HBA2 gene.c.427T C:PrThr:Pt:Bld:Ord:Molgen

Preferred Label : HBA2 gene.c.427T C:PrThr:Pt:Bld:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : HBA2 gene c.427T C Molgen Ql (Bld);

LOINC long common name : HBA2 gene c.427T C [Presence] in Blood by Molecular genetics method;

LOINC short name : HBA2 c.427T C Bld Ql;

LOINC description : This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624];

Details

Origin ID

55237-2;

UMLS CUI

C2708462;

Has component
- Gene [LOINC component]
- HBA2 gene [LOINC component]
- HBA2 gene c.427T>C [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Threshold [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Blood [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Part of panel
- Alpha thalassemia gene panel:-:Pt:Bld:-:Molgen [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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