77200-4

LOINC 2.82

SI gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

SI gene Mut Anl Bld/T

Definition

  • This term was created for, but is not limited in use to, the Life Technologies' SNaPshot assay, which can detect up to 37 specific mutations in the SI gene.

Component

  • SI gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; Identity or presence; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mut Anl; Mutations; Nominal; Oligosaccharide alpha-1,6-glucosidase; PCR; Point in time; Random; sucrase-isomaltase (alpha-glucosidase); Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Identity or presence
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • Oligosaccharide alpha-1,6-glucosidase
  • PCR
  • Point in time
  • Random
  • SI gene targeted mutation analysis
  • sucrase-isomaltase (alpha-glucosidase)
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue