41069-6LOINC 2.82
PPT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
PPT1 gene Mut Anl Bld/T
Component
- PPT1 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; Ceroid lipofuscinosis, neuronal-1, infantile; CLN1; Genetics; Heredity; Heritable; Identity or presence; INCL; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; palmitoyl-protein thioesterase 1; Palmitoyl-Protein Thioesterase gene; PCR; Point in time; PPT; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Ceroid lipofuscinosis, neuronal-1, infantile
- CLN1
- Genetics
- Heredity
- Heritable
- Identity or presence
- INCL
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- palmitoyl-protein thioesterase 1
- Palmitoyl-Protein Thioesterase gene
- PCR
- Point in time
- PPT
- PPT1 gene targeted mutation analysis
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue