EPCAM Deletion/Duplication Analysis

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Test Details


  • Lynch Syndrome

Test Includes

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)

Specimen Requirements


Whole blood


7 mL

Minimum Volume

4 mL


Lavender-top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled; improper anticoagulant

Clinical Information


Kang SY, Park CK, Chang DK, et al. Lynch-like syndrome: Characterization and comparison with EPCAM deletion carriers. Int J Cancer. 2015 Apr; 136(7):1568-1578. doi: 10.1002/ijc. 29133. 25110875
Kohlmann W, Gruber SB. Lynch syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. 2004 Feb 5; Seattle, Wash: University of Washington;1993-2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1211/. Accessed July 26, 2014. 20301390
Online Mendelian Inheritance in Man (OMIM™). Colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8. Baltimore, Md: Johns Hopkins University; Last updated February 4, 2010. Available at: http://www.ncbi.nlm.nih.gov/omim/613244. Accessed August 2, 2010.
Online Mendelian Inheritance in Man (OMIM™). Epithelial cellular adhesion molecule; EPCAM. Baltimore, Md: Johns Hopkins University; Last updated September 5, 2013. Available at: http://omim.org/entry/185535. Accessed July 28, 2014.
Online Mendelian Inheritance in Man (OMIM™). Lynch syndrome I. Baltimore, Md: Johns Hopkins University; Last updated June 4, 2010. Available at: http://www.ncbi.nlm.nih.gov/omim/120435. Accessed July 26, 2010.
Online Mendelian Inheritance in Man (OMIM™). MutS, E coli, homolog of, 2; MSH2. Baltimore, Md: Johns Hopkins University; Last updated February 5, 2010. Available at:http://www.ncbi.nlm.nih.gov/omim/609309. Accessed July 28, 2010.
Online Mendelian Inheritance in Man (OMIM™). Postmeiotic segregation increased, S cerevisiae, 2; PMS2. Baltimore, Md: Johns Hopkins University; Last updated September 21, 2009. Available at: http://www.ncbi.nlm.nih.gov/omim/600259.Accessed July 26, 2010.

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