LOINC Home

{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

Chromosome region 22q11.2 deletion and duplication mutation analysis in Blood or Tissue by FISH   82246-0

LOINC Code


LOINC code82246-0
nameChromosome region 22q11.2 deletion and duplication mutation analysis in Blood or Tissue by FISH
statusACTIVE

Fully-Specified Name

componentChromosome region 22q11.2 deletion+duplication
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.)
methodFISH

Additional Names

short nameChr 22q11.2 Del+Dup Bld/T FISH

Basic Attributes

classMOLPATH.DELDUP
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

first released
last updated2.67
last change typeNAM  - change to Analyte/Component
change reasonRelease 2.67: COMPONENT: Updated the Component to reflect that the FISH study can detect deletions and duplications.

Related Names

Amplification
Blood
CATCH22
Chr 22q11.2
Chr 22q11.2 deletion
Chromosom
Chromosomes
Cyto loc
Del
Del+Dup
Deletions
DiGeorge Syndrome
Document
Dp
Finding
Findings
 Fluorescent in situ hybridization
Genetics
Heredity
Heritable
Inherited
Molecular pathology
MOLPATH
MOLPATH.DELDUP
Point in time
Random
Tissue
Tissue, unspecified
Velo Cardio Facial Syndrome
WB
Whole blood
Whole blood or Tissue

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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