Colorectal Cancer - MLH1 and MSH2 Deletion/Duplication Test Cost & Procedure

Examination Details

Technology used

Molecular

Operate

This examination is designed for people who have previously undergone negative MSH2 gene sequencing but have not previously undergone deletion/duplication analysis, or who have a family relative who has been found to have a significant MSH2 gene deletion or duplication. If experimenting with a known household modification, a manuscript of the index home member's lab statement substantiating the modification should be proposed.

Restrictions

Multiple-ligation-probe amplification assays (MLPA) are used to measure copy number variated to find significant duplications and deletions. Single exon, multiexonsexon, and complete gene deletions or duplications can all be found using copy number analysis. The precise breakpoints of any deletions or duplications found cannot be determined by this test.

The goal of this test is not to find somatic variations. The outcomes of these experiments may be impacted by bone marrow transplantation. Call LabCorp at 1-800-345-GENE to discuss testing choices.

LabCorp created this test and determined its performance parameters.

Strategy

Multiplex ligation-dependent probe amplification (MLPA)

Requirements for Specimens

Information on volume, storage, and collecting

Specimen

whole blood

Volume

7 mL

Lowest Volume

4 mL

Container

tube with a lavender top (EDTA)

Storage Guidelines

Keep the sample at room temperature.

Rejection Reasons

broken or leaky bottle, unlabeled container, the wrong anticoagulant

What is the test's clinical application?

Lynch syndrome, also comprehended as HNPCC syndrome, is a an ailment that can be caught sight by this examination. The MSH2 gene, which produces the mismatch repair protein MSH2, can be examined for single-nucleotide variations, deletions, and duplications. Additionally, it examines EPCAM gene 3' deletions, which are known to impair MSH2's proper transcription.

What clinical justifications exist for this test?

In general, when IHC analysis of mismatch repair proteins has been conducted on the tumor and is suggestive of an inherited mutation in the MSH2 gene, this test may be recommended for people with a personal history of Lynch syndrome-related cancer.

In addition to sebaceous carcinomas and keratoacanthomas in Muir-Torre syndrome, Lynch syndrome-related cancers also include colorectal, endometrial, gastric, ovarian, pancreatic, renal pelvis, brain (often glioblastoma), biliary tract, and small intestinal cancers.

Following genetic counseling, informed consent is highly advised. When possible, you should think about evaluating the family member who was the youngest when their cancer-related Lynch syndrome diagnosis was made.