53871-0
HRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP19728-2 HRAS gene
The HRAS gene (Harvey rat sarcoma viral oncogene homolog) [HGNC Gene ID:5173] is located on chromosome 11p15.5. This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3265]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- HRAS gene targeted mutation analysis:
Find: Pt: Bld/Tiss: Doc: Molgen - Long Common Name
- HRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- HRAS gene Mut Anl Bld/T
- Display Name
- HRAS gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- HRAS gene targeted mutation analysis, Blood or tissue specimen
Part Model Get Info
- Component
- HRAS gene targeted mutation analysis
LP228677-3
- Analyte
- HRAS gene targeted mutation analysis
LP228677-3
- Component Numerator
- HRAS gene targeted mutation analysis
LP228677-3
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- 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
- Doc
LP32888-7
- Method
- Molgen
LP6404-0
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.66 (MAJ)
- 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 |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen HRAS cílená mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο HRAS στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HRAS Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen HRAS Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen HRAS: |
| fr-FR | French (France) | HRAS gène mutation cible trouvée: |
| it-IT | Italian (Italy) | HRAS, gene analisi di mutazione mirata: Synonyms: Gene HRAS Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | HRAS-gen doelgerichte mutatie-analyse: Synonyms: HRAS gen molgen targeted |
| pl-PL | Polish (Poland) | HRAS gen ukierunkowana analiza mutacji: Synonyms: Analiza mutacji genu HRAS diagnostyka molekularna Gen HRAS |
| pt-BR | Portuguese (Brazil) | HRAS análise de mutação genética: Synonyms: HRAS1; |
| ru-RU | Russian (Russian Federation) | HRAS ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | HRAS geni Mutasyon analizi: |
| zh-CN | Chinese (China) | HRAS 基因 突变分析: Synonyms: Harvey 大鼠肉瘤病毒原癌基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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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://