21714-1

LOINC 2.82

MT-TL1 gene m.3243A>G [Presence] in Blood or Tissue by Molecular genetics method

MT-TL1 m.3243A>G Bld/T Ql

Definition

  • Mitochondrial myopathy; Encephalopathy; Lactic acidosis; Strokelike episodes

Component

  • MT-TL1 gene.m.3243A>G

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • A3243G; Blood; Diabetes mellitus-deafness syndrome maternally inherited; Genetics; Heredity; Heritable; Inherited; MELAS syndrome; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MTTL1; MT-TL1 m.3243A>G; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; tRNA leucine 1; tRNA leucine 1 (UUA/G); tRNA-leu; WB; Whole blood; Whole blood or Tissue

Index terms

  • A3243G
  • Blood
  • Diabetes mellitus-deafness syndrome maternally inherited
  • G
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • MELAS syndrome
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MT-TL1 gene.m.3243A>G
  • MT-TL1 m.3243A&gt
  • MTTL1
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tissue
  • Tissue, unspecified
  • tRNA leucine 1
  • tRNA leucine 1 (UUA/G)
  • tRNA-leu
  • WB
  • Whole blood
  • Whole blood or Tissue