PDGFRA Mutation Screening (Exons 12, 14, & 18) Test: Booking, Price, and Results
About PDGFRA Mutation Screening (Exons 12, 14, & 18) Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | PDGFRA mutation analysis, platelet-derived growth factor receptor alpha mutation test, PDGFRA gene sequencing (exons 12, 14, 18) |
| Sample Type | FFPE (formalin-fixed, paraffin-embedded) tumour tissue block |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Adults diagnosed with or suspected of having gastrointestinal stromal tumour (GIST), typically ages 40 to 70 |
| Price | Starting at ₹15,000 |
What Is a PDGFRA Mutation Screening Test?
The PDGFRA mutation screening test analyses a tumour tissue sample for specific mutations in the PDGFRA gene, which contains instructions for making a protein involved in cell growth signalling. Doctors typically order it when a patient has been diagnosed with or is suspected of having a gastrointestinal stromal tumour (GIST), a type of tumour that develops in the digestive tract. The test is also known as platelet-derived growth factor receptor alpha mutation test or PDGFRA gene sequencing. The sample used is a formalin-fixed, paraffin-embedded (FFPE) tumour tissue block, collected during a biopsy or surgical procedure.
What Does a PDGFRA Mutation Screening Test Measure?
This test examines three specific regions, called exons, of the PDGFRA gene. Mutations in these regions cause the PDGFRA protein to remain permanently switched on, which can drive uncontrolled cell growth. The table below describes what each exon covers.
| Exon Tested | What It Looks For |
|---|---|
| Exon 12 | Mutations in the juxtamembrane domain, a region that normally keeps the protein inactive, are found in about 1 to 2% of GISTs. |
| Exon 14 | Less common mutations, often involving a change at codon 659 (a specific position in the gene) |
| Exon 18 | The most frequently mutated region: up to 75% of all PDGFRA-mutated tumours carry the D842V change here. |
Why Is a PDGFRA Mutation Screening Test Done?
A doctor may order this test after a diagnosis of GIST has been established to identify PDGFRA gene mutations and guide treatment decisions. The PDGFRA mutation screening test helps identify whether a patient's tumour carries a specific mutation that may influence which therapies are likely to work.
Common Symptoms That May Require This Test
The following symptoms in a GIST patient may prompt the doctor to request mutation screening:
- Abdominal pain or swelling
- Unexplained weight loss or loss of appetite
- Nausea or vomiting
- Blood in the stool
- Vomiting blood (from tumour-related bleeding)
- A feeling of fullness after eating very little
Conditions This Test Can Help Detect
This test is primarily used in the context of the following:
- Characterisation of gastrointestinal stromal tumours (GISTs) by identifying PDGFRA gene mutations.
- Identification of specific PDGFRA mutation subtypes (e.g., D842V, N659K) to guide therapy selection.
- Distinguishing PDGFRA-mutated GIST from KIT-mutated or wild-type GIST.
How to Prepare and What to Expect
No special preparation is needed from the patient for the PDGFRA mutation screening test. The sample is tumour tissue already collected during a biopsy or surgery.
Do You Need to Fast?
No fasting is required. This test does not use a blood sample, so there are no dietary restrictions before submission of the tissue sample.
Practical Tips Before Your Test
The following steps help ensure the tissue sample is suitable for analysis:
- Provide the pathology report and relevant clinical information requested by your doctor or laboratory.
- Ensure the pathology report from the original biopsy or surgery accompanies the tissue block.
- The most recent tumour sample is preferred; inform your doctor if multiple samples are available.
- The FFPE tissue block should be stored at room temperature (18 to 28 degrees Celsius) during transport.
Step-by-Step Procedure
The PDGFRA mutation screening test procedure involves the following steps:
- Tumour tissue is collected during a biopsy or surgical resection. This step is completed before the mutation test is ordered.
- The pathology department processes the tissue into an FFPE block, which preserves the tumour cells for molecular analysis.
- Laboratory scientists extract genomic DNA (the genetic material) from thin sections of the FFPE block using a specialised extraction process.
