PIK3CA Mutation Analysis by NGS Test: Booking, Price, and Results
About PIK3CA Mutation Analysis by NGS Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | PIK3CA gene mutation test, PI3K mutation analysis test, PIK3CA sequencing test, multi-target NGS panel (small variants) test, PIK3CA somatic variant testing |
| Sample Type | FFPE tissue block (formalin-fixed paraffin-embedded tumour tissue) |
| Fasting Required | No |
| Report Time | 25 days |
| Recommended For | Adults with hormone receptor-positive, HER2-negative advanced or metastatic breast cancer; patients with colorectal, ovarian, endometrial, or other solid tumours where targeted therapy may be considered |
| Price | Starting at ₹22,500 |
What Is a PIK3CA Mutation Analysis by NGS?
The PIK3CA mutation analysis by NGS test is a molecular genetic test that detects changes (mutations) in the PIK3CA gene using next-generation sequencing (NGS) technology. The PIK3CA gene produces a protein which controls how cells grow and divide. When this gene is mutated, it can promote abnormal cell growth in certain cancers.
The test is typically ordered by an oncologist to guide treatment decisions for patients with advanced or metastatic cancers (when cells from one tumour spread to other parts of the body via the bloodstream and form new tumours), particularly in hormone receptor-positive (HR+) and HER2-negative breast cancer. It is also known as the PIK3CA gene mutation test or PIK3CA sequencing.
What Does a PIK3CA Mutation Analysis by NGS Measure?
The multi-target NGS panel (small variants) test examines the PIK3CA gene for mutations that activate the PI3K-AKT-mTOR signalling pathway. This pathway controls cell growth and survival. NGS technology reads DNA across all targeted regions of the gene simultaneously, allowing detection of both common and less frequent mutations.
The key targets of this test are listed below.
| Target | What It Looks For |
|---|---|
| Exon 9 (helical domain) | Common mutations at amino acid positions E542 and E545 (e.g., E545K) |
| Exon 20 (kinase domain) | Common mutation at position H1047 (e.g., H1047R) |
| All remaining exons | Less frequent mutations across the full gene using NGS |
| Overall mutation status | Whether a PIK3CA mutation is present (detected) or absent (wild-type) |
Approximately 80% of all PIK3CA mutations occur in exons 9 and 20, but NGS allows detection of mutations throughout all 20 exons of the gene.
Why is a PIK3CA Mutation Analysis by NGS Done?
This test is prescribed when a patient's oncologist needs to know whether a tumour carries a PIK3CA mutation, as this directly affects which treatment options are required for the treatment.
Common Symptoms That May Require This Test
The following clinical situations may prompt a doctor to order this test.
- Disease progression despite hormone (endocrine) therapy in breast cancer
- New diagnosis of advanced or metastatic HR+/HER2- breast cancer
- Assessment of eligibility for targeted PI3K inhibitor therapy
- Treatment planning for advanced solid tumours
- Resistance to standard endocrine therapy
Conditions This Test Can Help Detect
The PIK3CA gene mutation test identifies PIK3CA gene mutations for different types of cancer. The conditions below are among those where the mutation is clinically significant.
- HR+/HER2- advanced breast cancer (PIK3CA mutations are found in approximately 40% of patients).
- Endometrial cancer (mutations identified in approximately 38% of cases).
- Ovarian cancer (endometrioid and clear cell subtypes show higher mutation rates than serous subtypes).
- Colorectal, gastric, lung, hepatocellular, and brain cancers.
How to Prepare and What to Expect
No special preparation is required before submitting a sample for the PIK3CA somatic variant testing. The test uses tumour tissue that has already been collected during a biopsy or surgical procedure.
Do You Need to Fast?
No fasting is required. The sample for this test is tumour tissue, not a blood draw, so dietary restrictions do not apply.
Practical Tips Before Your Test
The following steps will help ensure the test runs smoothly.
- Bring a detailed clinical history including your symptoms, previous test results, and family history, as it is required for the test.
- Confirm with your oncologist that adequate tumour tissue is available from a prior biopsy or surgical resection.
- Ensure the tissue block or slides have been properly preserved in formalin-fixed paraffin-embedded (FFPE) format.
- Inform your doctor about all current medications and supplements.
- If a liquid biopsy is used and returns a negative result, your oncologist may recommend follow-up tissue testing to confirm.
Step-by-Step Procedure
The process for the PIK3CA mutation analysis by NGS test procedure is outlined below.
- A previously collected FFPE tumour tissue block, through a surgical biopsy or tumour resection, or prepared slides are submitted to the Lupin Diagnostics laboratory.
