95795-1

LOINC 2.82

HBG1 and HBG2 genes full mutation analysis in Blood or Tissue by Sequencing

HBG1 + HBG2 Full Mut Anl Bld/T Seq

Definition

  • Full gene sequence analysis of the gamma globin genes, HBG1 and HBG2, is performed to assess for variants causing conditions such as neonatal hemolytic anemia, cyanosis, methemoglobinemia, and nondeletional hereditary persistence of fetal hemoglobin (HPFH). Testing is useful to characterize abnormal hemoglobins identified by electrophoresis and suspected to be due to gamma chain variants. This code is used for the test order and to represent the overall report, which may include the variant(s) found, testing method, interpretation, recommendations and references.

Component

  • HBG1 gene & HBG2 gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; gamma Globin; Genetics; HBG; HBG1 + HBG2; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Document
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • gamma Globin
  • Genetics
  • HBG
  • HBG1 + HBG2
  • HBG1 gene & HBG2 gene full mutation analysis
  • Heredity
  • Heritable
  • high-throughput sequencing
  • HTS
  • Inherited
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutations
  • Next generation sequencing
  • NGS
  • Point in time
  • Random
  • sequencing of entire coding region
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue