LOINC Code 94218-5: UBE3A gene full mutation analysis Sequencing Doc (Bld/Tiss)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component UBE3A gene full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both
• Method: Sequencing

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• UBE3A gene full mutation analysis in Blood or Tissue by Sequencing
• UBE3A gene full mutation analysis
• 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.
• 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

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions