77114-7LOINC 2.82
FBN1 gene full mutation analysis in Blood or Tissue by Sequencing
FBN1 gene Full Mut Anl Bld/T Seq
Component
- FBN1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- ACMICD; Blood; Document; ECTOL1; FBN; fibrillin 1; Fibrillin 1 (Marfan syndrome); Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GPHYSD2; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; MASS; MFS1; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; OCTD; Point in time; Random; sequencing of entire coding region; SGS; SSKS; Tissue; Tissue, unspecified; WB; Weill-Marchesani syndrome; Whole blood; Whole blood or Tissue; WMS; WMS2
Index terms
- ACMICD
- Blood
- Document
- ECTOL1
- FBN
- fibrillin 1
- Fibrillin 1 (Marfan syndrome)
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- GPHYSD2
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- MASS
- MFS1
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- OCTD
- Point in time
- Random
- sequencing of entire coding region
- SGS
- SSKS
- Tissue
- Tissue, unspecified
- WB
- Weill-Marchesani syndrome
- Whole blood
- Whole blood or Tissue
- WMS
1 further terms