82536-4LOINC 2.82
SOS1 gene full mutation analysis in Blood or Tissue by Sequencing
SOS1 gene Full Mut Anl Bld/T Seq
Definition
- Full sequencing analysis of all 23 coding exons and intron/exon boundaries of the SOS1 gene is performed to aid in the diagnosis of SOS1-associated Noonan syndrome and hereditary gingival fibromatosis.[GHR gene: SOS1]
Component
- SOS1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GF1; GGF1; GINGF; Heredity; Heritable; HGF; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; NS4; Point in time; Random; sequencing of entire coding region; son of sevenless homolog 1 (Drosophila); SOS-1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- GF1
- GGF1
- GINGF
- Heredity
- Heritable
- HGF
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- NS4
- Point in time
- Random
- sequencing of entire coding region
- son of sevenless homolog 1 (Drosophila)
- SOS-1
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue