Microsatellite Instability Analysis
Also known as: Colorectal Cancer Screening, Hereditary Nonpolyposis Colorectal Cancer, Screening, Mismatch Repair Defect, Replication Repair (RER)
Use
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-High status may enhance the likelihood of tumor responsiveness to immune checkpoint inhibitor therapy.
Special Instructions
Not provided.
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.
Methodology
Multiplex polymerase chain reaction (PCR); capillary electrophoresis
Biomarkers
LOINC Codes
- 81711-4 - MSI mark Pnl Ca spec
- 43368-0 - MSI Tiss
- 55752-0 - Clinical info
- 31208-2 - Specimen source
- 66746-9 - Specimen type
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 8100-0 - Specimen preparation
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Unknown
Volume
Not provided
Minimum Volume
Not provided
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
Other tests from different labs that may be relevant