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Term Description

The detection of chromosome 21 aneuploidy in amniotic fluid based on fluorescence in situ hybridization (FISH) analysis.

Part Descriptions

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

LP99576-8   Chromosome 21 aneuploidy
Chromosome 21 aneuploidy is a chromosome abnormality involving missing or extra chromosomes at chromosome 21. Source: Regenstrief Institute

LOINC Names Get Info

Fully-Specified Name
Chromosome 21 aneuploidy:PrThr:Pt:Amnio fld/CVS:Ord:FISH
Long Common Name
Chromosome 21 aneuploidy [Presence] in Amniotic fluid or Chorionic villus sample by FISH
Short Name
Chr 21 aneup Amn/CVS Ql FISH
Display Name
Chr 21 aneuploidy FISH Ql (Amnio fld/CVS)
Consumer Name Alpha Get Info
Chromosome 21 aneuploidy, Amnio Fld/CVS

Part Model Get Info

  • Component
    Chromosome 21 aneuploidy
    LP99576-8
    • Analyte
      Chromosome 21 aneuploidy
      LP99576-8
      • Component Numerator
        Chromosome 21 aneuploidy
        LP99576-8
        • Component Numerator Core
          Chromosome 21 aneuploidy
          LP99576-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Amnio fld/CVS
    LP185743-4
    • System Core
      Amnio fld/CVS
      LP185743-4
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    FISH
    LP62864-1

Example Answer List: LL2872-1

Source: Laboratory Corporation of America
AnswerCodeScoreAnswer ID
Not detectedLA11883-8
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value)LA9633-4

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.66 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)الكشف عن اختلال الصيغة الصبغية للكروموسوم 21 في عينة من السائل الأمنيوسي أو الزغابات المشيمية ( بتقنية التهجين الفلوري )
cs-CZCzech (Czechia)Chromozom 21 aneuploidie:Přítomnost nebo práh:Časový bod:Amniová tekutina/choriový klk:Ordinální:Fluorescenční in situ hybridizace (FISH)
el-GRGreek (Greece)Ανευπλοειδία χρωμοσώματος 21:PrThr:Pt:Αμνιακό υγρό/ΕΝΥ:Ord:Φθορίζουσα υβριδοποίηση in situ
Synonyms: MOLPATH Ord PrThr Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Ανευπλοειδία χρωμοσώματος 21 Βιοψία χοριακής λάχνης Φθορίζουσα υβριδοποίηση in situ Χρωμόσωμα
es-ESSpanish (Spain)aneuploidía cromosoma 21:PrThr:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Ord:Hibridación in situ fluoresente (FISH)
es-MXSpanish (Mexico)Aneuploidía del cromosoma 21:Presencia o umbral:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Ordinal:Hibridación fluorescente in situ (FISH)
fr-FRFrench (France)Chromosome 21 aneuploïdie:Présence/Seuil:Ponctuel:Liquide amniotique/Villosités choriales:Qualitatif:FISH
it-ITItalian (Italy)Cromosoma 21, aneuploidia:PrThr:Pt:Liquido amniotico/Villi coriali, prelievo:Ord:FISH
Synonyms: Aneuploidia del cromosoma 21 Campione di villi coriali Ibridazione in situ fluorescente (FISH) Liquido amniotico Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Presenza o Soglia Punto nel tempo (episodio)
pl-PLPolish (Poland)Aneuploidia chromosomu 21:granica wykrywalności:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:uporządkowany:FISH
Synonyms: fluorescencyjna hybrydyzacja in situ
zh-CNChinese (China)染色体 21 非整倍体性:存在情况或阈值:时间点:羊水/绒毛膜绒毛样本:序数型:FISH
Synonyms: 21号染色体非整倍体型;21号染色体非整倍性;染色体 21 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性） Fluorescent in situ hybridization;荧光原位杂交 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=84919-0