Version 2.78

Term Description

Full gene sequence analysis, including all coding regions and intron/exon boundaries, of the TTR gene for the diagnosis of transthyretin-associated familial amyloidosis, the most common hereditary amyloidosis.
Source: Regenstrief LOINC

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

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 full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Short Name
TTR gene Full Mut Anl Bld/T Seq
Display Name
TTR gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
TTR gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen TTR Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen TTR:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) TTR gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) TTR, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene TTR Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TTR-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: TTR gen
tr-TR Turkish (Turkey) TTR geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) TTR 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: PALB;TBPA;前白蛋白基因;甲状腺素运载蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;甲状腺素运载蛋白基因;转甲状腺素蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;转甲状腺素蛋白（一种主要由肝脏和脉络丛产生的分子质量约为55 kD的四聚体血浆蛋白）;转甲状腺素蛋白基因;转甲状腺蛋白基因;转甲蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;转甲蛋白基因 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94225-0