75589-2

Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

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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.
Source: Regenstrief LOINC

Part Description

LP185771-5   Fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

Fully-Specified Name

Component

Fetal Angelman syndrome risk

Property

Likelihood

Time

Pt

System

WBC.DNA+Plas.cfDNA

Scale

Nar

Method

Dosage of chromosome specific cf DNA

Additional Names

Short Name

Fet AS risk WBC.DNA+cfDNA

Display Name

Angelman syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

Consumer Name Alpha Get Info

Fetal Angelman syndrome risk

Basic Attributes

Class

MOLPATH

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

Language Variants Get Info

Related Names

• AS risk
• Chromosom
• Chromosomes
• Genetics
• Heredity
• Heritable
• Inherited
• Leukocytes
• Molecular pathology
• MOLPATH
• Narrative
• Pl
• Plasma
• Plsm
• Point in time
• Random
• Report
• Risk
• Spec
• WBC.DNA+cfDNA
• WBCs
• White blood cells

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CodeSystem lookup

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LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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.