HEXA gene full mutation analysis in Blood or Tissue by Sequencing   76033-0

LOINC Code


LOINC code76033-0
nameHEXA gene full mutation analysis in Blood or Tissue by Sequencing
statusACTIVE

Fully-Specified Name

componentHEXA 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 nameHEXA gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

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 rank19983 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 reasonUpdated Scale from "Nar" to "Doc" since results can be reported in narrative or structured format, which is represent as "Doc" in LOINC. Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

beta-N-acetylhexosaminidase gene
Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
GM2-gangliosidosis
Heredity
Heritable
hexosaminidase A (alpha polypeptide)
hexosaminidase A (alpha polypeptide) gene
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
N-acetyl-beta-glucosaminidase gene
Next generation sequencing
NGS
Point in time
Random
sequencing of entire coding region
Tay-Sachs disease
Tissue
Tissue, unspecified
TSD
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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