21685-3

LOINC 2.82

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

HADHB gene Mut Anl Bld/T

Component

  • HADHB gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; ECHB; Genetics; Heredity; Heritable; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit; Identity or presence; Inherited; Long chain-3 hydroxyacyl-CoA dehydrogenase deficiency; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MSTP029; MTPB; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; TP-BETA; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • ECHB
  • Genetics
  • HADHB gene targeted mutation analysis
  • Heredity
  • Heritable
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
  • Identity or presence
  • Inherited
  • Long chain-3 hydroxyacyl-CoA dehydrogenase deficiency
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MSTP029
  • MTPB
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • TP-BETA
  • WB
  • Whole blood
  • Whole blood or Tissue