SLC26A4 gene p.Thr416Pro [Presence] in Blood by Molecular genetics method   53724-1

LOINC Code


LOINC code53724-1
nameSLC26A4 gene p.Thr416Pro [Presence] in Blood by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentSLC26A4 gene.p.Thr416Pro
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  =  Whole blood
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 nameSLC26A4 p.T416P Bld 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 typeMIN  - change to field other than name
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.; 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

Blood
Deafness, autosomal recessive 4
DFNB4
EVA
Genetics
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
NSRD4
Ordinal
P prime
PCR
PDS
Pendred syndrome
Pendrin (Sodium-independent chloride/iodide transporter)
Point in time
PR
QL
Qual
Qualitative
Random
rs28939086
Screen
SLC26A4 p.T416P
solute carrier family 26 (anion exchanger), member 4
Solute carrier family 26, member 4
TDH2B
Thr416Pro
WB
Whole blood

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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