94195-5LOINC 2.82
CPT2 gene full mutation analysis in Blood or Tissue by Sequencing
CPT2 gene Full Mut Anl Bld/T Seq
Definition
- Full sequence analysis of the CPT2 gene is performed to confirm a patient's diagnosis of carnitine palmitoyltransferase II deficiency, an autosomal recessive disorder of long-chain fatty-acid oxidation. Testing may also be performed for carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency but disease-causing mutations have not been identified in an affected individual.
Component
- CPT2 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; carnitine palmitoyltransferase 2; carnitine palmitoyltransferase 2 gene; carnitine palmitoyltransferase II gene; CPT1; CPTASE; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; IIAE4; 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
- Blood
- carnitine palmitoyltransferase 2
- carnitine palmitoyltransferase 2 gene
- carnitine palmitoyltransferase II gene
- CPT1
- CPTASE
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- IIAE4
- 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