81842-7

LOINC 2.82

BCKDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

BCKDHB Mut Anl Bld/T

Component

  • BCKDHB gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • BCKDE1B; BCKDH E1-beta; Blood; Branch chain ketoaciduria; branched chain keto acid dehydrogenase E1, beta polypeptide; Document; E1B; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Maple syrup urine disease; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • BCKDE1B
  • BCKDH E1-beta
  • Blood
  • Branch chain ketoaciduria
  • branched chain keto acid dehydrogenase E1, beta polypeptide
  • Document
  • E1B
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Maple syrup urine disease
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue