39080-7LOINC 2.82
EPM2A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
EPM2A gene Mut Anl Bld/T
Component
- EPM2A gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; Epilepsy, progressive myoclonus type 2A, Lafora disease; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; Genetics; Heredity; Heritable; Identity or presence; Inherited; Laforin; LD; LDE; MELF; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Epilepsy, progressive myoclonus type 2A, Lafora disease
- epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
- EPM2
- EPM2A gene targeted mutation analysis
- Genetics
- Heredity
- Heritable
- Identity or presence
- Inherited
- Laforin
- LD
- LDE
- MELF
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue