AutoICD API

94218-5

Laboratory

UBE3A gene full mutation analysis in Blood or Tissue by Sequencing

Definition

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.

LOINC 6-Axis Classification

Component

UBE3A gene full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Sequencing

Details

Class

MOLPATH

Order/Observation

Both

Short Name

UBE3A gene Full Mut Anl Bld/T Seq

Display Name

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

Related Names

ANCRAngelman syndromeASBloodCTCL tumor antigen se37-2DocumentE6APE6-APEPVE6APFindingFindingsfull gene sequencingFull Mut AnlGeneticsHeredityHeritablehigh-throughput sequencingHPVE6AHTShuman papilloma virus E6-associated proteinInheritedMolecular pathologyMOLPATHMutMutationsNext generation sequencingNGSoncogenic protein-associated protein E6-APPoint in timeRandomsequencing of entire coding regionTissueTissue, unspecifiedubiquitin protein ligase E3AUbiquitin-protein ligase E3AWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94218-5?

LOINC code 94218-5 identifies "UBE3A gene full mutation analysis in Blood or Tissue by Sequencing". 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.

What does 94218-5 measure?

This code measures UBE3A gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.