66876-4

LOINC 2.82

FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method

FMR1 premutation NFr Bld

Definition

  • Percent premutation = premutation/(premutation+full mutation) band intensities

Component

  • FMR1 gene premutation/premutation+full mutation

Specimen / system

  • Bld

Class

  • MOLPATH.MUT

Property

  • NFr

Scale

  • Qn

Method

  • Molgen

Related names

  • Blood; FMR1 premutation; FMRP; Fragile X; Fragile X mental retardation 1; Fragile X syndrome; FRAXA; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Number fraction; PCR; Percent; POF; POF1; Point in time; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood

Index terms

  • Blood
  • FMR1 premutation
  • FMRP
  • Fragile X
  • Fragile X mental retardation 1
  • Fragile X syndrome
  • FRAXA
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mutations
  • Number fraction
  • PCR
  • Percent
  • POF
  • POF1
  • Point in time
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • WB
  • Whole blood