94218-5LOINC 2.82
UBE3A gene full mutation analysis in Blood or Tissue by Sequencing
UBE3A gene Full Mut Anl Bld/T Seq
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.
Component
- UBE3A gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
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 ligaseE3A; WB; Whole blood; Whole blood or Tissue
Index terms
- ANCR
- Angelman syndrome
- AS
- Blood
- CTCL tumor antigen se37-2
- Document
- E6-AP
- E6AP
- 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