69478-6LOINC 2.82
AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
AGXT gene Del+Dup Bld/T MLPA
Definition
- This term is used for testing the presence of large genomic duplications and deletions within the AGXT gene, which is associated with the primary hyperoxaluria type 1 (PH1) disorder.
Component
- AGXT gene deletion+duplication
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- MLPA
Related names
- 2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; oxalosis I; 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
- AGXT gene deletion+duplication
- AGXT1
- alanine-glyoxylate aminotransferase
- Amplification
- Blood
- Del
- Del+Dup
- Deletions
- Document
- Dp
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- Inherited
- L-alanine: glyoxylate aminotransferase 1
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- oxalosis I
- 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