77127-9LOINC 2.82
USH1C gene full mutation analysis in Blood or Tissue by Sequencing
USH1C Full Mut Anl Bld/T Seq
Component
- USH1C gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- AIE-75; Blood; DFNB18; DFNB18A; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; harmonin; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Non-syndromic sensorineural deafness autosomal recessive type 18; NY-CO-37; NY-CO-38; PDZ-45; PDZ73; PDZ-73; PDZ-73/NY-CO-38; PDZD7C; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; ush1cpst; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome type 1C; WB; Whole blood; Whole blood or Tissue
Index terms
- AIE-75
- Blood
- DFNB18
- DFNB18A
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- harmonin
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Non-syndromic sensorineural deafness autosomal recessive type 18
- NY-CO-37
- NY-CO-38
- PDZ-45
- PDZ-73
- PDZ-73/NY-CO-38
- PDZ73
- PDZD7C
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- ush1cpst
- Usher syndrome 1C (autosomal recessive, severe)
- Usher syndrome type 1C
- WB
2 further terms