75584-3

Fetal Prader-Willi syndrome 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.

Part Description

LP185770-7 Fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

LOINC Names Get Info

Fully-Specified Name: Fetal Prader-Willi syndrome risk:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA
Long Common Name: Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
Short Name: Fet PWS risk WBC.DNA+cfDNA Ql
Display Name: Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome risk

Part Model Get Info

Component
Fetal Prader-Willi syndrome risk
LP185770-7
- Analyte
  Fetal Prader-Willi syndrome risk
  LP185770-7
  - Component Numerator
    Fetal Prader-Willi syndrome risk
    LP185770-7
    - Component Numerator Core
      Fetal Prader-Willi syndrome risk
      LP185770-7
    - 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
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
WBC.DNA+Plas.cfDNA
LP185797-0
- System Core
  WBC.DNA+Plas.cfDNA
  LP185797-0
- Super System
  NULL
Scale
Ord
LP7751-3
Method
Dosage of chromosome specific cf DNA
LP172871-8

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 (MIN)
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
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
cs-CZ	Czech (Czechia)	Prader-Williho syndrom riziko u plodu:Interpretace:Časový bod:DNA volná cirkulující (cfDNA) a DNA leukocytů (WBC DNA):Ordinální:Dávkování chromozomálně specifické cfDNA
el-GR	Greek (Greece)	Κίνδυνος εμβρυικού συνδρόμου Prader-Willi:Imp:Pt:Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA:Ord:Δοσολογία ειδικού χρωμοσωμικού cf DNA Synonyms: Imp MOLPATH MOLPATH.DEL Ord Pt Αριθμός λευκών αιμοσφαιρίων Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA Δοσολογία ειδικού χρωμοσωμικού cf DNA Κίνδυνος εμβρυικού συνδρόμου Prader-Willi Πλάσμα Πλάσμα.cfDNA
es-ES	Spanish (Spain)	Riesgo de síndrome de Prader-Willi: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 síndrome de Prader-Willi fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR	French (France)	Risque foetal du syndrome de Prader-Willi:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Prader Willi, 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) Rischio di sindrome di Prader Willi
zh-CN	Chinese (China)	胎儿普拉德-威利综合征风险: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 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险血浆循环 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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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.