Version 2.80

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

LP94848-6   PDGFRA gene
The PDGFRA gene (platelet-derived growth factor receptor, alpha polypeptide) [HGNC Gene ID:8803] is located on chromosome 4q12. Over 400 unique mutations have been found in the PDGFRA gene.[COSMIC: PDGFRA] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] [NCBI Gene ID:5156] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PDGFRA gene full mutation analysis
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Sequencing

Additional Names

Long Common Name
PDGFRA gene full mutation analysis [Presence] in Blood or Tissue by Sequencing
Short Name
PDGFRA Full Mut Anl Bld/T Ql Seq
Display Name
PDGFRA gene full mutation analysis Sequencing Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PDGFRA gene variant analysis, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.79
Last Updated
Version 2.79 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PDGFRA πλήρης ανάλυση μεταλλάξεων:PrThr:Pt:Αίμα/Ιστός:Ord:Αλληλούχιση
Synonyms: PrThr
it-IT Italian (Italy) PDGFRA, gene Analisi di mutazione completa:PrThr:Pt:Sangue/Tess:Ord:Sequenziamento
Synonyms: Gene PDGFRA Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PDGFRA-gen volledige mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:sequencing
zh-CN Chinese (China) PDGFRA 基因 全面突变分析:存在情况或阈值:时间点:全血/组织:序数型:序列测定
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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=107256-0