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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full sequencing analysis of the three coding exons and intron/exon boundaries of the VHL gene.[OMIM: 608537][NCBI Gene ID: 7428] This test is performed for patients with suspected hereditary erythrocytosis, or familial erythrocytosis, type 2 (ECYT2)[OMIM: 263400], associated with lifelong increased RBC mass, elevated RBC count, hemoglobin, and hematocrit. Mutations in the VHL gene that cause ECYT2 are inherited in an autosomal recessive fashion and associated with normal to increased serum erythropoietin (EPO) levels. For genetic testing for von Hippel-Lindau (VHL) disease, see VHL gene deletion duplication & full mutation analysis [LOINC: 82533-1].;

Details

Origin ID

82528-1;

UMLS CUI

C4298820;

Has component
- Gene [LOINC component]
- VHL gene [LOINC component]
- VHL 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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