34193-3LOINC 2.82
SMPD1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
SMPD1 gene Mut Tested Bld/T
Component
- SMPD1 gene mutations tested for
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- ASM; ASM gene deficiency; ASMASE; Blood; Gene mut tested; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Tested; Mutation; Muts; Niemann-Pick A and B disease gene; Niemann-Pick Disease Type A; Niemann-Pick Disease Type B; Nieman-Pick Disease Type A; Nominal; 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
- Gene mut tested
- Genetics
- Heredity
- Heritable
- Identity or presence
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Tested
- Mutation
- Muts
- Nieman-Pick Disease Type A
- Niemann-Pick A and B disease gene
- Niemann-Pick Disease Type A
- Niemann-Pick Disease Type B
- Nominal
- NPD
- NPDA
- NPDB
- PCR
- Point in time
- Random
- sphingomyelin phosphodiesterase 1, acid lysosomal
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue