94192-2LOINC 2.82
SLC25A20 gene full mutation analysis in Blood or Tissue by Sequencing
SLC25A20 Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the SLC25A20 gene. Mutations in this gene are responsible for Carnitine-acylcarnitine translocase (CACT) deficiency, a rare autosomal recessive disorder of fatty acid oxidation.[GHR gene: SLC25A20]
Component
- SLC25A20 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; CAC; CACT; 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; solute carrier family 25 member 20; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- CAC
- CACT
- 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
- solute carrier family 25 member 20
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue