94218-5

UBE3A gene full mutation analysis in Blood or Tissue by Sequencing

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Term Description

Full gene sequence analysis of the UBE3A (ubiquitin protein ligase E3A) gene is performed for the confirmation of a diagnosis of Angelman syndrome in patients who have previously tested negative by methylation analysis. Bidirectional sequence analysis is performed to detect a mutation in all coding regions and intron/exon boundaries of the UBE3A gene.

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP33141-0   UBE3A gene
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

LP33141-0   UBE3A gene
The UBE3A gene (ubiquitin protein ligase E3A) [HGNC Gene ID:12496] is located on chromosome 15q11.2. This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7337] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

UBE3A gene full mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Sequencing

Additional Names

Long Common Name

UBE3A gene full mutation analysis in Blood or Tissue by Sequencing

Short Name

UBE3A gene Full Mut Anl Bld/T Seq

Display Name

UBE3A gene full mutation analysis Sequencing Doc (Bld/Tiss)

Consumer Name Alpha Get Info

UBE3A gene variant analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH

Type

Laboratory

First Released

Version 2.68

Last Updated

Version 2.68 (ADD)

Order vs. Observation

Both

Language Variants Get Info

Related Names

• ANCR
• Angelman syndrome
• AS
• Blood
• CTCL tumor antigen se37-2
• Document
• E6AP
• E6-AP
• EPVE6AP
• Finding
• Findings
• full gene sequencing
• Full Mut Anl
• Genetics
• Heredity
• Heritable
• high-throughput sequencing
• HPVE6A
• HTS
• human papilloma virus E6-associated protein
• Inherited
• Molecular pathology
• MOLPATH
• Mut
• Mutations
• Next generation sequencing
• NGS
• oncogenic protein-associated protein E6-AP
• Point in time
• Random
• sequencing of entire coding region
• Tissue
• Tissue, unspecified
• ubiquitin protein ligase E3A
• Ubiquitin-protein ligase E3A
• WB
• Whole blood
• Whole blood or Tissue

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Copyright © 2025 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.