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Term Description

Chromosome analysis by microarray can detect aneuploidy, triploidy, deletions/duplication, uniparental disomy (UPD), and other structural variations. Single nucleotide polymorphisms (SNP)-based analysis is used to detect high resolution copy numbers across the genome to detect allelic imbalance information.

Part Description

LP111376-2   Chromosome analysis
Genetic disorders in humans are often a result of unbalanced chromosome abnormalities with net gain or loss of genetic material. Early technologies for chromosome analysis involved examining the banding patterns to assess chromosome deletion and/or duplication, known as a karyotype. Karotyping does not reveal microdeletions. Newer technologies have emerged including microarray, which includes both array comparative genomic hybridization (arrCGH) and SNP-based microarray, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Microarray can detect aneuploidies, deletions, duplications, and amplifications of any locus within the array. It can identify genetic aberrations that include trisomy 13, trisomy 18 and trisomy 21. http://www.nature.com/scitable/topicpage/microarray-based-comparative-genomic-hybridization-acgh-45432 FISH is able to demonstrate duplications, deletions, translocations and amplifications of DNA. It is able to assess multiple genetic anomalies using different fluorescent dyes and multiple probes. Among other uses, FISH can detect HER-2/neu to determine if a patient would benefit from treatment with Herceptin and identify BCR-ABL in a patient with chronic myelogenous leukemia to determine if imatinib would be an effective treatment.( https://labtestsonline.org/understanding/features/methods/start/4/) PCR is an analysis that exponentially amplifies certain parts of DNA which makes that DNA recognizable and quantifiable. PCR is used to assist in gene sequencing, identifying and quantifying pathogens and in forensic studies. (http://www.yourgenome.org/facts/what-is-pcr-polymerase-chain-reaction) Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Chromosome analysis:Find:Pt:POC:Doc:Microarray
Long Common Name
Chromosome analysis in Products of Conception by Microarray
Short Name
Chrom analy POC Microarray
Display Name
Chr analysis Microarray Doc (Products of Conception)
Consumer Name Alpha Get Info
Chromosome analysis, Products of Conception

Part Model Get Info

  • Component
    Chromosome analysis
    LP111376-2
    • Analyte
      Chromosome analysis
      LP111376-2
      • Component Numerator
        Chromosome analysis
        LP111376-2
        • Component Numerator Core
          Chromosome analysis
          LP111376-2
        • Component Numerator Core Suffix
          NULL
           
      • 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
    POC
    LP111378-8
  • Scale
    Doc
    LP32888-7
  • Method
    Microarray
    LP250859-8

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozomální analýza:Nález:Časový bod:Produkty početí (POC):Dokument:Microarray
el-GRGreek (Greece)Ανάλυση χρωμοσωμάτων:Εύρεση:Pt:POC:Doc:Μικροσυστοιχία
Synonyms: Doc MOLPATH POC Pt Ανάλυση χρωμοσωμάτων Εύρεση Μικροσυστοιχία Χρωμόσωμα
es-ESSpanish (Spain)analisis del cromosoma:Hallazgo:Punto temporal:POC:Doc:Micromatriz
es-MXSpanish (Mexico)Análisis de cromosomas:Encontrar:Punto temporal:POC:Documento:Microarray
fr-FRFrench (France)Analyse chromosome:Recherche:Ponctuel:Produit de conception:Document:Microarray
it-ITItalian (Italy)Analisi cromosomica:Osservazione:Pt:Prodotti del concepimento:Doc:Microarray
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio)
pl-PLPolish (Poland)Badanie chromosomów:stwierdzenie:punkt w czasie:produkty zapłodnienia:dokument:mikromacierz
Synonyms: Kariotypowanie
zh-CNChinese (China)染色体分析:发现:时间点:怀孕产物:文档型:微阵列
Synonyms: Products of Conception;POC;受孕产物;妊娠产物;胚胎;概念产品;概念制品 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 微矩阵;微阵列芯片;微阵列基因芯片 时刻;随机;随意;瞬间 染色体二体型+染色体三体型

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=96984-0