Targeted Mutation Analysis (3 Mutations) Test: Booking, Price, and Results
About Targeted Mutation Analysis (3 Mutations) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Targeted Variant Analysis, Familial Variant Targeted Testing, Known Mutation Testing, Targeted Genotyping |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 25 days |
| Recommended For | All genders and ages; individuals with a known familial mutation, those seeking carrier screening, or those requiring prenatal diagnosis |
| Price | Starting at ₹16,800 |
What Is a Targeted Mutation Analysis (3 Mutations) Test?
The targeted mutation analysis (3 mutations) test is a specialised molecular genetics test that examines specific, pre-defined regions of a person's DNA to detect known disease-causing mutations. Rather than scanning the entire genome, it focuses precisely on up to three mutations that have already been identified, usually in a family member. A peripheral blood sample collected in an EDTA tube is used for this analysis. The test is also referred to as targeted variant analysis, familial variant targeted testing, known mutation testing, or targeted genotyping.
What Does a Targeted Mutation Analysis (3 Mutations) Test Measure?
This test looks for specific genetic changes within the DNA at up to three defined locations. The table below explains the key elements it can identify:
| What Is Analysed | Why It Matters |
|---|---|
| Specific known genetic variants | Confirms whether a disease-causing mutation present in a family is also present in the person being tested |
| Single nucleotide variants (SNVs) | Single-base-pair changes in DNA that may cause or contribute to a hereditary condition |
| Small insertions and deletions (INDELs) | Small additions or removals of DNA letters that can disrupt normal gene function |
| Familial pathogenic variants | Checks whether a variant identified in a proband (index case) has been passed to other family members |
Why Is a Targeted Mutation Analysis (3 Mutations) Test Done?
Doctors request targeted mutation analysis (3 mutations) for several clinical reasons, ranging from confirming a suspected inherited condition to assessing reproductive risk before or during pregnancy.
Common Symptoms That May Require This Test
The following situations often prompt a doctor to request this test:
- Family history of a confirmed genetic disorder
- Unexplained developmental delay or intellectual disability in a child
- Suspected inherited disease in an individual whose relative has a known mutation
- Pre-conception carrier screening in couples planning a pregnancy
- Confirmation of a previously identified familial variant in a new family member
- Prenatal risk assessment when a familial mutation has already been established
Conditions This Test Can Help Detect
This test is used to identify mutations linked to a range of inherited conditions, including:
- Haemoglobinopathies such as thalassaemia and sickle cell disease
- Cystic fibrosis (when specific CFTR mutations are being tested)
- Haemochromatosis, a hereditary iron overload disorder
- Inherited cancer syndromes, including BRCA1 and BRCA2 mutations associated with breast and ovarian cancer
- Metabolic disorders caused by specific enzyme deficiencies
- Neuromuscular conditions with known genetic origins
Targeted Mutation Analysis (3 Mutations) Test During Pregnancy
This test is commonly used during the preconception period and in pregnancy. When one partner is found to carry a specific genetic variant, targeted carrier screening can then be offered to the other partner. If both partners carry the same recessive mutation, further prenatal testing options may be discussed with a genetic counsellor. Known familial mutations can also be tested from prenatal samples, such as amniotic fluid, when clinically indicated.
How to Prepare and What to Expect
The targeted mutation analysis test procedure is straightforward. Understanding what to bring and what to expect can help you feel prepared.
Do You Need to Fast?
No, fasting is not required before this test. You may eat and drink normally before your appointment. Always follow specific instructions provided by your doctor.
Practical Tips Before Your Test
Prepare for your appointment by keeping the following points in mind:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Stay well hydrated before sample collection to make blood draw easier
- Inform your doctor if you have had a recent blood transfusion, as donor DNA in your blood may affect results
- Carry documentation of the previously identified familial mutation if you are being tested as a family member of an affected individual
- Speak with a genetic counsellor before testing to understand what the results may mean for you and your family
Step-by-Step Procedure
- You arrive at your nearest Lupin Diagnostics centre. The staff will verify your identity and the documentation of your clinical history.
- A small 2 ml blood sample is drawn from a vein in your arm using a sterile needle and collected into a lavender-top EDTA tube.
- The sample is labelled and stored at 2-8 °C for transport to the laboratory.
- In the laboratory, DNA is extracted from your blood sample, and the specific target regions are amplified.
- The amplified DNA is analysed using Sanger sequencing, which reads the DNA at the precise locations being tested.
- Results are interpreted, and your detailed report is prepared and delivered within 25 days.
Factors That Can Affect Accuracy
- Poor DNA quality due to improper sample storage or handling
- Recent blood transfusions, which may introduce a second person's DNA into the sample
- Mosaicism, where two or more genetically distinct cell populations exist, which may reduce detection sensitivity
- Incomplete or incorrect identification of the target mutation in the original family member (proband)
- Presence of PCR inhibitors or other technical interference during the sequencing process
Understanding Your Targeted Mutation Analysis (3 Mutations) Test Results
Your doctor or genetic counsellor will interpret the findings in the context of your full clinical picture. The table below outlines how different findings are described:
| Result | Interpretation |
|---|---|
| Not detected / Negative | No disease-causing mutation was found at the tested site(s) |
| Pathogenic variant detected | A confirmed disease-causing mutation has been identified |
| Likely pathogenic variant detected | Strong evidence points to a disease-causing mutation; further review may be needed |
| Variant of uncertain significance (VUS) | A genetic change is present, but its clinical significance is currently unclear |
| Likely benign variant detected | Strong evidence suggests the variant is not disease-causing |
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.
Results During Special Conditions
- A recent blood transfusion may introduce donor DNA into your sample, potentially giving a misleading result.
- Mosaicism, where cells in the body carry different genetic material, may reduce the sensitivity of detection at the tested sites.
- Degraded or low-quality DNA caused by improper sample storage may affect the accuracy of the sequencing output.
How to Maintain Healthy Levels
Genetic variants are inherited and cannot be changed through lifestyle. The following general steps can still be helpful:
- If you are found to be a carrier, discuss family planning options with a qualified genetic counsellor.
- Share relevant results with at-risk relatives so they can consider testing themselves.
- Attend regular follow-up appointments with your specialist to manage any associated health risks proactively.
Lupin Diagnostics Targeted Mutation Analysis (3 Mutations) Test Price
The targeted mutation analysis test cost starts at ₹16,800 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test. The table below shows indicative prices across major Indian cities:
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 16800 |
| CHENNAI | 16800 |
| HYDERABAD | 16800 |
| KOLKATA | 16800 |
| NAVI MUMBAI | 16800 |
| PUNE | 16800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps for targeted mutation analysis test online booking:
- 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
The targeted mutation analysis (3 mutations) test checks a person's DNA for up to three specific, pre-defined genetic mutations. It is used to confirm whether a disease-causing variant found in one family member is also present in another or to establish carrier status for a hereditary condition.
This test is recommended for individuals with a known family history of a genetic disorder, couples considering pregnancy who need carrier screening, relatives of someone diagnosed with a hereditary condition, and those requiring prenatal confirmation of a familial variant. A doctor or genetic counsellor can advise whether this test is appropriate for you.
At Lupin Diagnostics, the report is delivered within 25 days. The test results are delivered directly via email or WhatsApp once they are ready.
A positive result means the specific mutation being tested for has been found in your DNA. Depending on which mutation is detected, this may indicate you have a genetic condition, are a carrier of a recessive disorder, or carry an elevated risk of a hereditary disease. A specialist or genetic counsellor will help you understand what the result means for you and your family.
No. This test only examines the three specific mutation sites it is designed to detect. A negative result means those particular variants were not found, but it does not rule out other genetic variants or alternative causes of disease. Your doctor may recommend additional testing if clinical suspicion remains.
No. The targeted mutation analysis (3 mutations) test is designed to examine only specific, predefined mutation sites. It will not detect other genetic variants outside those targeted locations. A negative result at the tested sites does not rule out other genetic causes of a condition.
Genetic counselling is strongly recommended before and after the targeted mutation analysis test procedure. A genetic counsellor helps you understand why the test is being done, what different results may mean, and what options are available based on the outcome. This is especially important when results may have implications for other family members or for family planning decisions.
Targeted Mutation Analysis (3 Mutations) Test: Booking, Price, and Results
