69383-8LOINC 2.82
AGXT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
AGXT gene Mut Anl Bld/T
Definition
- This test is for identifying mutations within the AGXT gene in individuals with the pyridoxine responsive form of primary hyperoxaluria type 1 (PH1).
Component
- AGXT gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- 2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; oxalosis I; PCR; PH1; Point in time; primary hyperoxaluria type 1; Random; serine:pyruvate aminotransferase; SPAT; SPT; Tissue; Tissue, unspecified; TLH6; WB; Whole blood; Whole blood or Tissue
Index terms
- 2q37.3
- AGT
- AGT1
- AGXT1
- alanine-glyoxylate aminotransferase
- Blood
- Document
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- Inherited
- L-alanine: glyoxylate aminotransferase 1
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- oxalosis I
- PCR
- PH1
- Point in time
- primary hyperoxaluria type 1
- Random
- serine:pyruvate aminotransferase
- SPAT
- SPT
- Tissue
- Tissue, unspecified
- TLH6
- WB
- Whole blood
- Whole blood or Tissue