69485-1LOINC 2.82
LDLR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
LDLR gene 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 LDLR gene. Mutation analysis only includes testing for the known familial mutation(s).
Component
- LDLR gene mutation analysis limited to known familial mutations
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Blood; Document; Fam Mut Anl; FH; FHC; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LDLCQ2; LMTED; Low Density Lipoprotein Receptor; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Document
- Fam Mut Anl
- FH
- FHC
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- Inherited
- LDLCQ2
- LMTED
- Low Density Lipoprotein Receptor
- LTD
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutation
- Mutations
- Muts
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue