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EPCAM Deletion/Duplication Analysis
- Lynch Syndrome
Deletion/duplication analysis of the terminal region of the EPCAM gene
Can confirm a clinical diagnosis of HNPCC and allow early diagnosis in family members, guiding preventive measures. Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal-dominant, genetically heterogeneous syndrome caused by heterozygous mutations in mismatch repair genes (MMR). HNPCC is estimated to account for 4% to 6% of colorectal cancer and is characterized by early onset, a predominant proximal location of colon cancer, multiple primary cancers, and significantly improved survival when compared stage for stage to sporadic colon cancer survival rates. EPCAM gene accounting for an estimated 1% to 3% of all detectable HNPCC syndrome mutations. Studies indicate that large deletions in the end of this gene can lead to a loss of MSH2 expression and result in HNPCC. Genetic testing can confirm the diagnosis of HNPCC and can also identify presymptomatic individuals among the patient's relatives.
This assay targets exons 8 and 9 of the EPCAM gene. This MLPA analysis will not detect deletions or duplications of the EPCAM gene that do not include exons 8 or 9 and may not detect certain other genomic rearrangements, such as translocations, inversions, or some partial exon rearrangements. Mosaic variants are not reliably detected by MLPA.
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)
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled; improper anticoagulant