92995-0

LOINC 2.82

THBD gene full mutation analysis in Blood or Tissue by Sequencing

THBD gene Full Mut Anl Bld/T Seq

Definition

  • This test detects alterations in the THBD gene, which have been associated with one of several clinical phenotypes and hereditary disorders, namely an increased risk for thrombosis, atypical hemolytic uremic syndrome (aHUS), and hereditary excessive bleeding following physical trauma or surgery.

Component

  • THBD gene full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Sequencing

Related names

  • Blood; CD141; Document; Finding; Findings; full gene sequencing; Full Mut Anl; high-throughput sequencing; HTS; 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
  • CD141
  • Document
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • high-throughput sequencing
  • HTS
  • 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