38536-9
MLH1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34683-0 MLH1 gene
The MLH1 gene (mutL homolog 1) [HGNC Gene ID:7127] is located on chromosome 3p21.3. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4292]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MLH1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- MLH1 gene Mut Anl Bld/T
- Display Name
- MLH1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MLH1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 15189
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación del gen MSH2+MLH1: |
| es-ES | Spanish (Spain) | Gen MLH1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MLH1: |
| fr-FR | French (France) | MLH1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MLH1, gene analisi di mutazione mirata: Synonyms: Gene MLH1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | MLH1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | MLH1-gen doelgerichte mutatie-analyse: Synonyms: MLH1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | MLH1 análise de mutação genética: Synonyms: MutL homolog 1, colon cancer, nonpolyposis type 2; |
| ru-RU | Russian (Russian Federation) | MLH1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | MLH1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MLH1 基因 突变分析: Synonyms: COCA2; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=38536-9
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