |
| NAVI MUMBAI | 12000 |
| PUNE | 12000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This test is a specialised molecular genetics test that looks for up to two specific, known disease-causing mutations in a patient's DNA. Unlike broader genetic screens, it focuses only on variants already identified in a family member. It is used for diagnostic confirmation, carrier testing, and predictive testing in at-risk relatives.
This test is recommended for individuals who have a close family member with a confirmed genetic condition caused by a known mutation. It is also used for pre-symptomatic testing, carrier screening, prenatal diagnosis when a familial variant is known, and to understand how a mutation is being inherited within a family.
You must bring a detailed clinical history and the genetic test report of the affected family member (the proband). This report confirms the exact variants to be tested for. Without this documentation, the laboratory cannot proceed with the analysis. A detailed clinical history is also required.
At Lupin Diagnostics, the report is delivered within 25 days from the date of sample collection. The test results will be delivered directly via email or WhatsApp once they are ready.
Genetic counselling is strongly recommended both before and after testing. A genetic counsellor can help you understand what the test can and cannot tell you and will explain the implications of a positive or negative result for you and your family members.
A negative result means the specific familial variants tested for were not found in your DNA. However, it does not rule out other mutations in the same gene or elsewhere in the genome that were not part of this test. Your doctor or genetic counsellor will advise whether any further testing is needed.
A positive result means the familial variant was detected in your DNA. Your doctor or genetic counsellor will discuss next steps, which may include enhanced health monitoring, preventive measures, or informing other at-risk family members so they can consider testing. Early identification allows timely and informed decisions about your health care.
Targeted Mutation Analysis (2 Mutations) Test
