94079-1

LOINC 2.82

TYMP gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

TYMP Full Mut Anl Bld/T Seq

Definition

  • Detection of mutations in the TYMP gene for the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Component

  • TYMP gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • Sequencing

Related names

  • Blood; ECGF1; Endothelial cell growth factor 1 (platelet-derived); full gene sequencing; Full Mut Anl; high-throughput sequencing; HTS; Identity or presence; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Nominal; Point in time; Random; sequencing of entire coding region; Thymidine phosphorylase; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • ECGF1
  • Endothelial cell growth factor 1 (platelet-derived)
  • full gene sequencing
  • Full Mut Anl
  • high-throughput sequencing
  • HTS
  • Identity or presence
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mutations
  • Next generation sequencing
  • NGS
  • Nominal
  • Point in time
  • Random
  • sequencing of entire coding region
  • Thymidine phosphorylase
  • Tissue
  • Tissue, unspecified
  • TYMP gene full mutation analysis
  • WB
  • Whole blood
  • Whole blood or Tissue