49857-6

LOINC 2.82

SMN1 gene+SMN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

SMN1+SMN2 gene Mut Anl Bld/T

Component

  • SMN1 gene+SMN2 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • BCD541; Blood; C-BCD541; Document; Finding; Findings; Gemin 1; GEMIN1; Gemin-1; Genetics; Heredity; Heritable; Inherited; Kugelberg-Welander disease; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMN1+SMN2 gene; SMNC; SMNT; SMV; spinal muscular atrophy; Survival motor neuron protein gene; survival of motor neuron 1, telomeric; survival of motor neuron 2, centromeric; T-BCD541; TDRD16A; TDRD16B; Tissue; Tissue, unspecified; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue

Index terms

  • BCD541
  • Blood
  • C-BCD541
  • Document
  • Finding
  • Findings
  • Gemin 1
  • Gemin-1
  • GEMIN1
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Kugelberg-Welander disease
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • Point in time
  • Random
  • SMA
  • SMA gene
  • SMA1
  • SMA2
  • SMA3
  • SMA4
  • SMA@
  • SMN
  • SMN1+SMN2 gene
  • SMNC
  • SMNT
  • SMV
  • spinal muscular atrophy
  • Survival motor neuron protein gene
  • survival of motor neuron 1, telomeric
  • survival of motor neuron 2, centromeric

9 further terms