41102-5LOINC 2.82
GJB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
GJB1 gene Mut Anl Bld/T
Component
- GJB1 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; Charcot-Marie-Tooth neuropathy, X-linked; CMTX; CMTX1; Connexin 32; Cx32; gap junction protein, beta 1, 32kDa; Genetics; Heredity; Heritable; Identity or presence; Inherited; 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
- Charcot-Marie-Tooth neuropathy, X-linked
- CMTX
- CMTX1
- Connexin 32
- Cx32
- gap junction protein, beta 1, 32kDa
- Genetics
- GJB1 gene targeted mutation analysis
- Heredity
- Heritable
- Identity or presence
- Inherited
- 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