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

LP95534-1   MPL gene
The MPL gene (MPL proto-oncogene, thrombopoietin receptor) [HGNC Gene ID:7217] is located on chromosome 1p34. In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4352] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MPL gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Sequencing

Additional Names

Long Common Name
MPL gene mutations tested for in Blood or Tissue by Sequencing Nominal
Short Name
MPL gene Mut Tested Bld/T Seq
Display Name
MPL gene mutations tested for Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MPL gene variants tested for, 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.MUT
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 MPL εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση
Synonyms: Prid
es-ES Spanish (Spain) Gen MPL Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
it-IT Italian (Italy) MPL, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Gene MPL Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL Dutch (Netherlands) MPL-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:sequencing
Synonyms: MPL gen
tr-TR Turkish (Turkey) MPL geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) MPL 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:序列测定
Synonyms: C-MPL;CD110;MPLV;TPOR;OTTHUMP00000008582;thrombopoietin receptor;myeloproliferative leukemia virus oncogene;血小板生成素受体;促血小板生成素受体;骨髓增殖白血病病毒癌基因 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 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 突变 突变类;基因突变 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=107255-2