94190-6

LOINC 2.82

BPGM gene full mutation analysis in Blood or Tissue by Sequencing

BPGM Full Mut Anl Bld/T Seq

Definition

  • Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary erythrocytosis.[GHR gene: BPGM]

Component

  • BPGM gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • bisphosphoglycerate mutase; Blood; Document; DPGM; ECYT8; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; 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

  • bisphosphoglycerate mutase
  • Blood
  • Document
  • DPGM
  • ECYT8
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • 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