77110-5LOINC 2.82
KARS gene full mutation analysis in Blood or Tissue by Sequencing
KARS Full Mut Anl Bld/T Seq
Component
- KARS gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Charcot-Marie Tooth disease; Charcot-Marie-Tooth disease, recessive, intermediate type, B; CMT; CMTRIB; DFNB89; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; KARS1; KARS2; KRS; lysyl-tRNA synthetase; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Charcot-Marie Tooth disease
- Charcot-Marie-Tooth disease, recessive, intermediate type, B
- CMT
- CMTRIB
- DFNB89
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- KARS1
- KARS2
- KRS
- lysyl-tRNA synthetase
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue