59067-9

LOINC 2.82

ALAS2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

ALAS2 gene Mut Anl Bld/T

Component

  • ALAS2 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • 5-aminolevulinate synthase 2; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase ALASE; ALASE; ALAS-E; aminolevulinate, delta-, synthase 2; aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia); ANH1; ASB; Blood; Delta-ALA synthetase2; EC 2.3.1.37; FLJ93603; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; XLDPP; XLEPP; XLSA

Index terms

  • 5-aminolevulinate synthase 2
  • 5-aminolevulinate synthase, erythroid-specific, mitochondrial
  • 5-aminolevulinic acid synthase ALASE
  • ALAS-E
  • ALAS2 gene targeted mutation analysis
  • ALASE
  • aminolevulinate, delta-, synthase 2
  • aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
  • ANH1
  • ASB
  • Blood
  • Delta-ALA synthetase2
  • EC 2.3.1.37
  • FLJ93603
  • Genetics
  • Heredity
  • Heritable
  • Identity or presence
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue
  • XLDPP
  • XLEPP
  • XLSA