PDGFRA Gene Selective Sequencing of Exons 12, 14 and 18 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cancer Detection and Treatment Planning
The PDGFRA Gene Selective Sequencing Test represents a significant advancement in precision oncology, offering targeted genetic analysis specifically designed to identify mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene. This sophisticated Next-Generation Sequencing (NGS) test focuses exclusively on exons 12, 14, and 18 – the critical regions where most clinically relevant PDGFRA mutations occur. These mutations play a pivotal role in the development and progression of various cancers, particularly gastrointestinal stromal tumors (GISTs).
What Does This Test Measure and Detect?
This specialized genetic test employs cutting-edge NGS technology to precisely sequence and analyze three specific exons of the PDGFRA gene:
- Exon 12 Mutations: Detects alterations in the juxtamembrane domain that can lead to constitutive activation of the receptor
- Exon 14 Mutations: Identifies changes in the tyrosine kinase domain that affect receptor signaling
- Exon 18 Mutations: Pinpoints specific mutations including the D842V variant, which has significant implications for treatment resistance
The test provides comprehensive detection of single nucleotide variants, insertions, deletions, and other genetic alterations within these critical regions, offering clinicians valuable insights for therapeutic decision-making.
Who Should Consider This Genetic Test?
This PDGFRA gene sequencing test is particularly recommended for individuals experiencing:
- Patients diagnosed with or suspected of having gastrointestinal stromal tumors (GISTs)
- Individuals with family history of GISTs or related cancers
- Patients requiring treatment selection guidance for tyrosine kinase inhibitor therapy
- Those with tumors showing resistance to standard imatinib treatment
- Individuals undergoing comprehensive cancer risk assessment with gastrointestinal symptoms
- Patients with unexplained abdominal masses or gastrointestinal bleeding
Significant Benefits of PDGFRA Genetic Testing
Undergoing PDGFRA selective sequencing provides numerous clinical advantages:
- Personalized Treatment Planning: Identifies specific mutations that determine response to targeted therapies
- Prognostic Information: Helps predict disease course and potential treatment outcomes
- Therapeutic Guidance: Determines suitability for tyrosine kinase inhibitors like imatinib, sunitinib, or regorafenib
- Family Risk Assessment: Provides information about potential hereditary cancer risks
- Early Detection: Enables timely intervention and improved treatment outcomes
- Comprehensive Analysis: Offers detailed mutation profiling beyond standard testing methods
Understanding Your Test Results
Your PDGFRA gene sequencing results will provide detailed information about the genetic landscape of your specific condition:
- Wild-Type Results: No mutations detected in the analyzed exons, suggesting standard treatment approaches may be appropriate
- Exon 18 D842V Mutation: Indicates potential resistance to imatinib but may respond to alternative targeted therapies
- Other Exon 18 Mutations: Various alterations that may influence treatment selection and prognosis
- Exon 12 or 14 Mutations: Specific alterations that can guide personalized treatment strategies
- Complex Mutation Patterns: Multiple mutations that require comprehensive therapeutic planning
All results should be interpreted by a qualified oncologist or genetic counselor who can provide personalized recommendations based on your complete clinical picture.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PDGFRA Gene Selective Sequencing of Exons 12, 14 and 18 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Oncology Genetics |
Pre-Test Preparation and Requirements
To ensure accurate results and comprehensive care, we recommend:
- Providing complete clinical history of the patient undergoing testing
- Participating in a genetic counseling session to discuss testing implications
- Completing a pedigree chart documenting family members affected by related conditions
- Consulting with your oncologist about the clinical relevance of testing
- Understanding the potential impact of results on treatment decisions
Nationwide Accessibility and Support
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Our dedicated team of genetic counselors and oncology specialists are available to guide you through the testing process and help interpret your results within the context of your overall health picture.
Take the Next Step in Your Cancer Care Journey
Don’t leave your treatment decisions to chance. The PDGFRA Gene Selective Sequencing Test provides the critical genetic information needed to make informed decisions about your cancer care. With our discounted price of $500 USD (regularly $700 USD), this comprehensive genetic analysis is both accessible and invaluable for your treatment planning.
Ready to schedule your test or have questions? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are standing by to help you navigate this important step in your healthcare journey and provide the personalized attention you deserve.
Take control of your cancer care with precise genetic information that can shape your treatment strategy and improve your outcomes. Your journey to personalized medicine starts with this essential genetic test.

