AMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics method   40876-5

LOINC Code


LOINC code40876-5
nameAMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentAMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
propertyArb  =  Arbitrary
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
scaleOrd  =  Ordinal:  Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive.
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 nameAMPD1 p.Q12X+P48L Bld/T Ql

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 updated2.56
last change typeNAM  - change to Analyte/Component
change reasonChanged Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.

Related Names

adenosine monophosphate deaminase 1
adenosine monophosphate deaminase 1 (isoform M) gene
Adenosine monophosphate deaminase-1 (muscle) gene
AMPD1 p.Q12X+P48L
Arbitrary
Blood
Genetics
Heredity
Heritable
Inherited
MAD
MADA
MMDD
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Myoadenylate deaminase gene
Ordinal
P prime
PCR
Point in time
QL
Qual
Qualitative
Random
Screen
Tissue
Tissue, unspecified
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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