LOINC display name : PMS2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : PMS2 gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : PMS2 gene Del Dup Full Mut Anl Bld/T;
LOINC description : The coding sequences of PMS2 are amplified by polymerase chain reaction and each PCR
product (amplicon) then sequences bidirectionally using Sanger sequencing methodology.
The multiple-ligation-probe amplification assay (MLPA) was performed to detect copy
number variations (deletions and duplications) in the PMS2 gene. Exact breakpoints
are not determined for any large deletions or duplications detected by this analysis.;
Has component