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PDGFRa Mutation Analysis

Molecular · Dermatology
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.

Table of Contents

Assay Description


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.

Specimen Requirements


FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Storage and Transport


Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.

Specimen Rejection Criteria


All specimens must be submitted according to the test directory instructions.  Before submitting specimen, please carefully review specimen requirements.


Listed below are possible causes for delays in specimen processing or possible specimen rejections or cancellations:


  • No patient identification on requisition form
  • No patient identification on specimen container or slides
  • No referring provider
  • No account information provided
  • No test ordered on requisition
  • No specimen source provided
  • Inappropriate specimen type
  • Insufficient volume for analysis
  • Inappropriate specimen container
  • Improper specimen transport
  • Specimen leaked in transport
  • Specimen submitted in incorrect or expired transport media
  • Slides broken beyond repair on receipt
  • Conflict between patient name on specimen and requisition form
  • Specimen not properly preserved
  • Sample containing a needle

A representative from Client Services will attempt to contact your office  to resolve specimen problems.  Additional documentation may be requested from your office to be returned by fax.  In the event that resolution is not possible, the specimen may be returned to your office.

Turn Around Time (TAT)


7 Days.

CPT Codes*


81404