69482-8LOINC 2.82
ENG gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
ENG Fam Mut Anl Bld/T
Definition
- This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ENG gene. Mutation analysis only includes testing for the known familial mutation(s).
Component
- ENG gene mutation analysis limited to known familial mutations
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Blood; CD105; CD105 Ag; Document; END; Endoglin; Fam Mut Anl; Finding; Findings; Genetics; Heredity; Heritable; HHT1; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; ORW; ORW1; Osler-Rendu-Weber syndrome 1; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- CD105
- CD105 Ag
- Document
- END
- Endoglin
- Fam Mut Anl
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- HHT1
- Inherited
- LMTED
- LTD
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutation
- Mutations
- Muts
- ORW
- ORW1
- Osler-Rendu-Weber syndrome 1
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue