60540-2
HBA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP94324-8 HBA2 gene
The HBA1 gene (hemoglobin, alpha 1) [HGNC Gene ID:4823] is located on chromosome 16p13.3. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3039]
Source: National Center for Biotechnology Information (NCBI) Gene
LP94324-8 HBA2 gene
The HBA2 gene (hemoglobin, alpha 2) [HGNC Gene ID:4824] is located on chromosome 16p13.3. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3040]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- HBA2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- HBA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- HBA2 gene Mut Anl Bld/T
- Display Name
- HBA2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- HBA2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: HBA2-Gen Mutationsanalyse |
el-GR | Greek (Greece) | Γονίδιο HBA2 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο HBA2 Εύρεση |
es-ES | Spanish (Spain) | Gen HBA2 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen HBA2: |
fr-FR | French (France) | HBA2 gène mutation cible trouvée: |
it-IT | Italian (Italy) | HBA2, gene analisi di mutazione mirata: Synonyms: Gene HBA2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | HBA2-gen doelgerichte mutatie-analyse: Synonyms: HBA2 gen molgen targeted |
pt-BR | Portuguese (Brazil) | HBA2 análise de mutação do gene: |
ru-RU | Russian (Russian Federation) | HBA2 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni Mutasyon analizi: |
zh-CN | Chinese (China) | HBA2 基因 突变分析: Synonyms: HBA1; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=60540-2
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