94216-9

LOINC 2.82

STK11 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

STK11 gene Del+Dup + Full Mut Anl Bld/T

Definition

  • 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]

Component

  • STK11 gene deletion+duplication & full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; hLKB1; Inherited; LKB1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PJS; Point in time; Random; sequencing of entire coding region; serine/threonine kinase 11; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Del+Dup + Full Mut Anl
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • Heredity
  • Heritable
  • hLKB1
  • Inherited
  • LKB1
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutations
  • PCR
  • PJS
  • Point in time
  • Random
  • sequencing of entire coding region
  • serine/threonine kinase 11
  • STK11 gene deletion+duplication & full mutation analysis
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue