LOINC display name : MLH1 MSH2 MSH6 PMS2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : MLH1 MSH2 MSH6 PMS2 gene deletion duplication and full mutation analysis in Blood
or Tissue by Molecular genetics method;
LOINC short name : MLH1 MSH2 MSH6 PMS2 gn Del Dup Ful M;
LOINC description : Gene mutations, deletion and duplication analysis is performed to confirm a clinical
diagnosis of Hereditary nonpolyposis colorectal cancer (HNPCC). Genes known to cause
HNPCC, including MLH1, MSH2, MSH6 and PMS2, may be amplified by PCR methods and sequenced.
Detection of copy number variations (deletions and duplications) may be performed
by multiple-ligation-probe amplification assay (MLPA).;
Has component