PDGFRA Mutation Analysis (Solid Tumors) – MC060
🧬 Oncology & Targeted Therapy
₹16999
MRP ₹18500
Sample Time: 4:30 PM
Report: 10th Working Day
Sample Type: Tissue Block (FFPE) / Tumor Tissue
Test Code: MC060
Report: 10th Working Day
Sample Type: Tissue Block (FFPE) / Tumor Tissue
Test Code: MC060
About this Test:
The PDGFRA Mutation Analysis detects genetic changes in the Platelet-Derived Growth Factor Receptor Alpha gene within solid tumor tissue. It is a critical test for patients with Gastrointestinal Stromal Tumors (GIST).
✔ Treatment Guide: Determines if the tumor will respond to standard drugs like Imatinib (Gleevec) or requires alternative therapies.
✔ Prognostic Marker: Helps predict how aggressive the tumor might be.
✔ Differentiation: Helps diagnose GIST cases that are negative for the more common KIT mutation.
✔ Uses advanced molecular sequencing on tumor tissue blocks.
The PDGFRA Mutation Analysis detects genetic changes in the Platelet-Derived Growth Factor Receptor Alpha gene within solid tumor tissue. It is a critical test for patients with Gastrointestinal Stromal Tumors (GIST).
✔ Treatment Guide: Determines if the tumor will respond to standard drugs like Imatinib (Gleevec) or requires alternative therapies.
✔ Prognostic Marker: Helps predict how aggressive the tumor might be.
✔ Differentiation: Helps diagnose GIST cases that are negative for the more common KIT mutation.
✔ Uses advanced molecular sequencing on tumor tissue blocks.
Why is PDGFRA Testing Vital for GIST?
Gastrointestinal Stromal Tumors (GIST) are driven by mutations in specific genes. While most are caused by the KIT gene, about 5-10% are caused by mutations in the PDGFRA gene. Knowing exactly which gene is mutated is the key to Precision Medicine.
The Drug Resistance Factor
Not all mutations respond to the same drugs.
- Standard Therapy: Most GISTs respond well to a drug called Imatinib.
- PDGFRA D842V Mutation: This specific mutation (found in Exon 18 of the PDGFRA gene) makes the tumor resistant to Imatinib. If a patient has this mutation, taking Imatinib will not work.
- Alternative Therapy: Patients with the D842V mutation may respond better to newer drugs like Avapritinib.
Sample Requirement
This is not a blood test. It requires a sample of the tumor tissue, usually provided as a Formalin-Fixed Paraffin-Embedded (FFPE) block from a biopsy or surgery.
Frequently Asked Questions (FAQ)
Q1: What is the purpose of the PDGFRA mutation test?
The primary purpose is to guide treatment for GIST. It identifies whether the tumor has specific mutations that make it resistant or sensitive to targeted therapies like tyrosine kinase inhibitors (TKIs).
The primary purpose is to guide treatment for GIST. It identifies whether the tumor has specific mutations that make it resistant or sensitive to targeted therapies like tyrosine kinase inhibitors (TKIs).
Q2: Why did my doctor order this if I already tested for KIT?
Most GISTs have KIT mutations. However, if the KIT test is negative (wild-type), the next step is to check for PDGFRA mutations. About 30-40% of "KIT-negative" GISTs actually have a PDGFRA mutation.
Most GISTs have KIT mutations. However, if the KIT test is negative (wild-type), the next step is to check for PDGFRA mutations. About 30-40% of "KIT-negative" GISTs actually have a PDGFRA mutation.
Q3: What sample is needed?
We need the tumor tissue block (paraffin block) from a previous biopsy or surgery. Please provide a copy of the Histopathology report along with the block.
We need the tumor tissue block (paraffin block) from a previous biopsy or surgery. Please provide a copy of the Histopathology report along with the block.
Q4: Why does the report take 10 days?
This is a complex molecular test involving DNA extraction from tissue, PCR amplification, and sequencing to identify specific gene mutations. This rigorous process takes time to ensure 100% accuracy.
This is a complex molecular test involving DNA extraction from tissue, PCR amplification, and sequencing to identify specific gene mutations. This rigorous process takes time to ensure 100% accuracy.
Q5: Is this test useful for tumors other than GIST?
While primarily for GIST, PDGFRA mutations are also seen in some other conditions like Hypereosinophilic Syndrome (HES), Inflammatory Fibroid Polyps, and certain gliomas. Your oncologist determines its necessity.
While primarily for GIST, PDGFRA mutations are also seen in some other conditions like Hypereosinophilic Syndrome (HES), Inflammatory Fibroid Polyps, and certain gliomas. Your oncologist determines its necessity.