PDGFRa Mutation Analysis
Also known as: PDGFR Alpha Mutation Analysis
Use
Bi-directional sequencing of exons 12 and 18 of the PDGFRA gene, crucial for detecting mutations in gastrointestinal stromal tumors (GISTs), including the TKI-resistance mutation D842V. PDGFRA amplifications and fusions are relevant for certain astrocytomas and myeloid/lymphoid neoplasms with eosinophilia.
Special Instructions
PDGFRA Amplification and Rearrangement by FISH are available for additional detection purposes. Solid tumor enrichment is done prior to extraction.
Limitations
This test focuses on exons 12 and 18 only, potentially missing mutations outside these areas. Test efficacy is dependent on sample quality and tumor content.
Methodology
Sanger
Biomarkers
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Paraffin block or 1 H&E slide plus 5-10 unstained slides
Collection Instructions
Use positively-charged slides and 10% NBF fixative. Avoid zinc fixatives.
Storage Instructions
Use cold pack for transport, ensuring it is not in direct contact with the specimen.