Days Set Up
 
Analytic Time

3 - 10 days

MiChart Code
PDGFRA Mutation for GIST (Tissue/Slides)
Soft Order Code
PDGF

Test Updated:

Synonyms

PDGFRA Mutation Exon 12
PDGFRA Mutation Detection for Gastrointestinal Stromal Tumor
PDGFRA Mutation Exon 18
PDGFRA Mutation for GIST
PDGFRA
MLABEL
PDGF

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All specimens should be accompanied by a requisition.

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MLabs provides all the supplies necessary for the collection of specimens.

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Test Overview

Test Methodology

Polymerase Chain Reaction (PCR) followed by DNA sequence analysis

Test Usage

PDGFRA gene mutations occur in approximately 30% of gastrointestinal stromal tumors (GISTs) that are wild type for KIT mutation, and in 7% of GISTs overall. PDGFRA and KIT mutations are mutually exclusive in GISTs. The vast majority of PDGFRA gene mutations involve exons 12 and 18, and invariably result in constitutive activation of the PDGFRA protein. The most common PDGFRA mutation, D842V, is associated with imatinib therapy resistance. This DNA sequencing test will detect mutations within exons 12 and 18 of the PDGFRA gene. The tested regions correspond to PDGFRA amino acids 552-585 (exon 12) and 826-848 (exon 18). Appropriate specimens include formalin fixed paraffin-embedded blocks, unstained paraffin sections on slides, and fresh/frozen tissue. The submitted specimen should contain an adequate proportion of tumor nuclei (>40%) to enable mutation detection.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Offsite Collection Instructions

A formalin-fixed, paraffin-embedded tissue block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.

Normal Volume
Formalin-fixed, paraffin-embedded tissue. Extracted DNA is also acceptable if extracted in a CLIA certified laboratory.
Minimum Volume
 

Billing Information

CPT Code
81314, 88381-TC
Pro Fee Code
 
Insurance Auth Info
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.