69481-0LOINC 2.82
ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
ACVRL1+ENG gene Del+Dup Bld/T MLPA
Definition
- This term is used for testing the presence of large genomic duplications and deletions within the ACVRL1 and ENG genes, which are commonly associated with hereditary hemorrhagic telangiectasia (HHT).
Component
- ACVRL1 gene+ENG gene deletion+duplication
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- MLPA
Related names
- activin A receptor type II-like 1; Activin receptor-like kinase 1; ACVRL1+ENG gene; ACVRLK1; ALK1; ALK-1; Amplification; Blood; CD105; CD105 Ag; Del; Del+Dup; Deletions; Document; Dp; END; Endoglin; Finding; Findings; Genetics; Heredity; Heritable; HHT; HHT1; HHT2; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; ORW; ORW1; ORW2; Osler-Rendu-Weber syndrome 1; Osler-Rendu-Weber syndrome 2; Point in time; Random; Serine/threonine-protein kinase receptor R3 precursor; SKR3; TGF-B superfamily receptor type I; Tissue; Tissue, unspecified; TSR-I; WB; Whole blood; Whole blood or Tissue
Index terms
- activin A receptor type II-like 1
- Activin receptor-like kinase 1
- ACVRL1 gene+ENG gene deletion+duplication
- ACVRL1+ENG gene
- ACVRLK1
- ALK-1
- ALK1
- Amplification
- Blood
- CD105
- CD105 Ag
- Del
- Del+Dup
- Deletions
- Document
- Dp
- END
- Endoglin
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- HHT
- HHT1
- HHT2
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- ORW
- ORW1
- ORW2
- Osler-Rendu-Weber syndrome 1
- Osler-Rendu-Weber syndrome 2
- Point in time
- Random
- Serine/threonine-protein kinase receptor R3 precursor
- SKR3
- TGF-B superfamily receptor type I
6 further terms