94209-4LOINC 2.82
NAGLU gene full mutation analysis in Blood or Tissue by Sequencing
NAGLU Full Mut Anl Bld/T Seq
Definition
- Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the NAGLU gene to confirm a diagnosis of mucopolysaccharidosis type IIIB. Testing may also be performed on at-risk family members when there is a family history of mucopolysaccharidosis type IIIB but a disease-causing mutation has not been previously identified.[GHR gene: NAGLU]
Component
- NAGLU gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; CMT2V; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MPS3B; MPS-IIIB; Mut; Mutations; N-acetyl-alpha-glucosaminidase; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; UFHSD; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- CMT2V
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MPS-IIIB
- MPS3B
- Mut
- Mutations
- N-acetyl-alpha-glucosaminidase
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- UFHSD
- WB
- Whole blood
- Whole blood or Tissue