Lynch Syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)

Use

This test is used to identify individuals with Lynch syndrome (hereditary non‑polyposis colorectal cancer, HNPCC) by detecting single‑nucleotide variants, deletions, and duplications in the MSH2 gene and analyzing 3′ deletions in the EPCAM gene that disrupt MSH2 transcription. A positive result indicates a pathogenic or likely pathogenic variant in MSH2 or EPCAM, suggesting Lynch syndrome; a negative result means no such variants were detected but does not exclude Lynch syndrome—interpretation should consider the patient's personal and family history and may require broader testing. Informed consent and genetic counseling are strongly recommended.

Not provided.