38906-4
MSH6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34973-5 MSH6 gene
The MSH6 gene (mutS homolog 6) [HGNC Gene ID:7329] is located on chromosome 2p16. This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] [NCBI Gene ID:2956]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MSH6 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- MSH6 gene Mut Anl Bld/T
- Display Name
- MSH6 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MSH6 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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
- 14586
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen MSH6 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MSH6: |
| fr-FR | French (France) | MSH6 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MSH6, gene analisi di mutazione mirata: Synonyms: Gene MSH6 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | MSH6 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | MSH6-gen doelgerichte mutatie-analyse: Synonyms: molgen MSH6 gen targeted |
| pt-BR | Portuguese (Brazil) | MSH6 análise de mutação genética: Synonyms: GTBP; |
| ru-RU | Russian (Russian Federation) | MSH6 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | MSH6 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MSH6 基因 突变分析: Synonyms: G/T 错配-结合蛋白（G/T mismatch-binding protein， |
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=38906-4
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