90851-7LOINC 2.82
GJB2 gene full mutation analysis in Blood or Tissue by Sequencing
GJB2 gene Full Mut Anl Bld/T Seq
Component
- GJB2 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Connexin 26; Cx26; Deafness, autosomal dominant 3; Deafness, autosomal recessive 1; DFNA3; DFNA3A; DFNB1; DFNB1A; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gap junction beta-2 protein gene; gap junction protein, beta 2, 26kDa; Genetics; GJB2 full mut analysis; Heredity; Heritable; HID; high-throughput sequencing; HTS; Inherited; KID; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; NSRD1; Point in time; PPK; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Connexin 26
- Cx26
- Deafness, autosomal dominant 3
- Deafness, autosomal recessive 1
- DFNA3
- DFNA3A
- DFNB1
- DFNB1A
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Gap junction beta-2 protein gene
- gap junction protein, beta 2, 26kDa
- Genetics
- GJB2 full mut analysis
- Heredity
- Heritable
- HID
- high-throughput sequencing
- HTS
- Inherited
- KID
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- NSRD1
- Point in time
- PPK
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
2 further terms