94200-3LOINC 2.82
FTCD gene full mutation analysis in Blood or Tissue by Sequencing
FTCD Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis for the detection of a mutation in the coding regions and intron/exon boundaries of the FTCD gene for confirming glutamate formiminotransferase deficiency in a patient or ruling out other diseases associated with high levels of urine formiminoglutamate.
Component
- FTCD gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; formimidoyltransferase cyclodeaminase; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; LCHC1; 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
- Document
- Finding
- Findings
- formimidoyltransferase cyclodeaminase
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- LCHC1
- 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