GBA gene full mutation analysis in Blood or Tissue by Sequencing   94230-0

LOINC Code


LOINC code94230-0
nameGBA gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequence analysis is performed to test for the presence of a mutation in the GBA gene to confirm a diagnosis of Gaucher disease. Testing may also be performed on at-risk family members when there is a family history of Gaucher disease but a disease-causing mutation has not been previously identified.[GHR gene: GBA]
statusACTIVE

Fully-Specified Name

componentGBA gene full mutation analysis
propertyFind  =  Finding
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
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short nameGBA gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH
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 updated2.68
last change typeADD  - added

Related Names

Beta glucosidase gene
Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Gaucher disease
GBA1
GBA1 (LL)
GC (SP)
GCB
Genetics
GLUC
GLUC (LL)
Glucocerebrosidase gene
glucosidase, beta, acid
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
Point in time
Random
sequencing of entire coding region
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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