NPHS1 gene mutations found [Identifier] in Body fluid by Molecular genetics method Nominal   41074-6

LOINC Code


LOINC code41074-6
nameNPHS1 gene mutations found [Identifier] in Body fluid by Molecular genetics method Nominal
statusACTIVE

Fully-Specified Name

componentNPHS1 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.
systemBody fld  =  Body fluid, 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 nameNPHS1 gene Mut Anl Fld

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

B/F
BF
bod
Bodies
Body fluid
Body fluid, unsp
CNF
Fl
Fld
FLU
Fluid
Genetics
Heredity
Heritable
Identity or presence
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mut Anl
Mutations
Nephrin
nephrosis 1, congenital, Finnish type
nephrosis 1, congenital, Finnish type (nephrin)
Nominal
NPHN
PCR
Point in time
Random

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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