94230-0LOINC 2.82
GBA gene full mutation analysis in Blood or Tissue by Sequencing
GBA gene Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA]
Component
- GBA gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Beta glucosidase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gaucher disease; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Beta glucosidase gene
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Gaucher disease
- GBA1
- GBA1 (LL)
- GC (SP)
- GCB
- Genetics
- GLUC
- GLUC (LL)
- Glucocerebrosidase gene
- glucosidase, beta, acid
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue