POLE Gene Mutation Analysis Test: Booking, Price, and Results
About POLE Gene Mutation Analysis Test
| Field | Value |
|---|---|
| Also Known As | POLE mutation test, DNA polymerase epsilon mutation analysis, POLE exonuclease domain sequencing, POLE EDM test |
| Sample Type | Peripheral blood (EDTA tube), bone marrow sample, fresh or frozen tissue, formalin-fixed paraffin-embedded (FFPE) tissue block or slides, or other clinically indicated tumour tissue samples |
| Fasting Required | No |
| Report Time | 25 days |
| Recommended For | Adults of all genders diagnosed with or suspected of endometrial, colorectal, or other solid tumours; individuals with a family history of hereditary cancer syndromes |
| Price | Starting at ₹9,600 |
What is a POLE Gene Mutation Analysis Test?
The POLE gene mutation analysis test examines tumour tissue for changes in the POLE gene, which provides instructions for an enzyme called DNA polymerase epsilon. This enzyme plays a key role in copying and repairing DNA during cell division. The test is typically requested by oncologists to classify a tumour at the molecular level, guide treatment decisions, and assess prognosis. It is also known as the POLE mutation test or DNA polymerase epsilon mutation analysis.
What Does a POLE Gene Mutation Analysis Test Measure?
This test analyses specific regions of the POLE gene in tumour tissue to detect mutations that affect the enzyme's proofreading function. The following are the main elements assessed.
| Component | What it Tells Us |
|---|---|
| Pathogenic POLE mutations (e.g., P286R, V411L, S297F, A456P, S459F) | Identifies known cancer-associated mutations in the exonuclease (error-correcting) domain |
| Exonuclease domain hotspots (exons 9 and 13) | Over 80% of pathogenic variants occur here; five hotspot mutations account for most known cases |
| Point mutations and small insertions or deletions | Detects single-nucleotide changes and small sequence alterations in the POLE gene |
| Variant of uncertain significance (VUS) | Flag changes whose clinical impact requires further specialist interpretation |
Why is a POLE Gene Mutation Analysis Test Done?
Doctors order the POLE gene mutation analysis test when a tumour needs molecular classification or when specific symptoms point to cancers known to carry POLE mutations.
Common Symptoms That May Require This Test
The following symptoms may prompt an oncologist to request this test as part of a broader diagnostic workup.
- Abnormal vaginal bleeding
- Pelvic pain
- Unexplained weight loss
- Changes in bowel habits
- Rectal bleeding
- Abdominal discomfort
- Persistent fatigue
Conditions This Test Can Help Detect
This test helps identify or classify several tumour types. Conditions it can help detect include:
- Endometrial carcinoma (womb cancer): POLE mutations are found in approximately 5 to 16% of endometrial tumours and are linked to an ultramutated tumour profile
- Colorectal carcinoma (bowel cancer): POLE mutations are present in around 1 to 2% of colorectal cancers
- Ovarian cancer, lung cancer, and diffuse glioma (a type of brain tumour)
- Polymerase proofreading-associated polyposis (PPAP): an inherited cancer syndrome caused by germline POLE mutations that raises the risk of colorectal cancer and adenomas
How to Prepare and What to Expect
The POLE gene mutation analysis test procedure differs from a standard blood test. It requires tumour tissue collected during a prior biopsy or surgical procedure.
Do You Need to Fast?
No fasting is required for this test. The sample used is tumour tissue, not blood, so dietary preparation is not necessary.
Practical Tips Before Your Test
- This test requires tumour tissue; a prior biopsy or surgical specimen must already be available
- Speak with your oncologist about whether archived tissue from a previous procedure can be used
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Bring any earlier pathology reports to your appointment
- If a hereditary mutation is suspected, ask your doctor about genetic counselling before or after testing
Step-by-Step Procedure
This test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood samples. Bone marrow and tumour tissue samples are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing.
Peripheral Blood Collection
- A trained phlebotomist cleans a vein, usually in the arm, with an antiseptic swab.
- A small amount of blood is drawn into an EDTA tube (lavender-top tube).
- The sample is labelled with the patient’s details and date of collection.
- It is stored under recommended conditions and transported to the laboratory.
- DNA is extracted and analysed using next-generation sequencing (NGS) technology.
- Results are typically available within 35 days.
Bone Marrow Collection
- This sample is collected by a trained doctor in a clinical setting.
- The skin over the collection site, usually the hip bone, is cleaned with an antiseptic solution.
