94242-5LOINC 2.82
BTD gene full mutation analysis in Blood or Tissue by Sequencing
BTD gene 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 NBTD gene to confirm a clinical diagnosis of biotinidase deficiency. Testing may also be performed on at-risk family members when there is a family history of biotinidase deficiency but a disease-causing mutation has not been previously identified.[GHR gene: NBTD]
Component
- BTD gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- biotinase; biotinidase; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; 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
- biotinase
- biotinidase
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- 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