GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics method   35690-7

LOINC Code


LOINC code35690-7
nameGBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics method
description2 possible substitutions
statusACTIVE

Fully-Specified Name

componentGBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
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 nameGBA c.IVS2+1G>A/T 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 updated2.40
last change typeMIN  - change to field other than name
change reasonUpdated Component part to describe mutations at coding level.

Related Names

Arbitrary
Beta glucosidase gene
Blood
Gaucher disease
GBA c.IVS2+1G>
A/T
GBA1
GBA1 (LL)
GC (SP)
GCB
Genetics
GLUC
GLUC (LL)
Glucocerebrosidase gene
glucosidase, beta, acid
Heredity
Heritable
i
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
PCR
Point in time
QL
Qual
Qualitative
Random
Screen
T prime
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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