UBE3A gene full mutation analysis in Blood or Tissue by Sequencing   94218-5

LOINC Code


LOINC code94218-5
nameUBE3A gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull 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.
statusACTIVE

Fully-Specified Name

componentUBE3A gene full mutation analysis
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short nameUBE3A gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.68
last change typeADD  - added

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

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.

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