41053-0LOINC 2.82
SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
SMN1 gene Mut Anl Bld/T
Component
- SMN1 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- BCD541; Blood; Gemin 1; GEMIN1; Genetics; Heredity; Heritable; Identity or presence; Inherited; Kugelberg-Welander disease; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; SMV; spinal muscular atrophy; Survival motor neuron protein gene; survival of motor neuron 1, telomeric; T-BCD541; TDRD16A; Tissue; Tissue, unspecified; UniversalLabOrders; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue
Index terms
- BCD541
- Blood
- Gemin 1
- GEMIN1
- Genetics
- Heredity
- Heritable
- Identity or presence
- Inherited
- Kugelberg-Welander disease
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Point in time
- Random
- SMA
- SMA gene
- SMA1
- SMA2
- SMA3
- SMA4
- SMA@
- SMN
- SMN1 gene targeted mutation analysis
- SMNT
- SMV
- spinal muscular atrophy
- Survival motor neuron protein gene
- survival of motor neuron 1, telomeric
- T-BCD541
- TDRD16A
- Tissue
- Tissue, unspecified
- UniversalLabOrders
4 further terms