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Test Code PDG12 PDGFRA Exon 12, Mutation Analysis


Advisory Information


This is not appropriate for evaluation of hypereosinophilic syndrome (HES) and systemic mast cell disease involving the FIP1L1-PDGFRA fusion. If that evaluation is desired, order CHICF / CHIC2 (4q12) Deletion (FIP1L1 and PDGFRA Fusion), FISH.

 

Special stains performed outside Mayo Clinic Laboratories and included with the case may be repeated and charged at the reviewing pathologist's discretion. Testing requested by referring physician may not be performed if deemed unnecessary by Mayo Clinic pathologist.



Necessary Information


A pathology/diagnostic report including a brief history is required. If available, include KIT Immunostain results.



Specimen Required


A quality specimen is essential for evaluation. Submit only tissue containing tumor cells; minimal tissue is required for evaluation.

 

Bone marrow aspirate (in EDTA) and specimens that have been decalcified are not appropriate specimens for this test. If these are received, testing will be canceled.

 

Supplies: Surgical Pathology Packaging Kit (T554) requested, but not required

 

Preferred:

Specimen Type: Formalin-fixed, paraffin-embedded (FFPE) tissue block with a minimum of 60% tumor cell population

Collection Instructions: Process all specimens into FFPE tissue blocks prior to submission.

 

Acceptable:

Specimen Type: Unstained slides with a minimum of 60% tumor population; slides may be stained and/or scraped.

Slides: A minimum of ten, 4- to 5-micron thick, unstained slides are required.


Forms

1. Pathology/Cytology Information (T707) in Special Instructions

2. If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

Useful For

Diagnosis and management of patients with gastrointestinal stromal tumors or other related tumors

 

Identification of a mutation in exon 12 of the PDGFRA gene

 

This is not appropriate for evaluation of hypereosinophilic syndrome (HES) and systemic mast cell disease involving the FIP1L1-PDGFRA fusion

Additional Tests

Test ID Reporting Name Available Separately Always Performed
SLIRV Slide Review in MG No, (Bill Only) Yes

Testing Algorithm

This test is performed in conjunction with SLIRV / Slide Review in MG. Additional testing may be performed after review by pathologist. Upon approval from the requesting clinician, PATHC / Pathology Consultation may be added, if appropriate.

Special Instructions

Method Name

Polymerase Chain Reaction (PCR) and Sequencing

Reporting Name

PDGFRA exon 12, Mutation Analysis

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

Tissue Specimens that have been decalcified (all methods); specimens that have not been formalin-fixed, paraffin-embedded

Reference Values

An interpretative report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81314-PDGFRA (platelet-derived growth factor receptor alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18)

88381-Microdissection, manual

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PDG12 PDGFRA exon 12, Mutation Analysis In Process

 

Result ID Test Result Name Result LOINC Value
54835 Result Summary 50397-9
54836 Result 62356-1
54837 Interpretation 69047-9
54838 Additional Information 48767-8
54839 Reason for Referral 42349-1
54840 Specimen 31208-2
54841 Source 31208-2
54842 Tissue ID 80398-1
54843 Released By 18771-6