69383-8

LOINC Code


LOINC code69383-8
name
descriptionThis test is for identifying mutations within the AGXT gene in individuals with the pyridoxine responsive form of primary hyperoxaluria type 1 (PH1).
statusACTIVE

Fully-Specified Name

componentAGXT 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 name2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationAGXT gene Mut A

History/Usage

first released
last updated2.73
last change typeMIN  - change to field other than name

Related Names

N

Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, 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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