Microsatellite Instability Analysis

CPT: 81301; 88381

Synonyms

  • Colorectal Cancer Screening
  • Hereditary Nonpolyposis Colorectal Cancer, Screening
  • Mismatch Repair Defect
  • Replication Repair (RER)

Special Instructions

This assay needs both (1) DNA prepared from FFPE (formalin-fixed and paraffin-embedded) tumor tissue and (2) matched normal tissue (FFPE or blood). Please provide a copy of the pathology report. This test will be delayed if the pathology report is not received. Please direct any questions regarding this test to customer service at 800-345-4363.


Expected Turnaround Time

10 - 14 days



Specimen Requirements


Specimen

One paraffin-embedded tumor and either whole blood or paraffin-embedded normal tissue


Volume

Eight unstained slides at 5 μM and one matching H&E slide or FFPE tissue block or 3-5 mL whole blood


Minimum Volume

Samples with ≥4 mm² tumor and normal tissue surface area and ≥50% tumor content are preferred; 3 mL whole blood


Container

FFPE tissue block or slides, lavender-top (EDTA) tube or green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube


Storage Instructions

Blocks and slides at room temperature; whole blood at 2°C to 8°C


Causes for Rejection

Tumor block containing insufficient tumor tissue or no tumor; broken or stained slides. 

Whole blood: Contaminated specimen; frozen whole blood received; leaking tube; clotted blood; hemolysis; specimen containing suspicious foreign material; quantity not sufficient for analysis


Test Details


Use

This test is used to identify tumors with microsatellite instability. High-frequency microsatellite instability (MSI-H) is associated with Lynch syndrome, but it is also found in 15% to 20% of sporadic colorectal and endometrial cancers. Lynch syndrome is an autosomal-dominant inherited cancer syndrome that predisposes to colorectal, endometrial, gastric, ovarian, upper urinary tract and other cancers. MSI-H status may enhance the likelihood of tumor responsiveness to immune checkpoint inhibitor therapy.


Limitations

MSI-H is a marker of underlying DNA mismatch repair defect but does not define specific gene mutations responsible for cancers. If direct testing for gene mutations responsible for Lynch syndrome is desired, please call customer service at 800-345-4363 for more information. This assay can detect 8% to 12% of mutant in a background of wild-type genomic DNA.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Multiplex polymerase chain reaction (PCR); capillary electrophoresis


References

NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2015.
 
Promega Technical Manual. MSI Analysis System v1.2. Oct 2012.
 
US Food and Drug Administration. Hematology/Oncology (Cancer) Approvals & Safety Notifications. FDA website: https://www.fda.gov/drugs/resources-information-approved-drugs/hematologyoncology-cancer-approvals-safety-notifications. Accessed April 2020.

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