PMS2 Deletion/Duplication Analysis

Casandra

Casandra Test Code LC14060Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 511725CPT Code 81319

PMS2 Deletion/Duplication Analysis

Also known as: Lynch Syndrome

Clinical Use

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Use

This test is intended for individuals who have had previous negative sequencing of the PMS2 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the PMS2 gene. If testing for a known family mutation, please submit a copy of the laboratory report from the index family member documenting the familial mutation.

Special Instructions

If testing for a known family mutation, please submit a copy of the laboratory report from the index family member documenting the familial mutation. Please contact LabCorp to discuss testing options at 1-800-345-GENE.

Limitations

This test may not detect certain genomic rearrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. The assay cannot determine exact breakpoints of deletions or duplications. The presence of pseudogenes can interfere with the detection of variants in genes like PMS2. Deletions/duplications in PMS2CL have not been associated with Lynch syndrome, but this assay may not determine if a deletion/duplication affects PMS2 or PMS2CL.

Test Details