69489-3

LOINC 2.82

VHL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

VHL gene Fam Mut Anl Bld/T

Definition

  • This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the Von Hipple-Lindau (VHL) gene. Mutation analysis only includes testing for the known familial mutation(s).

Component

  • VHL gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; Document; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; HRCA1; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; PCR; Point in time; pVHL; Random; RCA1; Tissue; Tissue, unspecified; VHL1; von Hippel-Lindau syndrome; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • HRCA1
  • Inherited
  • LMTED
  • LTD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mutation
  • Mutations
  • Muts
  • PCR
  • Point in time
  • pVHL
  • Random
  • RCA1
  • Tissue
  • Tissue, unspecified
  • VHL1
  • von Hippel-Lindau syndrome
  • von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • WB
  • Whole blood
  • Whole blood or Tissue