RAF1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : RAF1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : RAF1 gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : RAF1 gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : RAF1 Full Mut Anl Bld/T Seq;

LOINC description : Full sequencing analysis of all 17 coding exons and intron/exon boundaries of the RAF1 gene is performed to aid in the diagnosis of RAF1-associated Noonan syndrome, LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome, and clinically related disorders.[GHR gene: RAF1];

Details

Origin ID

82537-2;

UMLS CUI

C4298637;

Has component
- Gene [LOINC component]
- RAF1 gene [LOINC component]
- RAF1 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) :

You can consult :

recommendations
documents concerning education
documents for patients