82939-0

LOINC 2.82

Genetic variant details in Blood or Tissue by Molecular genetics method Narrative

Genetic variant details Bld/T

Definition

  • Narrative information (unstructured) about a genetic variant. The results may state that a mutation was not identified or include the variant(s) found. The location of the variant may be described at various levels, such as genomic (g.), coding (c.), and protein (p.) levels. Details may also include alternate identifiers for the variant (e.g dbSNP ID, Transcript reference sequence ID), the clinical significance (e.g. pathogenic, variant of unknown significance) and the change type (e.g. homozygous, heterozygous, wild type).

Component

  • Genetic variant details

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Nar

Method

  • Molgen

Related names

  • Blood; Finding; Findings; Genetics; Genomic; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Narrative; PCR; Point in time; Random; Report; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Finding
  • Findings
  • Genetics
  • Genomic
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Narrative
  • PCR
  • Point in time
  • Random
  • Report
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue