76068-6
MBL2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP184366-5 MBL2 gene
Mutations of the MBL2 gene can lead to mannose-binding lectin deficiency. With decreased levels of mannose-binding lectin, patients are susceptible to recurrent infections. However, researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency.
Source: Genetic Home Reference, National Library of Medicine
, MBL2 gene
LP184366-5 MBL2 gene
The MBL2 gene (mannose-binding lectin (protein C) 2, soluble) [HGNC Gene ID:6922] is located on chromosome 10q11.2. This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4153]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MBL2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- MBL2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- MBL2 Mut Anl Bld/T
- Display Name
- MBL2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MBL2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.50
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο MBL2 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο MBL2 Εύρεση |
| es-ES | Spanish (Spain) | Gen MBL2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MBL2: |
| fr-FR | French (France) | MBL2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MBL2, gene analisi di mutazione mirata: Synonyms: Gene MBL2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | MBL2-gen doelgerichte mutatie-analyse: Synonyms: MBL2 gen molgen targeted |
| tr-TR | Turkish (Turkey) | MBL2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MBL2 基因 突变分析: Synonyms: 临床文档型; |
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=76068-6
LOINC Copyright
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