FGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method   75391-3

LOINC Code


LOINC code75391-3
nameFGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentFGFR3 gene targeted mutation analysis
propertyFind  =  Finding
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.
systemAmnio fld/CVS
    Amnio fld  =  Amniotic fluid
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
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 nameFGFR3 gene Mut Anl Amn/CVS

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 updated2.66
last change typeMAJ  - change to name field other than Component;
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

ACH
Achondroplasia
AF
Amn
Amn fl
Amn/CVS
Amnio
Amniotic flu
Amniotic fluid
CD333
CEK2
Chorionic villi
Chorionic villus sample
Document
fibroblast growth factor receptor 3
Finding
Findings
Genetics
Gyn
Gynecology
Heredity
Heritable
HSFGFR3EX
Inherited
JTK4
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mut Anl
Mutations
OB
ObGyn
Obstetrics
PCR
Point in time
Random
Thanatophoric dwarfism
Thanatophoric dysplasia

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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