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Epic Code LAB1230861 GNAS Gene Mutation Analysis

Interface Order Alias

1230862

Clinical Information

Tissue sections were examined by a pathologist to scribe relevant tumor. Next generation sequencing (NGS) was performed to detect codon 201 (exon 8) and codon 227 (exon 9) of the GNAS gene using Ion Torrent AmpliSeq technology. The presence of GNAS mutation may be informative to differentiate overlapping diseases. The lower limit of detection of this assay is 3-5% allele frequency. 

Collection Instructions

Specimen Collection: Body Fluid

Container/Tube: Screw cap, sterile container

Preferred Volume: Pancreatic cyst fluid - 1-2 mL   

Minimum Volume: Pancreatic cyst fluid - 0.5 mL

Collection Instructions: 

  • Place pancreatic cyst fluid in sterile container and refrigerate ASAP.

Processed Specimen

  • Pancreatic cyst fluid determined by pathologist

 

Specimen Collection: Paraffin Block

Container(s): Formulin

Collection Instructions:

  • Place specimen in 10% Formalin and order Tissue Pathology in addition to GNAS Mutation Analysis order on tissues. 

Processed Specimen

  • Tissue Path/FFPE

Rejection Criteria

Determined by pathologist for tissues and ATL staff for pancreatic cyst fluids.

Specimen Stability

FFPE: Ambient
Pancreatic cyst fluid: Refrigerated

Test Frequency

Usual TAT is 7 days.  Run once per week.

Reference Range

Normal = Not Detected                                                  
Abnormal = Detected

Performing Department

Molecular Diagnostics

Performing Department Laboratory Location

Corewell Health Advanced Technology Laboratory (ATL), Grand Rapids, MI

Methodology

Ion Torrent AmpliSeq Technology

CPT

81479

CDM Code

3008147902

Epic Test ID

1230102539

LOINC

In Process

Reviewed Date

6/22/2023