38930-4LOINC 2.82
EXT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
EXT1 gene Mut Anl Bld/T
Component
- EXT1 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; Exostoses (multiple) 1; exostosin glycosyltransferase 1; Exostosin-1; EXT; Genetics; Heredity; Heritable; Identity or presence; Inherited; Langer-Giedion syndrome; LGCR; LGS; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; Trichorhinophalangeal syndrome 2; TRPS2; TTV; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Exostoses (multiple) 1
- exostosin glycosyltransferase 1
- Exostosin-1
- EXT
- EXT1 gene targeted mutation analysis
- Genetics
- Heredity
- Heritable
- Identity or presence
- Inherited
- Langer-Giedion syndrome
- LGCR
- LGS
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- Trichorhinophalangeal syndrome 2
- TRPS2
- TTV
- WB
- Whole blood
- Whole blood or Tissue