- Laboratory staff assess the tumour tissue to confirm it contains at least 20% tumour nuclei, which is required for reliable results.
- DNA is extracted from the tumour tissue and checked for adequate quantity and quality before sequencing begins.
- The extracted DNA undergoes targeted next-generation sequencing, which reads all specified exons of the PIK3CA gene simultaneously.
- Bioinformatic analysis processes the sequencing data to identify and classify any mutations present.
- A detailed report is prepared and delivered to your oncologist within the stipulated turnaround time.
Factors That Can Affect Accuracy
- Low tumour cell content in the tissue sample
- Poor fixation or degradation of the FFPE tissue block
- Insufficient quantity or quality of extracted DNA
- Tumour heterogeneity (mutations may vary across different parts of the same tumour)
- Laboratory platform validation and technical expertise
Understanding Your PIK3CA Mutation Analysis by NGS Results
This is a qualitative test, meaning results are reported as either "mutation detected" or "not detected", along with the specific mutation type if one is found. Results should always be reviewed with your oncologist alongside your full clinical picture.
| Result | Interpretation |
|---|---|
| Not detected (wild-type) | No targetable PIK3CA mutation identified in the tested regions |
| Mutation detected (e.g., E545K, H1047R) | An activating mutation is present; patient may be eligible for targeted therapy |
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 situations can affect how results are interpreted. Tumour heterogeneity means a mutation may be present in one part of the tumour but absent in the sample tested. A negative result does not completely rule out a mutation elsewhere in the tumour. When a liquid biopsy (blood-based) test returns a negative result, doctors often recommend confirmatory tissue testing, as blood-based methods may not detect all mutations.
Do lifestyle changes affect test results?
This is a genetic test that identifies a fixed characteristic of the tumour's DNA. Lifestyle changes do not alter the mutation status. The following general points apply.
- Focus on adhering to your cancer treatment plan and attending all follow-up appointments.
- Discuss all test results with your oncologist to understand how they affect your treatment options.
- Maintain open communication with your care team about any side effects or changes in your condition.
Lupin Diagnostics PIK3CA Mutation Analysis Test by NGS Price
The PIK3CA mutation analysis by NGS test price at Lupin Diagnostics starts at ₹22,500. This test requires a visit to a Lupin Diagnostics centre or submission of a tumour tissue sample through your treating hospital or oncologist. Home collection is not available for this test.
| City | Approximate Price ( ₹) |
|---|---|
| BHOPAL | 22500 |
| CHENNAI | 22500 |
| HYDERABAD | 22500 |
| KOLKATA | 22500 |
| NAVI MUMBAI | 22500 |
| PUNE | 22500 |
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 PIK3CA mutation analysis by NGS 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, or arrange submission of your tumour tissue block through your treating oncologist or hospital.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The PI3K mutation analysis test is a molecular genetic test that uses next-generation sequencing to detect mutations in the PIK3CA gene within tumour tissue. The gene plays a role in regulating cell growth, and mutations in it are found across several cancer types. Identifying these mutations helps oncologists decide on targeted treatment options.
This test is primarily recommended for patients with hormone receptor-positive, HER2-negative advanced or metastatic breast cancer. It may also be relevant for patients with endometrial, ovarian, colorectal, or other solid tumours where a PIK3CA mutation could influence treatment decisions.
The preferred sample is a formalin-fixed paraffin-embedded (FFPE) tumour tissue block, typically obtained from a prior biopsy or surgical procedure. In some cases, a blood-based liquid biopsy may be used, though tissue testing is preferred for accuracy.
At Lupin Diagnostics, the report is delivered within 25 days of the laboratory receiving the sample. NGS-based testing involves multiple steps, including DNA extraction, sequencing, and bioinformatic analysis, which together require this turnaround time.
No fasting or dietary preparation is required. You should bring a detailed clinical history to ensure the laboratory has the context needed to process and interpret the test correctly. Confirm with your oncologist that a suitable tumour tissue block is available.
Next-generation sequencing can detect mutations across all regions of the PIK3CA gene with higher sensitivity than older methods such as Sanger sequencing. This is important because some mutations occur at low frequencies in the tumour and may be missed by less sensitive techniques.
A detected mutation means the tumour carries a change in the PIK3CA gene that may make it eligible for targeted therapy. Your oncologist will review the specific mutation type and discuss appropriate treatment options with you based on your overall clinical profile.
PIK3CA Mutation Analysis by NGS Test: Booking, Price, and Results
