LOINC Home

{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA   79417-2

LOINC Code


LOINC code79417-2
namePMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
descriptionDeletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
statusACTIVE

Fully-Specified Name

componentPMS2 gene 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.)
methodMLPA

Additional Names

short namePMS2 gene Del+Dup Bld/T MLPA

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 updated2.65
last change typeMIN  - change to field other than name

Related Names

Amplification
Blood
Del
Del+Dup
Deletions
Document
Dp
Finding
Findings
Genetics
Hereditary Nonpolyposis Colorectal Cancer
Heredity
Heritable
HNPCC4
Inherited
Lynch syndrome
 MLH4
Molecular pathology
MOLPATH
MOLPATH.DELDUP
PMS2CL
PMSL2
Point in time
Primitive Neuroectodermal Tumor
Random
Tissue
Tissue, unspecified
Turcot 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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