40873-2

LOINC 2.82

CBS gene c.919G>A [Presence] in Blood or Tissue by Molecular genetics method

CBS c.919G>A Bld/T Ql

Component

  • CBS gene.c.919G>A

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • 919G>A; Blood; CBS c.919G>A; cystathionine-beta-synthase; Genetics; Gly307Ser; Heredity; Heritable; HIP4; 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

  • 919G&gt
  • A
  • Blood
  • CBS c.919G&gt
  • CBS gene.c.919G>A
  • cystathionine-beta-synthase
  • Genetics
  • Gly307Ser
  • Heredity
  • Heritable
  • HIP4
  • 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