Targeted Mutation Analysis (1 Mutation) Test: Booking, Price, and Results
About Targeted Mutation Analysis (1 Mutation) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Single-site mutation testing, Known familial variant testing, and site-specific mutation testing |
| Sample Type | Peripheral blood (EDTA tube), buccal swab/saliva, chorionic villus sampling (CVS), amniotic fluid, cord blood, bone marrow, or other clinically indicated tissue |
| Fasting Required | No fasting required. If providing a saliva sample, avoid eating, drinking, or chewing gum for 30 minutes before collection. |
| Report Time | 25 days |
| Recommended For | All genders and ages; individuals with a known family history of a specific genetic mutation |
| Price | Starting at ₹7,000 |
What is a Targeted Mutation Analysis (1 Mutation) Test?
The targeted mutation analysis (1 mutation) test is a specialised genetic test that checks your DNA for one specific, previously identified mutation. It is typically ordered when a family member has already been diagnosed with an inherited genetic condition and other relatives need to know whether they carry the same variant. The test uses a method called Sanger sequencing to analyse only the region of the gene where the known mutation is located. It is also known as single-site mutation testing or known familial variant testing.
What Does a Targeted Mutation Analysis (1 Mutation) Test Measure?
This targeted mutation analysis test examines a single, well-defined location in your DNA. Rather than scanning all your genes, it focuses precisely on the variant that has already been found in your family.
The test looks for the following:
| Parameter | What it Means |
|---|---|
| Single nucleotide variant (SNV) | A change at one specific position in the DNA sequence |
| Small insertion or deletion (Indel) | A small addition or removal of genetic material within a gene |
| Presence or absence of a known familial variant | Whether the specific mutation identified in your family is present in your DNA |
Why is a Targeted Mutation Analysis (1 Mutation) Test Done?
This test is used in several clinical situations, all involving a known genetic mutation already identified in a family. Below are the most common reasons a doctor may order it.
Common Symptoms That May Require This Test
This test is not triggered by physical symptoms in the traditional sense. Instead, it is ordered based on personal or family genetic history. The most common reasons include:
- Known mutation detected in a close family member
- Carrier screening before starting a family
- Predictive or presymptomatic testing in at-risk relatives
- Confirmatory testing after a suspected genetic diagnosis
- Segregation analysis to help classify a variant of uncertain significance
- Germline testing after a mutation is found in a tumour or cancer biopsy
Conditions This Test Can Help Detect
A single-site targeted mutation analysis can confirm whether an individual carries a mutation linked to a wide range of hereditary conditions. These include:
- Hereditary breast and ovarian cancer (BRCA1/BRCA2 mutations)
- Lynch syndrome (hereditary colorectal cancer)
- Cystic fibrosis (CFTR gene mutations)
- Haemochromatosis (HFE gene mutations)
- Factor V Leiden thrombophilia (increased blood clotting tendency)
- Huntington's disease
- Thalassaemia and sickle cell disease
- Neurofibromatosis
- Familial hypercholesterolaemia (high cholesterol running in families)
How to Prepare and What to Expect
Preparation for this test is minimal, but a few steps will help ensure a smooth experience and accurate results.
Do You Need to Fast?
No, fasting is not required for this test. If you are providing a saliva sample, avoid eating, drinking, smoking, or chewing gum for 30 minutes before collection. No such restriction applies to blood samples.
Practical Tips Before Your Test
Keep the following in mind before you arrive for sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Bring documentation of the known familial mutation, such as the genetic test report of the affected family member
- Inform the lab if you have had a recent blood transfusion or bone marrow transplant, as this can affect results
- Discuss any current medications with your doctor before the test, though most medications do not interfere with genetic testing
- Genetic counselling before and after testing is recommended to help you understand what the results mean for you and your family
Step-by-Step Procedure
The targeted mutation analysis test procedure varies depending on which sample type your doctor has requested. Below is a description of each collection method.
Peripheral Blood (EDTA Tube) — Most Common
- A trained phlebotomist cleans the inside of your elbow with an antiseptic swab.
- A small needle is used to draw approximately 2 ml of blood into a lavender-top EDTA tube.
- The needle is removed, and light pressure is applied to stop any bleeding.
- The labelled sample is stored under refrigeration (2 to 8 degrees Celsius) and dispatched to the laboratory.
- DNA is extracted from the blood, and the targeted region of the gene is amplified and sequenced using Sanger sequencing.
Buccal Swab or Saliva
- You will be asked to avoid eating, drinking, or chewing gum for 30 minutes beforehand.
- A soft swab is rubbed gently on the inside of your cheek, or you will provide a saliva sample into a collection tube.
- The swab or tube is sealed, labelled, and sent to the laboratory for DNA extraction and analysis.
Chorionic Villus Sampling (CVS)
- This procedure is carried out by a specialist doctor, typically an obstetrician or maternal-foetal medicine specialist.
