75403-6LOINC 2.82
PDHA1 gene full mutation analysis in Blood or Tissue by Sequencing
PDHA1 Full Mut Anl Bld/T Seq
Component
- PDHA1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; PDHA; PDHAD; PDHCE1A; PHE1A; Point in time; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase E1-alpha deficiency; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; X-linked Leigh syndrome
Index terms
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- PDHA
- PDHAD
- PDHCE1A
- PHE1A
- Point in time
- pyruvate dehydrogenase (lipoamide) alpha 1
- pyruvate dehydrogenase E1-alpha deficiency
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue
- X-linked Leigh syndrome