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...
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.
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.
Multiplex ligation-dependent probe amplification (MLPA)
Information on volume, storage, and collecting
tube with a lavender top (EDTA)
Keep the sample at room temperature.
broken or leaky bottle, unlabeled container, the wrong anticoagulant
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.
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.
|Test Type||Colorectal Cancer - MLH1 and MSH2 Deletion/Duplication|
Colorectal Cancer - MLH1 and MSH2 Deletion/Duplication (Pathology Test)
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