MSH6 Deletion/Duplication Analysis

This test is intended for individuals who have had previous negative sequencing of the MSH6 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MSH6 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.

Copy number variations are assessed by multiple-ligation- probe amplification assay (MLPA) to detect gross deletions and duplications. Copy number analyses are designed to detect single exon, multi-exon, and full gene deletions or duplications. These analyses may not detect certain genomic rarrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected.

This test is not intended to detect somatic variants. Bone marrow transplantation may affect the outcome of these results. Please contact LabCorp to discuss testing options at 1-800-345-GENE.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Multiplex ligation-dependent probe amplification (MLPA)