49708-1
TTR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP33158-4 TTR gene
Detects sequence variations in the Transthyretin gene used in detection of Familial Amyloid Cardiomyopathy and Familial Amyloid Polyneuropathy.
Source: Regenstrief Institute
LP33158-4 TTR gene
The TTR gene (transthyretin) [HGNC Gene ID:12405] is located on chromosome 18q12.1. This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009] [NCBI Gene ID:7276]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TTR gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- TTR gene Mut Anl Bld/T
- Display Name
- TTR gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- TTR gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.22
- 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 TTR Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen TTR: |
| fr-FR | French (France) | TTR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | TTR, gene analisi di mutazione mirata: Synonyms: Gene TTR Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | TTR-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted TTR gen |
| pt-BR | Portuguese (Brazil) | TTR análise de mutação genética: Synonyms: PALB; |
| ru-RU | Russian (Russian Federation) | TTR ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | TTR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | TTR 基因 突变分析: Synonyms: PALB; |
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=49708-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright