Lynch syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is an inherited cancer syndrome mainly caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. MMR genes encode proteins that repair small sequence errors, or mismatches, during DNA replication. Pathogenic variants in mismatch repair genes can cause widespread genomic instability characterized by the expansion and contraction of short tandem repeat sequences (microsatellites). Lynch syndrome is predominantly characterized by significantly increased risks for colorectal and endometrial cancer. The lifetime risk for colorectal cancer is highly variable and dependent on the gene involved. Other malignancies within the tumor spectrum include gastric cancer, ovarian cancer, hepatobiliary and urinary tract carcinomas, and small bowel cancer. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes. 

Institutional Price 
$2,000.00
TAT 
6 weeks
CPT Code 
81292
81295
81298
81317
81479
Test Code 
5151
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
If sending saliva, 2 kits are required.
Any gene in the Lynch Syndrome Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
Variants within exon 15 of the PMS2 gene may not be analyzed or reported due to homology issues. Due to high homology, the sensitivity of this assay may be reduced in exon 2 and exons 12-15 of PMS2.