58010-0
MSH2 gene+MLH1 gene+MSH6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP97953-1 MSH2 gene+MLH1 gene+MSH6 gene
Mutations in the MLH1, MSH2, MSH6, and PMS2 genes, which are involved in DNA mismatch repair, are associated with hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC). Patients with HNPCC also have an increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. HNPCC is most often associated with mutations in the MLH1 and MSH2 genes. PMID: 19360696
Source: Regenstrief LOINC, PMID:19360696
Fully-Specified Name
- Component
- MSH2 gene+MLH1 gene+MSH6 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- MSH2+MLH1+MSH6 gene Mut Anl Bld/T
- Display Name
- MSH2 gene+MLH1 gene+MSH6 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MSH2 gene+MLH1 gene+MSH6 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.29
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 6611
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen MSH2+gen MLH1+ gen MSH6 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen MSH2 + gen MLH1 + gen MSH6: |
fr-FR | French (France) | MSH2+MLH1+MSH6 gènes mutation cible trouvée: |
it-IT | Italian (Italy) | MSH2, gene+gene MLH1+gene MSH6 analisi di mutazione mirata: Synonyms: Gene MLH1 Gene MSH2 Gene MSH2+gene MLH1+gene MSH6 Gene MSH2+gene MSH1 Gene MSH6 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MSH2-gen + MLH1-gen + MSH6-gen doelgerichte mutatie-analyse: Synonyms: MLH1 gen molgen MSH2 gen MSH2 gen+MLH1 gen MSH2 gen+MLH1 gen+MSH6 gen MSH6 gen targeted |
pt-BR | Portuguese (Brazil) | MSH2 gene+MLH1 gene+MSH6 análise de mutação do gene: Synonyms: GTBP; |
ru-RU | Russian (Russian Federation) | MSH2 ген+MLH1 ген+MSH6 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | MSH2 geni+MLH1 geni+MSH6 geni Mutasyon analizi: |
zh-CN | Chinese (China) | MSH2 基因+MLH1 基因+MSH6 基因 突变分析: Synonyms: BAT-26; |
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=58010-0
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright