107255-2
MPL gene mutations tested for in Blood or Tissue by Sequencing Nominal
Active
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
LOINC Names Get Info
- Fully-Specified Name
- MPL gene mutations tested for:
Prid: Pt: Bld/Tiss: Nom: Sequencing - 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
Part Model Get Info
- Component
- MPL gene mutations tested for
LP229030-4
- Analyte
- MPL gene mutations tested for
LP229030-4
- Component Numerator
- MPL gene mutations tested for
LP229030-4
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Prid
LP6850-4
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Nom
LP7750-5
- Method
- Sequencing
LP150045-5
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 |
|---|---|---|
| ar-JO | Arabic (Jordan) | الكشف عن طفرات جين "MPL" ابيضاض الدم التكاثري النخاعي في الدم أو الأنسجة ( بتقنية التسلسل الإسمي ) |
| el-GR | Greek (Greece) | Γονίδιο MPL εξετασθείσες μεταλλάξεις: Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο MPL εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις |
| es-ES | Spanish (Spain) | Gen MPL Análisis de mutaciones para...: |
| fr-FR | French (France) | MPL gène mutations recherchées: |
| it-IT | Italian (Italy) | MPL, gene, mutazioni testate per: Synonyms: Gene MPL Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | MPL-gen geteste mutaties: Synonyms: MPL gen |
| pl-PL | Polish (Poland) | MPL gen badanie w kierunku mutacji: Synonyms: Gen MPL wynik kategorialny |
| tr-TR | Turkish (Turkey) | MPL geni mutasyonlar, test edilen: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | MPL 基因 已测试的突变: Synonyms: C-MPL; |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://