94210-2LOINC 2.82
ARSB gene full mutation analysis in Blood or Tissue by Sequencing
ARSB Full Mut Anl Bld/T Seq
Definition
- Full gene mutation analysis of all 8 exons in the ARSB gene is performed for the confirmation of a diagnosis of mucopolysaccharidosis type VI, an autosomal recessive condition characterized by reduced or absent activity of the arylsulfatase B enzyme due to mutations in the ARSB gene.[GHR gene: ARSB]
Component
- ARSB gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- arylsulfatase B; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl;
G4S; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MPS6; 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
- arylsulfatase B
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- G4S
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MPS6
- 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