40872-4

LOINC 2.82

CBS gene c.833T>C [Presence] in Blood or Tissue by Molecular genetics method

CBS c.833T>C Bld/T Ql

Component

  • CBS gene.c.833T>C

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • 833T>C; Blood; CBS c.833T>C; cystathionine-beta-synthase; Genetics; Heredity; Heritable; HIP4; Ile278Thr; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; Pyridoxine responsive homocystinuria; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • 833T&gt
  • Blood
  • C
  • CBS c.833T&gt
  • CBS gene.c.833T>C
  • cystathionine-beta-synthase
  • Genetics
  • Heredity
  • Heritable
  • HIP4
  • Ile278Thr
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • Pyridoxine responsive homocystinuria
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue