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Term Description

The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having a 22q11.2 deletion based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy as well as the 22q11.2 deletion.

Part Description

LP185776-4   Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

LOINC Names Get Info

Fully-Specified Name
Fetal 22q11.2 deletion risk:Imp:Pt:Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA
Long Common Name
Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
Short Name
Fet 22q11.2 del risk Plas.cfDNA Ql
Display Name
22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal 22q11.2 deletion risk

Part Model Get Info

  • Component
    Fetal 22q11.2 deletion risk
    LP185776-4
    • Analyte
      Fetal 22q11.2 deletion risk
      LP185776-4
      • Component Numerator
        Fetal 22q11.2 deletion risk
        LP185776-4
        • Component Numerator Core
          Fetal 22q11.2 deletion risk
          LP185776-4
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Ord
    LP7751-3
  • Method
    Dosage of chromosome specific cf DNA
    LP172871-8

Example Answer List: LL4771-3

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
High probabilityLA28478-8
Low probabilityLA28479-6

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.66 (NAM)
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
73967-2Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Oblast 22q11.2 delece riziko u plodu:Interpretace:Časový bod:DNA volná cirkulující (cfDNA):Ordinální:Dávkování chromozomálně specifické cfDNA
el-GRGreek (Greece)Κίνδυνος διαγραφής εμβρυϊκού 22q11.2:Imp:Pt:Πλάσμα.cfDNA:Ord:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: Imp MOLPATH MOLPATH.DELDUP Ord Pt Δοσολογία ειδικού χρωμοσωμικού cf DNA Κίνδυνος διαγραφής εμβρυϊκού 22q11.2 Πλάσμα Πλάσμα.cfDNA
es-ESSpanish (Spain)Riesgo de deleción 22q11.2:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MXSpanish (Mexico)Riesgo de deleción fetal 22q11.2:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FRFrench (France)Risque délétion 22q11.2 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (Italy)Delezione 22q11.2 rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Delezione o duplicazione genica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CNChinese (China)胎儿 22q11.2 染色体缺失风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 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 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异 特异性的 特异的 胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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