- A small sample of placental tissue is collected either through the abdomen (with a needle, guided by ultrasound) or through the cervix.
- The sample is transported to the genetics laboratory under appropriate conditions for DNA analysis.
Amniotic Fluid
- This is performed as an amniocentesis procedure by a specialist doctor under ultrasound guidance.
- A thin needle is inserted through the abdomen into the amniotic sac to withdraw a small volume of fluid.
- The fluid contains foetal cells, from which DNA is extracted for targeted mutation testing.
Cord Blood
- Blood is collected from the umbilical cord immediately after birth, before the placenta is delivered.
- The sample is collected into an EDTA tube, labelled, and sent for genetic analysis.
Bone Marrow Sample
- A bone marrow aspirate or biopsy is performed by a specialist under local anaesthesia, typically from the hip bone.
- The sample is collected into an appropriate container and transported to the laboratory.
- DNA is extracted, and the targeted variant is analysed using Sanger sequencing.
Factors That Can Affect Accuracy
The following factors may affect the reliability of your test result:
- Poor quality or insufficient DNA in the sample
- Recent blood transfusion or allogeneic bone marrow/stem cell transplant
- Incorrect identification of the variant to be tested (e.g., wrong gene nomenclature on the request form)
- Presence of PCR inhibitors in the sample
- Saliva sample contamination from food or drink
Understanding Your Targeted Mutation Analysis (1 Mutation) Test Results
Results from the targeted mutation analysis test are reported as detected or not detected for the specific variant requested. Your doctor or genetic counsellor will explain what the result means in the context of your personal and family history.
| Parameter | Result | Interpretation |
|---|---|---|
| Targeted mutation | Not detected (Negative) | The specific mutation was not found in your DNA |
| Targeted mutation | Detected (Positive) | The mutation is present; heterozygous or homozygous status will be reported |
| Variant of Uncertain Significance (VUS) | Detected | The significance of the variant is unclear; further evaluation or family testing may be needed |
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 with a fixed result, "maintaining healthy levels" means taking informed steps based on what your result shows:
- Discuss your result in detail with a genetic counsellor or specialist to understand your risk and options.
- Share your result with close relatives who may also be at risk and could benefit from testing.
- Keep your test report safely for future reference, as it may be relevant to your healthcare decisions and those of your family.
Lupin Diagnostics Targeted Mutation Analysis (1 Mutation) Test Price and Home Collection
The targeted mutation analysis (1 mutation) test cost at Lupin Diagnostics starts at ₹7,000, and home sample collection is available across many cities. Pricing may vary by location and the specific sample type required.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 6800 |
| CHENNAI | 6500 |
| HYDERABAD | 6500 |
| KOLKATA | 6500 |
| NAVI MUMBAI | 6800 |
| PUNE | 6500 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your targeted mutation analysis test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Targeted mutation analysis test home collection is available across cities through Lupin Diagnostics. A trained phlebotomist visits your home to collect the blood sample at a time convenient for you. All samples are processed in NABL-accredited laboratories, and your digital report is shared securely via email or WhatsApp once ready.
Frequently Asked Questions
This is a genetic test that looks for one specific, previously identified mutation in your DNA. It is typically ordered when a family member has been diagnosed with an inherited condition and close relatives need to know whether they carry the same variant. The test does not scan your entire genome; it focuses only on the known mutation site.
This test is recommended for family members of someone who has already tested positive for a known genetic mutation. It is also used for carrier screening before starting a family, predictive testing in at-risk relatives, and confirming a suspected genetic diagnosis. A genetic counsellor or specialist doctor can advise whether this test is right for you.
At Lupin Diagnostics, the report is delivered within 25 days. The test uses Sanger sequencing, a precise method that requires careful analysis, which accounts for the longer turnaround time compared to routine blood tests.
No, fasting is not required. If you are providing a saliva sample, simply avoid eating, drinking, or chewing gum for 30 minutes before collection. For blood samples, no special preparation is needed beyond bringing your clinical history and the family mutation report.
A positive result means the specific mutation was found in your DNA. Depending on the gene involved, this may indicate carrier status, an increased risk of developing the associated condition, or eligibility for further screening or preventive measures. A genetic counsellor will help you understand what the result means for your health and your family.
No. This test checks only for the one specific mutation that was requested. It does not analyse other regions of the gene or screen for other genetic conditions. If a broader evaluation is needed, your doctor may recommend a more extensive gene panel or whole-exome sequencing.
Yes, Lupin Diagnostics offers home collection for blood samples. A certified phlebotomist will visit your home at a scheduled time. For sample types such as CVS or bone marrow, collection must be performed by a specialist at a clinical facility and cannot be done at home.
Targeted Mutation Analysis (1 Mutation) Test: Booking, Price, and Results