- The three target regions (exons 12, 14, and 18) of the PDGFRA gene are amplified using a technique called PCR (polymerase chain reaction), which creates many copies of the DNA segments for easier analysis.
- The amplified DNA is analysed using Sanger sequencing, a method that reads the exact sequence of DNA letters to detect any changes or mutations.
- A molecular pathologist reviews the sequencing data and prepares a written report with findings.
Factors That Can Affect Accuracy
The following factors may influence whether a result is obtained and how reliable it is:
- Insufficient tumour cell content in the sample (at least 10% tumour cells are needed in the processed area).
- Poor quality or degraded DNA due to improper tissue fixation.
- Low mutation burden (Sanger sequencing can detect mutations when at least 20% of the sample carries the variant).
- Inadequate tissue quantity submitted for testing.
Understanding Your PDGFRA Mutation Screening Test Results
This is a qualitative test, meaning results indicate whether a mutation is present or absent, not a numerical value. Your oncologist or molecular pathologist will interpret the findings alongside your clinical history and other test reports.
| Result | Interpretation |
|---|---|
| No mutation detected (wild-type) | No PDGFRA mutation found in exons 12, 14, or 18. The tumour may carry a KIT mutation or be classified as wild-type GIST. |
| Mutation detected | A specific mutation has been identified (e.g., D842V in exon 18, N659K in exon 14, or a deletion/insertion in exon 12). The exact mutation type is reported. |
Disclaimer: These interpretations are provided as general guidance. Your doctor will interpret the results in the context of your medical history, tumour characteristics, symptoms, and other diagnostic findings. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
This test is used for cancer diagnosis and therapy planning, not routine health monitoring. The following general points apply:
- Attend all scheduled follow-up appointments with your oncologist to monitor your condition.
- Share the test results with every member of your care team so that treatment decisions are well coordinated.
- Ask your doctor to explain what your specific mutation result means for your treatment options.
Lupin Diagnostics PDGFRA Mutation Screening Test Price
The PDGFRA mutation screening test cost at Lupin Diagnostics starts at ₹15,000. This test requires a visit to a Lupin Diagnostics centre or submission of the tissue block through the centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 15000 |
| CHENNAI | 15000 |
| HYDERABAD | 15000 |
| KOLKATA | 15000 |
| NAVI MUMBAI | 15000 |
| PUNE | 15000 |
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 the PDGFRA mutation screening test online:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time to submit the FFPE tissue block and accompanying clinical documents.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This test identifies mutations in the PDGFRA gene in patients with gastrointestinal stromal tumours (GIST). The results help confirm the diagnosis and assist doctors in choosing the most appropriate treatment. It is ordered after tumour tissue has already been obtained through biopsy or surgery.
These three exons are known mutation hotspots in the PDGFRA gene. They account for the large majority of PDGFRA mutations found in GIST patients. Exons 12 and 18 are the most frequently affected, while exon 14 mutations are less common but still clinically relevant.
The D842V mutation in exon 18 is the most common exon 18 PDGFRA mutation and one of the most frequently identified PDGFRA mutations in GIST. It is associated with resistance to certain standard treatments. However, it responds to a specifically approved targeted therapy. Your oncologist will explain what this means for your treatment plan.
The test requires a formalin-fixed, paraffin-embedded (FFPE) tumour tissue block. This is a preserved piece of tumour tissue prepared by the pathology department after a biopsy or surgical removal. Blood samples cannot be used for this test.
At Lupin Diagnostics, the report is delivered in 15 days. This turnaround time reflects the detailed laboratory process involved, including DNA extraction, PCR amplification, and sanger sequencing, followed by expert analysis.
No. This test requires submission of a tumour tissue block that has been prepared by a pathology department. Home collection is not available. The sample must be submitted at a Lupin Diagnostics centre along with the relevant clinical documents.
PDGFRA mutations are found in approximately 5% to 10% of all GIST cases. Among patients whose tumours do not have a KIT mutation (known as KIT wild-type GIST), around 30% carry a PDGFRA mutation. The PDGFRA mutation screening test helps identify this specific subgroup accurately.
PDGFRA Mutation Screening (Exons 12, 14, & 18) Test: Booking, Price, and Results
