PDGFRA Gene PDGFRA, selective sequencing of exons 12, 14 and 18 NGS Genetic Test
Short Name: PDGFRA Exon 12,14,18 NGS
Also known as: PDGFRA mutation analysis, GIST PDGFRA sequencing, PDGFRA exon 12/14/18 test
PDGFRA Gene PDGFRA, selective sequencing of exons 12, 14 and 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in exons 12, 14, and 18 of the PDGFRA gene, which are commonly associated with GISTs. The results help in: 1) Confirming the diagnosis of GIST, 2) Predicting response to targeted therapies, 3) Identifying patients who may benefit from specific TKIs, 4) Guiding prognosis, 5) Aiding in family counseling if a germline mutation is suspected.
- Test Code
- 6008
- CPT Code
- 81479
- ICD Code
- C49.A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications of the results.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a fingerstick blood drop will be placed on the card.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in exons 12, 14, and 18 of the PDGFRA gene, which are commonly associated with GISTs. The results help in: 1) Confirming the diagnosis of GIST, 2) Predicting response to targeted therapies, 3) Identifying patients who may benefit from specific TKIs, 4) Guiding prognosis, 5) Aiding in family counseling if a germline mutation is suspected.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card
- Label the sample with patient name and date of birth
- If using FTA card, allow it to dry completely before sealing
- Transport the sample to the laboratory within 24 hours if refrigerated
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Targeted PDGFRA mutation testing is essential for GIST management, as it predicts response to tyrosine kinase inhibitors like imatinib and sunitinib."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
No mutation detected
No pathogenic mutation in exons 12, 14, or 18. Consider testing for KIT mutations or other genes.
Action: Discuss alternative treatment options with oncologist.
Mutation in exon 18 (e.g., D842V)
Associated with primary resistance to imatinib, but may respond to avapritinib.
Action: Consider avapritinib or clinical trials.
Mutation in exon 12 or 14
Generally sensitive to imatinib and sunitinib.
Action: Standard TKI therapy may be effective.
Consult your oncologist if you have been diagnosed with GIST and are considering targeted therapy. Also, if you have a family history of GIST or related syndromes, genetic counseling is recommended.
Limitations
- ⚠This test only covers exons 12, 14, and 18; mutations in other exons or genes (e.g., KIT) are not detected
- ⚠Large deletions or rearrangements may not be detected by NGS
- ⚠Somatic mutations may be missed if tumor content is low
- ⚠Results should be interpreted in conjunction with clinical and pathological findings
Risks & Considerations
- ●Minimal risk of bruising at the blood draw site
- ●Fainting or dizziness during blood collection
- ●Infection (rare)
Interfering Factors
- ●Poor quality DNA due to improper sample handling
- ●Contamination during sample collection
- ●Presence of hematologic malignancies may cause clonal hematopoiesis interference
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | PDGFRA Gene PDGFRA, selective sequencing of exons 12, 14 and 18 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PDGFRA Gene PDGFRA, selective sequencing of exons 12, 14 and 18 NGS Genetic Test |
Frequently Asked Questions
What is the PDGFRA gene?
Why are exons 12, 14, and 18 specifically tested?
What is the cost of this test?
What sample is needed?
Do I need to fast before the test?
How long does it take to get results?
What does a positive result mean?
Can this test be done on a tumor tissue sample?
Is this test covered by insurance?
Is home sample collection available?
What is the difference between this test and a full PDGFRA gene sequencing?
Who should order this test?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.