MCOLN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method   46965-0

LOINC Code


LOINC code46965-0
nameMCOLN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentMCOLN1 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.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
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 nameMCOLN1 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

test rank7573 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
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.; 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

Blood
Document
Finding
Findings
Genetics
Heredity
Heritable
Inherited
MG-2
ML4
MLIV
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
MST080
MSTP080
mucolipidin
Mucolipidosis type IV protein
mucolipin 1
Mut
Mut Anl
Mutations
PCR
Point in time
Random
Tissue
Tissue, unspecified
TRPML1
TRP-ML1
TRPM-L1
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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