34518-1

LOINC 2.82

SMPD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

SMPD1 gene Mut Anl Bld/T

Component

  • SMPD1 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • ASM; ASM gene deficiency; ASMASE; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Niemann-Pick A and B disease gene; Niemann-Pick Disease Type A; Niemann-Pick Disease Type B; Nieman-Pick Disease Type A; NPD; NPDA; NPDB; PCR; Point in time; Random; sphingomyelin phosphodiesterase 1, acid lysosomal; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • ASM
  • ASM gene deficiency
  • ASMASE
  • Blood
  • Document
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • Nieman-Pick Disease Type A
  • Niemann-Pick A and B disease gene
  • Niemann-Pick Disease Type A
  • Niemann-Pick Disease Type B
  • NPD
  • NPDA
  • NPDB
  • PCR
  • Point in time
  • Random
  • sphingomyelin phosphodiesterase 1, acid lysosomal
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue