SERPINA1 gene p.Glu342Lys [Presence] in Blood or Tissue by Molecular genetics method   21725-7

LOINC Code


LOINC code21725-7
nameSERPINA1 gene p.Glu342Lys [Presence] in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentSERPINA1 gene.p.Glu342Lys
propertyPrThr  =  Present or threshold:  The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold.
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 nameSERPINA1 p.E342K 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

test rank14161 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 reasonMutation variant is Glu342Lys. Changed Component part from E342V to E342K since 1-letter abbreviation for amino acid Lysine is K. Changed 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.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.

Related Names

A1A
A1AT
AAT
Alpha-1-antitrypsin deficiency
alpha1AT
Anti-elastase gene
Blood
E342V
Genetics
Glu342Lys
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
P prime
PCR
PI
PI1
Point in time
PR
PRO2275
Protease inhibitor 1
QL
Qual
Qualitative
Random
Screen
Serine (or cysteine) proteinase inhibitor
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA1 p.E342K
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue
Z variant

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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