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Term Description

Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR gene: MMACHC]

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP417406-8   MMACHC gene
The MMACHC gene (metabolism of cobalamin associated C) [HGNC Gene ID:24525] is located on chromosome 1p34.1. The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] [NCBI Gene ID:25974] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
MMACHC gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
MMACHC gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
MMACHC Full Mut Anl Bld/T Seq
Display Name
MMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MMACHC gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    MMACHC gene full mutation analysis
    LP417407-6
    • Analyte
      MMACHC gene full mutation analysis
      LP417407-6
      • Component Numerator
        MMACHC gene full mutation analysis
        LP417407-6
        • Component Numerator Core
          MMACHC gene
          LP417406-8
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • 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
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Sequencing
    LP150045-5

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MMACHC kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο MMACHC πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο MMACHC Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen MMACHC Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen MMACHC:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)MMACHC gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)MMACHC, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)MMACHC-gen MMADHC-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
pl-PLPolish (Poland)MMACHC gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen MMACHC
zh-CNChinese (China)MMACHC 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: Metabolism Of Cobalamin Associated C gene;高同型半胱氨酸血症C型基因;钴胺素代谢相关缺陷C型基因 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94206-0