77117-0LOINC 2.82
RPGRIP1 gene full mutation analysis in Blood or Tissue by Sequencing
RPGRIP1 Full Mut Anl Bld/T Seq
Component
- RPGRIP1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Congenital blindness; CORD13; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; LCA6; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; Retinitis pigmentosa; retinitis pigmentosa GTPase regulator interacting protein 1; RGI1; RGRIP; RPGRIP; RPGRIP1d; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Congenital blindness
- CORD13
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- LCA6
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Random
- Retinitis pigmentosa
- retinitis pigmentosa GTPase regulator interacting protein 1
- RGI1
- RGRIP
- RPGRIP
- RPGRIP1d
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue