76063-7

LOINC 2.82

MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

MSH2+MLH1+MSH6 gene Fam Mut Anl Bld/T

Definition

  • This term is used for carrier or diagnostic testing for at-risk or presymptomatic relatives of an affected individual who has a previously identified known genetic mutation within the MLH1, MSH2 or MSH6 genes. Mutations in these genes cause hereditary nonpolyposis colorectal cancer (HNPCC). Mutation analysis only includes testing for the known familial mutation.

Component

  • MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • BAT-26; Blood; COCA1; COCA2; Colon cancer nonpolyposis type 1; Document; Fam Mut Anl; FCC1; FCC2; Finding; Findings; G/T mismatch-binding protein gene; Genetics; GTBP; GTMBP; Hereditary Nonpolyposis Colorectal Cancer; Heredity; Heritable; hMLH1; HNPCC; HNPCC1; HNPCC2; HNPCC5; HSAP; Inherited; LCFS2; LMTED; LTD; Lynch syndrome; MGC5172; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MSH2+MLH1 gene; MSH2+MLH1+MSH6 gene; Mut; Mutation; Mutations; mutL homolog 1; MutL homolog 1, colon cancer, nonpolyposis type 2; Muts; mutS homolog 2; mutS homolog 6; p160; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • BAT-26
  • Blood
  • COCA1
  • COCA2
  • Colon cancer nonpolyposis type 1
  • Document
  • Fam Mut Anl
  • FCC1
  • FCC2
  • Finding
  • Findings
  • G/T mismatch-binding protein gene
  • Genetics
  • GTBP
  • GTMBP
  • Hereditary Nonpolyposis Colorectal Cancer
  • Heredity
  • Heritable
  • hMLH1
  • HNPCC
  • HNPCC1
  • HNPCC2
  • HNPCC5
  • HSAP
  • Inherited
  • LCFS2
  • LMTED
  • LTD
  • Lynch syndrome
  • MGC5172
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • MSH2+MLH1 gene
  • MSH2+MLH1+MSH6 gene
  • Mut
  • Mutation
  • Mutations
  • mutL homolog 1

13 further terms