40471-5LOINC 2.82
FBN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
FBN1 gene Mut Anl Bld/T
Component
- FBN1 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- ACMICD; Blood; ECTOL1; FBN; fibrillin 1; Fibrillin 1 (Marfan syndrome); Genetics; GPHYSD2; Heredity; Heritable; Identity or presence; Inherited; MASS; MFS1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; OCTD; PCR; Point in time; Random; SGS; SSKS; Tissue; Tissue, unspecified; WB; Weill-Marchesani syndrome; Whole blood; Whole blood or Tissue; WMS; WMS2
Index terms
- ACMICD
- Blood
- ECTOL1
- FBN
- FBN1 gene targeted mutation analysis
- fibrillin 1
- Fibrillin 1 (Marfan syndrome)
- Genetics
- GPHYSD2
- Heredity
- Heritable
- Identity or presence
- Inherited
- MASS
- MFS1
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
- OCTD
- PCR
- Point in time
- Random
- SGS
- SSKS
- Tissue
- Tissue, unspecified
- WB
- Weill-Marchesani syndrome
- Whole blood
- Whole blood or Tissue
- WMS
- WMS2