NIPA1 gene & REEP1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : NIPA1 gene & REEP1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : NIPA1 and REEP1 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : NIPA1 REEP1 Full Mut Anl Bld/T Seq;

LOINC description : Mutation analysis of the REEP1 (SPG31) and NIPA1 genes is performed in patients with an autosomal dominant inheritance pattern of a hereditary spastic paraplegia (HSP), especially if no mutation is found in the SPAST (SPG4) or ALT1 (SPG3A) genes. The submitter's lab performs mutation analysis of exons 1-7 and flanking intronic regions of the REEP1 gene and exons 2-5 and flanking intronic regions of the NIPA1 gene by sequencing methods.;

Détails

Origin ID

81884-9;

UMLS CUI

C4265001;

Has component
- Gene [LOINC component]
- NIPA1 and REEP1 gene [LOINC component]
- NIPA1 gene [LOINC component]
- NIPA1 gene & REEP1 gene full mutation analysis [LOINC component]
- REEP1 gene [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]

Position du mot-clé dans l'(les) arborescence(s) :

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