HBB gene c.251G>A [Presence] in Blood by Molecular genetics method   55240-6

LOINC Code


LOINC code55240-6
nameHBB gene c.251G>A [Presence] in Blood by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentHBB gene.c.251G>A
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 nameHBB c.251G>A Bld Ql

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationObservation

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.

Member of these Panels

55235-6Abnormal hemoglobin gene panel - Blood by Molecular genetics method

History/Usage

first released
last updated2.56
last change typeMIN  - change to field other than name
change reasonChanged Component part from c.G251A to c.251G>A to harmonize with HGVS nomenclature guidelines.; 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

Beta globulin gene
Beta thalessemia
beta-globin
Blood
c.G251A
CD113t-C
Genetics
Gly84Val
HB Mizumani
HB Pyrgos
HBB c.251G>
A
Hemoglobin beta chain
Hemoglobin S gene
hemoglobin, beta
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
PCR
Point in time
PR
QL
Qual
Qualitative
Random
rs1803195
Screen
Sickle cell anemia
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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