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Term Description

This term is used for the order & overall report for chromosome analysis by sequencing methods, such as mate pair sequencing, for the detection of germline (congenital) chromosome abnormalities in amniotic fluid or chorionic villus sampling (CVS) specimens. Results may include the overall findings, the result in ISCN format, testing methods, interpretation, recommendations, and references. Testing is performed when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Results provide diagnostic, prognostic, and therapeutic information for patient care.

Part Descriptions

LP417552-9   Mate pair sequencing
Mate pair sequencing is a next generation, whole genome sequencing test that may be performed in conjunction with or when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Mate pair sequencing is used to determine the size, precise breakpoints, genes involved, and any other attribute of the abnormality that is not detectable by other methods. Large DNA fragments (2-5Kb) are sequenced by paired-end sequencing through the use of a modified library preparation. The longer fragments facilitate identifying breakpoint junction locations with lower base coverage. Results provide diagnostic, prognostic, and therapeutic information for patient care. PMID: 29726617 PMID: 24105367 Source: Regenstrief LOINC

LP417552-9   Mate pair sequencing
Mate pair sequencing is a next generation, whole genome sequencing test that may be performed in conjunction with or when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Mate pair sequencing is used to determine the size, precise breakpoints, genes involved, and any other attribute of the abnormality that is not detectable by other methods. Large DNA fragments (2-5Kb) are sequenced by paired-end sequencing through the use of a modified library preparation. The longer fragments facilitate identifying breakpoint junction locations with lower base coverage. Results provide diagnostic, prognostic, and therapeutic information for patient care. PMID: 29726617 PMID: 24105367 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Germline disorder chromosome analysis:Find:Pt:Amnio fld/CVS:Doc:Mate pair sequencing
Long Common Name
Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing
Short Name
Germline chromo analy Amn/CVS MPSeq
Display Name
Germline disorder chromosome analysis Mate pair sequencing Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
Germline disorder chromosome analysis, Amnio Fld/CVS

Part Model Get Info

  • Component
    Germline disorder chromosome analysis
    LP417643-6
    • Analyte
      Germline disorder chromosome analysis
      LP417643-6
      • Component Numerator
        Germline disorder chromosome analysis
        LP417643-6
        • Component Numerator Core
          Germline disorder chromosome analysis
          LP417643-6
        • 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
    Amnio fld/CVS
    LP185743-4
    • System Core
      Amnio fld/CVS
      LP185743-4
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Mate pair sequencing
    LP417552-9

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)Porucha zárodečné linie chromozomální analýza:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Mate pair sequencing
el-GRGreek (Greece)Ανάλυση χρωμοσωμάτων διαταραχής γαμετικών κυττάρων:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Αλληλούχηση ζεύγους συντρόφου
Synonyms: Doc MOLPATH Pt Αλληλούχηση ζεύγους συντρόφου Αλληλούχιση Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Ανάλυση χρωμοσωμάτων Ανάλυση χρωμοσωμάτων διαταραχής γαμετικών κυττάρων Βιοψία χοριακής λάχνης Εύρεση Χρωμόσωμα
es-ESSpanish (Spain)Análisis cromosómico del trastorno de la línea germinal:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Secuenciación de pares de parejas
es-MXSpanish (Mexico)Análisis cromosómico del trastorno de la línea germinal:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Secuenciación de pares de compañeros
fr-FRFrench (France)Chromosome analyse trouble germinal:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Séquençage de paire de base
it-ITItalian (Italy)Disturbo della linea germinale, analisi cromosomica:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Mate pair, sequenziamento
Synonyms: Analisi cromosomica disturbo della linea germinale Campione di villi coriali Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
zh-CNChinese (China)胚系疾病染色体分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:末端配对序列测定法
Synonyms: 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 序列分析;测序 时刻;随机;随意;瞬间 末端配对测序法;MP;双端测序;双端配对测序 染色体二体型+染色体三体型 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 胚系（种系、生殖细胞系、生殖系）疾病（疾患、障碍）染色体分析

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94587-3