NGS TP53 Mutation Analysis Test
About NGS TP53 Mutation Analysis Test
| Field | Value |
|---|---|
| Also Known As | TP53 Mutation Analysis Test, TP53 Full Gene Analysis Test, p53 Gene Sequencing Test, Tumour Protein 53 Gene Test |
| Sample Type | Peripheral blood (EDTA tube) or FFPE block (tumour tissue) |
| Fasting Required | No fasting required |
| Report Time | 30 days |
| Recommended For | Adults and children with suspected or confirmed cancers; individuals with a family history suggestive of Li-Fraumeni syndrome |
| Price | Starting at ₹14,000 |
What Is a NGS TP53 Mutation Analysis Test?
The NGS TP53 Mutation Analysis test looks for changes (mutations) in the TP53 gene, a tumour suppressor gene that plays a key role in controlling cell growth and preventing cancer.
It is ordered for patients with a confirmed or suspected cancer diagnosis, or those with a strong family history of certain cancers. The test uses a blood sample or a tumour tissue block, and is processed using next-generation sequencing (NGS), a high-resolution DNA analysis method. It is also known as the TP53 Mutation Analysis test and the TP53 Full Gene Analysis test.
What Does a NGS TP53 Mutation Analysis Test Measure?
This test analyses the TP53 gene at a detailed level. The table below explains the key components assessed.
| Component | What It Means |
|---|---|
| TP53 mutation status | Whether a harmful change (mutation) is present in the TP53 gene |
| Single nucleotide variants (SNVs) | Single-letter changes in the DNA code of the TP53 gene |
| Insertions and deletions (indels) | Small additions or removals of DNA letters within the gene |
| Copy number variants (CNVs) | Changes in how many copies of the TP53 gene are present |
| Variant allele frequency (VAF) | The proportion of cells carrying the mutation; helps gauge the size of the mutated cell population |
Results are reported as "mutation detected" or "mutation not detected." When a mutation is found, it is further classified by clinical significance: pathogenic, likely pathogenic, variant of uncertain significance, or benign.
Why Is a NGS TP53 Mutation Analysis Test Done?
A doctor may order this test for several reasons, including to guide cancer treatment or to investigate a hereditary cancer syndrome. Below are the common reasons this test is requested:
Common Symptoms That May Require This Test
The following signs or circumstances may prompt a doctor to request this test:
- Early-onset cancers diagnosed before the age of 45
- Multiple primary cancers in the same individual
- Strong family history of cancers, particularly sarcoma, breast cancer, or brain tumours
- Unexplained weight loss and persistent fatigue
- Enlarged lymph nodes that do not resolve
- Bone pain without a clear cause
- Recurrent infections alongside a confirmed blood cancer diagnosis
Conditions This Test Can Help Detect
This test is used in the investigation and management of the following conditions:
- Chronic lymphocytic leukaemia (CLL), where TP53 mutations indicate poor prognosis and may direct treatment towards alternative therapies
- Myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), where TP53 mutation is a key prognostic factor
- Central nervous system tumours, including medulloblastoma (SHH-activated subtype)
- Breast cancer, cervical cancer, melanoma, and other solid tumours where TP53 status influences prognosis
- Li-Fraumeni syndrome (LFS), a hereditary condition caused by an inherited TP53 mutation that significantly raises lifetime cancer risk
NGS TP53 Mutation Analysis Test for Chronic Disease Monitoring
TP53 status should be assessed before each line of treatment in CLL patients, not just at diagnosis. This is because TP53 mutations can become more common as the disease progresses or after chemotherapy. Repeat testing ensures that treatment decisions are based on the most current genetic profile of the cancer.
How to Prepare and What to Expect
No major preparation is needed for this test. Here is what you should know before your appointment.
Do You Need to Fast?
No, fasting is not required for the NGS TP53 Mutation Analysis test. You may eat and drink normally before your sample is collected.
Practical Tips Before Your Test
Keep the following in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, cancer diagnosis details, and family history, as this is required for the test
- Inform your doctor about all medications you are currently taking
- Tell your doctor about any known allergies
- Wear clothing with easy access to your inner arm for a blood draw
- Avoid strenuous physical activity on the day of collection
Step-by-Step Procedure
The NGS TP53 Mutation Analysis test procedure involves the following steps:
- You arrive at the Lupin Diagnostics centre and provide your clinical history and relevant medical records
- For a blood sample, a trained phlebotomist cleans the inside of your elbow and inserts a small needle into a vein to collect approximately 2 ml of blood into a lavender-top (EDTA) tube
- If tumour tissue is being tested, an FFPE (formalin-fixed paraffin-embedded) block from a previous biopsy or surgery is submitted to the laboratory
- The sample is labelled and stored at the correct temperature (2 to 8 degrees Celsius for blood samples; room temperature for FFPE tissue blocks), and dispatched to the testing laboratory
- In the laboratory, DNA is extracted from the sample and analysed using next-generation sequencing (NGS) technology across the TP53 gene
- A qualified specialist reviews and reports the findings. Your report is delivered within 30 days
Factors That Can Affect Accuracy
The following factors may influence the quality or accuracy of results:
- Low tumour cell content in the sample (at least 20% tumour cells are typically needed for reliable results)
- Poor sample preservation or delays in transporting the FFPE block
- Prior chemotherapy, which can cause cancer cells with this mutation to grow and multiply, meaning an old sample might miss the true, current level of the mutation
- Insufficient clinical history provided at the time of testing
- Degraded DNA in older tissue samples
Understanding Your NGS TP53 Mutation Analysis Test Results
Results from this test are typically reported in two ways: mutation not detected, or mutation detected (with details of the specific variant and its clinical classification). The table below gives a general guide to interpreting these outcomes.
| Result | Meaning |
|---|---|
| Mutation not detected | No pathogenic TP53 variant identified in the tested sample; the gene appears to be functioning normally in this sample |
| Pathogenic or likely pathogenic variant detected | A harmful change in the TP53 gene has been identified; may influence cancer prognosis and treatment selection |
| Variant of uncertain significance (VUS) | A change was found, but its clinical impact is not yet fully established |
| Germline mutation detected | An inherited TP53 change is present; may indicate Li-Fraumeni syndrome with implications for the patient and family members |
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
Certain clinical situations can affect how results are interpreted:
In patients with blood cancers, a blood sample may not be suitable for germline (inherited) testing, as the mutation detected could reflect the cancer itself rather than an inherited change. A separate tissue or saliva sample may be needed to confirm inheritance.
In CLL patients who have received chemotherapy, prior treatment may cause new TP53 mutations to emerge or existing mutant clones to expand. This makes re-testing before each new line of treatment clinically important.
Post-Testing Guidance and Care
While TP53 mutations cannot be prevented, the following general practices support overall health and cancer awareness:
- Attend regular cancer screening as recommended by your doctor, particularly if you have a family history of cancer
- Avoid known carcinogens such as tobacco smoke and excessive exposure to UV radiation
- Consider genetic counselling if a hereditary cancer syndrome is suspected in your family
Lupin Diagnostics NGS TP53 Mutation Analysis Test Price
The NGS TP53 Mutation Analysis test cost at Lupin Diagnostics starts at ₹14,000. This test requires a visit to a Lupin Diagnostics centre and is performed on a blood sample or tumour tissue submitted for specialised genetic analysis.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 14000 |
| CHENNAI | 14000 |
| HYDERABAD | 14000 |
| KOLKATA | 14000 |
| NAVI MUMBAI | 14000 |
| PUNE | 14000 |
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 to book your NGS TP53 Mutation Analysis test online:
- Select the test on the Lupin Diagnostics website
- Choose your city and preferred centre location
- Visit the centre at your scheduled time for blood sample collection or follow the instructions provided for submission of the tumour tissue sample
- Receive your report via email or WhatsApp within the stipulated turnaround time
Frequently Asked Questions
The TP53 gene is a tumour suppressor gene, meaning it normally helps stop cells from growing uncontrolled. It is the most frequently mutated gene in human cancers. Testing helps doctors understand the behaviour of a cancer, select the right treatment, and assess long-term outlook.
This test is recommended for patients with a confirmed or suspected cancer diagnosis, particularly those with early-onset cancers, multiple cancers, or a strong family history of certain tumour types. It is also ordered for individuals whose family history suggests Li-Fraumeni syndrome, a rare hereditary condition linked to inherited TP53 mutations.
The test uses either a peripheral blood sample collected in a lavender-top (EDTA) tube, or an FFPE block of tumour tissue from a previous biopsy. The sample type depends on whether the doctor is looking for a cancer-related (somatic) mutation or an inherited (germline) mutation.
The report for this test is delivered within 30 days. Next-generation sequencing is a detailed process that requires careful DNA extraction, sequencing, and specialist review, which is why the turnaround time is longer than routine tests.
A positive result means a harmful change in the TP53 gene has been identified. Depending on the type of mutation and your clinical situation, this may affect the choice of cancer treatment or indicate a hereditary condition. Your oncologist, hematologist, or clinical geneticist will explain what the result means for your specific case.
Yes, in certain cancers such as CLL, this test should be repeated before every new line of treatment. TP53 mutations can develop or become more widespread as the disease progresses or after chemotherapy, so the genetic profile of the cancer may change over time.
Yes, clinical history is a required part of the NGS TP53 Mutation Analysis test. The laboratory uses this information to interpret results accurately in the context of your diagnosis, prior treatments, and family history. Please bring all relevant medical records and previous test reports to your appointment.
NGS TP53 Mutation Analysis Test
