SDHB gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : SDHB gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : SDHB gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : SDHB gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : SDHB gene Del Dup Full Mut Anl Bld/T;

LOINC description : Full sequencing analysis of all 8 coding exons and intron/exon boundaries of the SDHB gene is performed along with large deletion/duplication analysis.[OMIM: 185470][NCBI Gene ID: 6390] This test is performed to aid in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic SDHB gene variants.;

Details

Origin ID

82530-7;

UMLS CUI

C4285598;

Has component
- Gene [LOINC component]
- SDHB gene [LOINC component]
- SDHB gene deletion+duplication & full mutation analysis [LOINC component]
Has method
- Molecular genetics [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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