MLH1 Deletion/Duplication Analysis

Casandra

Casandra Test Code LC72697Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 511690

MLH1 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 MLH1 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MLH1 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

For testing a known family mutation, a copy of the laboratory report from the index family member documenting the familial mutation must be submitted.

Limitations

Copy number variations are analyzed using a multiplex ligation-dependent probe amplification assay (MLPA) to detect gross deletions and duplications. This method is not capable of detecting balanced or unbalanced translocations, inversions, or certain partial exon rearrangements. The test is not intended for identifying somatic variants, and results may be affected by bone marrow transplantation.

Test Details