LOINC display name : STK11 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : STK11 gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : STK11 gene Del Dup Full Mut Anl Bld/T;
LOINC description : Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing)
and deletion/duplication analysis for the detection of variants and large deletions/duplications
in the STK11 gene to confirm a diagnosis of Peutz-Jeghers syndrome (PJS), an autosomal
dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract,
pigmented macules on the skin and mouth, and other neoplasms.[GHR gene: STK11];
Has component