69484-4

LOINC 2.82

FBN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

FBN1 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 FBN1 gene. Mutation analysis only includes testing for the known familial mutation(s).

Component

  • FBN1 gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • ACMICD; Blood; Document; ECTOL1; Fam Mut Anl; FBN; fibrillin 1; Fibrillin 1 (Marfan syndrome); Finding; Findings; Genetics; GPHYSD2; Heredity; Heritable; Inherited; LMTED; LTD; MASS; MFS1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; OCTD; PCR; Point in time; Random; SGS; SSKS; Tissue; Tissue, unspecified; WB; Weill-Marchesani syndrome; Whole blood; Whole blood or Tissue; WMS; WMS2

Index terms

  • ACMICD
  • Blood
  • Document
  • ECTOL1
  • Fam Mut Anl
  • FBN
  • fibrillin 1
  • Fibrillin 1 (Marfan syndrome)
  • Finding
  • Findings
  • Genetics
  • GPHYSD2
  • Heredity
  • Heritable
  • Inherited
  • LMTED
  • LTD
  • MASS
  • MFS1
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mutation
  • Mutations
  • Muts
  • OCTD
  • PCR
  • Point in time
  • Random
  • SGS
  • SSKS
  • Tissue
  • Tissue, unspecified
  • WB
  • Weill-Marchesani syndrome
  • Whole blood
  • Whole blood or Tissue
  • WMS

1 further terms