95277-0LOINC 2.82
GJB1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
GJB1 gene Del+Dup + Full Mut Anl Bld/T
Component
- GJB1 gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; Charcot-Marie-Tooth neuropathy, X-linked; CMTX; CMTX1; Connexin 32; CX32; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; gap junction protein, beta 1, 32kDa; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- Charcot-Marie-Tooth neuropathy, X-linked
- CMTX
- CMTX1
- Connexin 32
- CX32
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- gap junction protein, beta 1, 32kDa
- Genetics
- GJB1 gene deletion+duplication & full mutation analysis
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- PCR
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue