69486-9LOINC 2.82
LDLR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
LDLR gene Del+Dup Bld/T MLPA
Definition
- This term is used for testing the presence of large genomic duplications and deletions within the LDLR gene to aid in the diagnosis of familial hypercholesterolemia (FH).
Component
- LDLR gene deletion+duplication
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- MLPA
Related names
- Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; FH; FHC; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LDLCQ2; Low Density Lipoprotein Receptor; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- Del
- Del+Dup
- Deletions
- Document
- Dp
- FH
- FHC
- Finding
- Findings
- Genetics
- Heredity
- Heritable
- Inherited
- LDLCQ2
- LDLR gene deletion+duplication
- Low Density Lipoprotein Receptor
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue