SMN1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : SMN1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : SMN1 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : SMN1 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : SMN1 gene Full Mut Anl Bld/T Seq;

LOINC description : Full gene sequencing of the SMN1 gene, including all protein-coding regions and intron/exon boundaries of the gene. Testing is performed to confirm a diagnosis of spinal muscular atrophy (SMA) due to variants in SMN1 gene. This test is also used for at-risk family members who have a family history of spinal muscular atrophy but an affected individual is not available for testing, or when disease-causing mutations are unknown.;

Details

Origin ID

94221-9;

UMLS CUI

C5381145;

Has component
- Gene [LOINC component]
- SMN1 gene [LOINC component]
- SMN1 gene full mutation analysis [LOINC component]
Has method
- Sequencing [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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