48972-4LOINC 2.82
FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
FGFR2+FGFR3 gene Mut Anl Bld/T
Component
- FGFR2 gene+FGFR3 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- ACH; Achondroplasia; Bacteria expressed kinase; BBDS; BEK; BFR-1; Blood; CD332; CD333; CEK2; CEK3; CFD1; Craniofacial dysostosis 1; Crouzon syndrome; ECT1; FGFR2+FGFR3 gene; fibroblast growth factor receptor 2; fibroblast growth factor receptor 3; Genetics; Heredity; Heritable; HSFGFR3EX; Identity or presence; Inherited; Jackson-Weiss syndrome; JTK4; JWS; Keratinocyte growth factor receptor; KGFR; K-SAM; KSAM-1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Pfeiffer syndrome; Point in time; Random; Thanatophoric dwarfism; Thanatophoric dysplasia; Tissue; Tissue, unspecified; TK14; TK25; WB; Whole blood; Whole blood or Tissue
Index terms
- ACH
- Achondroplasia
- Bacteria expressed kinase
- BBDS
- BEK
- BFR-1
- Blood
- CD332
- CD333
- CEK2
- CEK3
- CFD1
- Craniofacial dysostosis 1
- Crouzon syndrome
- ECT1
- FGFR2 gene+FGFR3 gene targeted mutation analysis
- FGFR2+FGFR3 gene
- fibroblast growth factor receptor 2
- fibroblast growth factor receptor 3
- Genetics
- Heredity
- Heritable
- HSFGFR3EX
- Identity or presence
- Inherited
- Jackson-Weiss syndrome
- JTK4
- JWS
- K-SAM
- Keratinocyte growth factor receptor
- KGFR
- KSAM-1
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- Nominal
13 further terms