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

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

LOINC status : ACTIVE;

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

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

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

LOINC description : Full sequencing analysis of all 6 coding exons and intron/exon boundaries of the CASR gene is performed to establish a diagnosis of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism.[NCBI Gene ID: 846] This test is also performed as part of a workup for primary hyperparathyroidism, idiopathic hypoparathyroidism, and Bartter syndrome.[OMIM: 601199];

Details

Origin ID

82534-9;

UMLS CUI

C4298640;

Has component
- CASR gene [LOINC component]
- CASR gene full mutation analysis [LOINC component]
- 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]

Keyword's position in hierarchy(ies) :

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