- Local anaesthesia is given to numb the area before sample collection.
- A small amount of bone marrow is collected using a sterile needle.
- The sample is transferred into appropriate collection tubes and labelled.
- It is transported to the laboratory for DNA extraction and analysis.
Tumour Tissue/FFPE Block Collection
- This sample is collected during a biopsy or surgical procedure by a specialist doctor, or previously preserved tumour tissue (FFPE block/slides) may be used for testing.
- A small tissue sample is removed from the tumour under sterile conditions or retrieved from the pathology archive.
- The sample is placed in a specialised sterile container or submitted as FFPE blocks/slides.
- The sample is labelled and transported to the laboratory under recommended conditions.
- DNA is extracted and analysed using molecular testing methods to detect POLE gene mutations.
- Results are typically available within 35 days.
Factors That Can Affect Accuracy
Several factors can influence the reliability of this test's results.
- Low tumour cell content in the sample (at least 20% tumour nuclei are typically required)
- Poor quality or suboptimal preservation of the FFPE tissue block
- Rare genetic variants at primer binding sites, which may occasionally produce a false negative result
- Insufficient clinical history provided at the time of submission
Understanding Your POLE Gene Mutation Analysis Test Results
Results from the POLE gene mutation analysis test are interpreted in the context of your tumour type, clinical history, and other molecular markers. The table below outlines the main result categories.
| Result | Classification | Clinical Significance |
|---|---|---|
| Pathogenic mutation detected | Positive | Indicates an ultramutated tumour; generally associated with a more favourable prognosis and possible immunotherapy benefit |
| Variant of uncertain significance (VUS) | Inconclusive | Requires further specialist interpretation; cannot alone be used to change treatment |
| No mutation detected | Negative | Does not rule out other cancer subtypes; additional molecular 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.
Results During Special Conditions
- POLE mutation status is a characteristic of the tumour and cannot be changed through lifestyle measures. However, the following general steps are relevant for those with a personal or family history of POLE-associated cancers.
- Keep up with cancer screening schedules recommended by your doctor, particularly if you have a family history of colorectal or endometrial cancer
- Consider genetic counselling if hereditary PPAP syndrome is suspected in your family
- Maintain open communication with your oncologist about any new symptoms or changes in your health
Lupin Diagnostics POLE Gene Mutation Analysis Test Price
The POLE gene mutation analysis test cost at Lupin Diagnostics starts at ₹9,600. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. The approximate city-wise prices are listed below.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 9600 |
| CHENNAI | 9600 |
| HYDERABAD | 9600 |
| KOLKATA | 9600 |
| NAVI MUMBAI | 9600 |
| PUNE | 9600 |
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.
- Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The POLE gene carries the instructions for an enzyme that copies and proofreads DNA during cell division. When mutations occur in the proofreading section of this enzyme, errors accumulate in the tumour's DNA, which can drive cancer growth. The POLE gene mutation analysis test helps classify the tumour type, assess prognosis, and guide treatment decisions.
No. Unlike most diagnostic tests, this test uses tumour tissue rather than blood. The sample is typically an FFPE tissue block or slides from a prior biopsy or surgical procedure. In some cases, peripheral blood or bone marrow samples may be used, depending on clinical need.
POLE mutations have been identified in endometrial cancer, colorectal cancer, ovarian cancer, lung cancer, and certain brain tumours (diffuse glioma). Individuals with early-onset colorectal cancer or large numbers of colon polyps may also be tested for POLE mutations.
Not necessarily. A pathogenic POLE mutation is generally associated with a more favourable prognosis in endometrial and colorectal cancers. Some patients with POLE-mutated tumours may also respond better to immunotherapy. Your oncologist will explain what a positive result means for your specific case.
Yes. Germline (inherited) POLE mutations can cause a condition called polymerase proofreading-associated polyposis (PPAP), which raises the risk of colorectal cancer and related tumours. If an inherited mutation is suspected, genetic counselling and additional germline testing are recommended.
At Lupin Diagnostics, reports are delivered within 25 days of the laboratory receiving a suitable sample. This reflects the time required for the NGS-based sequencing and expert interpretation of results.
A VUS means a change in the POLE gene was detected, but its clinical impact is not yet fully established. This result cannot be used on its own to change your treatment plan. Your oncologist may recommend additional tests or specialist consultation to help interpret the findings further.
POLE Gene Mutation Analysis Test: Booking, Price, and Results
