93420-8

LOINC 2.82

APOA1 gene full mutation analysis in Blood or Tissue by Sequencing

APOA1 Full Mut Anl Bld/T Seq

Definition

  • The test includes sequence analysis of variants in all coding regions and intron/exon boundaries of the Apolipoprotein A-I (APOA1) gene. Testing is performed for the diagnosis of individuals suspected of having APOA1 gene-associated familial amyloidosis. The overall result summary (positive/negative) along with information about variant(s) identified, interpretation, testing method(s) and recommendations are typically included in the report.

Component

  • APOA1 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; 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
  • 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