40434-3

LOINC Code


LOINC code40434-3
name
statusACTIVE

Fully-Specified Name

componentAPTX 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 nameAOA; AOA1; aprataxin; Aprataxin gene; Ataxia 1, early onset with hypoalbuminemia; AXA1; Blood; Document; EAOH; EOAHA; FHA-HIT; Finding; Findings; FLJ20157; Genetics; Heredity; Heritable; HGNC:902; Inherited; MGC1072; Molecular genetics; Molecular patholog

Basic Attributes

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

History/Usage

first released
last updated2.66
last change typeMAJ  - change to name field other than Component;

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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