PDGFRa Mutation Analysis

Bi-directional sequencing of exons 12 and 18 of the PDGFRA (platelet-derived growth factor alpha) gene. These exons are mutation hotspots that account for the majority of PDGFRA mutations detected in gastrointestinal stromal tumors (GISTs) including the common TKI-resistance mutation D842V. Solid tumor enrichment is performed before extraction. PDGFRA Amplification by FISH is available for detection of PDGFRA amplifications, which occur in approximately 30% of pediatric and 20% of adult high-grade astrocytomas, and may have prognostic and/or therapeutic implications. PDGFRA Rearrangement by FISH is also available for detection of FIP1L1-PDGFRA fusion, which may be found in myeloid/lymphoid neoplasms with eosinophilia. Bone marrow and peripheral blood are acceptable specimens.