97654-8

LOINC 2.82

SMN2 gene copy number in Blood or Tissue by Molecular genetics method

SMN2 copy num EntNum Bld/T

Definition

  • The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease.[PMID: 21673580]

Component

  • SMN2 gene copy number

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • EntNum

Scale

  • Qn

Method

  • Molgen

Related names

  • BCD541; Blood; C-BCD541; Entitic; Entitic number; GEMIN1; Gemin-1; Molecular genetics; Molecular pathology; MOLPATH; No; Num; PCR; Point in time; QNT; Quan; Quant; Quantitative; Random; SMN; SMN2 copy num; SMNC; SMNT; survival of motor neuron 2, centromeric; TDRD16B; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • BCD541
  • Blood
  • C-BCD541
  • Entitic
  • Entitic number
  • Gemin-1
  • GEMIN1
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • No
  • Num
  • PCR
  • Point in time
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • SMN
  • SMN2 copy num
  • SMNC
  • SMNT
  • survival of motor neuron 2, centromeric
  • TDRD16B
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue