MLH1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA   79416-4

LOINC Code


LOINC code79416-4
nameMLH1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
descriptionDeletion/duplication testing for MLH1 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full MLH1 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
statusACTIVE

Fully-Specified Name

componentMLH1 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 nameMLH1 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
COCA2
Del
Del+Dup
Deletions
Document
Dp
FCC2
Finding
Findings
Genetics
Heredity
Heritable
hMLH1
HNPCC
HNPCC2
Inherited
Lynch syndrome
MGC5172
Molecular pathology
MOLPATH
MOLPATH.DELDUP
mutL homolog 1
MutL homolog 1, colon cancer, nonpolyposis type 2
Point in time
Random
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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