95786-0

LOINC 2.82

Gene XXX mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Gene XXX Fam Mut Anl Bld/T

Definition

  • Carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation. Mutation analysis only includes testing for the known familial mutation(s). To report the gene(s) tested, use Gene studied [ID] [LOINC: 48018-6]. To report the specific variant(s) tested, use the gene mutations tested term [LOINC: 36908-2].

Component

  • Gene XXX mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; Document; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutation; Mutations; Muts; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • LMTED
  • LTD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutation
  • Mutations
  • Muts
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue