FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal   48972-4

LOINC Code


LOINC code48972-4
nameFGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
statusACTIVE

Fully-Specified Name

componentFGFR2 gene+FGFR3 gene targeted mutation analysis
propertyPrid  =  Presence or identity:  Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameFGFR2+FGFR3 gene Mut Anl Bld/T

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.63
last change typeMIN  - change to field other than name
change reasonBased on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.

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

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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