LOINC display name : MSH2 gene deletion duplication and full mutation analysis and EPCAM gene exons 8 and
9 del and dup mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : MSH2 gene deletion duplication and full mutation analysis and EPCAM gene exons 8 and
9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics
method;
LOINC short name : MSH2 DelDup Full EPCAM 8 9 DelDup Bld/T;
LOINC description : This test includes full sequencing analysis of the MSH2 gene as well as deletions
and/or duplication analysis of one or more exons in the MSH2 gene and exons 8 and
9 in the EPCAM gene. Testing is performed for the diagnosis of Lynch syndrome (also
known as hereditary nonpolyposis colorectal cancer (HNPCC)) and for predictive diagnosis
and potential early intervention for at risk family members.;
Has component