94238-3

LOINC 2.82

F12 gene full mutation analysis in Blood or Tissue by Sequencing

F12 gene Full Mut Anl Bld/T Seq

Definition

  • Full gene sequence analysis of the F12 gene to identify a pathogenic mutation associated with factor XII deficiency or hereditary angioedema with normal C1 inhibitor (FXII-HAE).[GHR gene: F12]

Component

  • F12 gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • beta-factor XIIa part 1; Blood; coagulation factor XII; coagulation factor XII (Hageman factor); coagulation factor XIIa heavy chain; coagulation factor XIIa light chain; Document; EC 3.4.21.38; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; HAE3; HAEX; HAF; Hageman factor; 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

  • beta-factor XIIa part 1
  • Blood
  • coagulation factor XII
  • coagulation factor XII (Hageman factor)
  • coagulation factor XIIa heavy chain
  • coagulation factor XIIa light chain
  • Document
  • EC 3.4.21.38
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • HAE3
  • HAEX
  • HAF
  • Hageman factor
  • 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