75594-2

Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

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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. It represents the risk based on a priori risk combined with the Panorama test result.

Part Description

LP185908-3 Fetal 5p deletion risk
5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat syndrome

LOINC Names Get Info

Fully-Specified Name: Fetal 5p deletion risk:Likelihood:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosage of chromosome specific cf DNA
Long Common Name: Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
Short Name: Fet 5p del risk WBC.DNA+cfDNA Qn
Display Name: 5p del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 5p deletion risk

Part Model Get Info

Component
Fetal 5p deletion risk
LP185908-3
- Analyte
  Fetal 5p deletion risk
  LP185908-3
  - Component Numerator
    Fetal 5p deletion risk
    LP185908-3
    - Component Numerator Core
      Fetal 5p deletion risk
      LP185908-3
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Likelihood
LP185777-2
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
Qn
LP7753-9
Method
Dosage of chromosome specific cf DNA
LP172871-8

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)	5p delece riziko u plodu:Pravděpodobnost:Časový bod:DNA volná cirkulující (cfDNA) a DNA leukocytů (WBC DNA):Kvantitativní:Dávkování chromozomálně specifické cfDNA
el-GR	Greek (Greece)	Κίνδυνος διαγραφής εμβρυϊκού 5p:Πιθανότητα:Pt:Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA:Qn:Δοσολογία ειδικού χρωμοσωμικού cf DNA Synonyms: MOLPATH MOLPATH.DEL Pt Qn Αριθμός λευκών αιμοσφαιρίων Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA Δοσολογία ειδικού χρωμοσωμικού cf DNA Κίνδυνος διαγραφής εμβρυϊκού 5p Πιθανότητα Πλάσμα Πλάσμα.cfDNA
es-ES	Spanish (Spain)	Riesgo de deleción 5p:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 5p:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR	French (France)	Risque délétion 5p foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 5p rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn: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 Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 5p 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型: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;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;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 5p 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 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 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

Example Units

Unit	Source
{risk}	Example UCUM Units

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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.