38913-0
TBX5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34977-6 TBX5 gene
The TBX5 gene (T-box 5) [HGNC Gene ID:11604] is located on chromosome 12q24.1. This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6910]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TBX5 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- TBX5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- TBX5 gene Mut Anl Bld/T
- Display Name
- TBX5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- TBX5 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.66
- 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 |
|---|---|---|
| es-ES | Spanish (Spain) | Gen TBX5 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen TBX5: |
| fr-FR | French (France) | TBX5 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | TBX5, gene analisi di mutazione mirata: Synonyms: Gene TBX5 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | TBX5 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | TBX5-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted TBX5 gen |
| pt-BR | Portuguese (Brazil) | TBX5 análise de mutação genética: Synonyms: HOS; |
| ru-RU | Russian (Russian Federation) | TBX5 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | TBX5 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | TBX5 基因 突变分析: Synonyms: Hand-heart syndrome; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=38913-0
LOINC Copyright
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