75578-5

Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Active

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component: Fetal 22q11.2 deletion risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 22q11.2 del risk WBC.DNA+cfDNA Ql
Display Name: 22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion risk

Example Answer List: LL3000-8

Source: Natera

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performedCopyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Riesgo de deleción 22q11.2:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 22q11.2:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR	French (France)	Risque délétion 22q11.2 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 22q11.2 rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 22q11.2 染色体缺失风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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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