MSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method   89039-2

LOINC Code


LOINC code89039-2
nameMSH2 gene deletion+duplication and full mutation analysis and EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
descriptionThis test includes full sequencing analysis of the MSH2 gene as well as deletions and/or duplication analysis of one or more exons in the MSH2 gene and exons 8 and 9 in the EPCAM gene. Testing is performed for the diagnosis of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer (HNPCC)) and for predictive diagnosis and potential early intervention for at risk family members.
statusACTIVE

Fully-Specified Name

componentMSH2 gene deletion+duplication & full mutation analysis & EPCAM gene exons 8 & 9 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.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameMSH2 DelDup+Full EPCAM 8+9 DelDup Bld/T

Basic Attributes

classMOLPATH
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
BAT-26
Blood
COCA1
Colon cancer nonpolyposis type 1
Del
Del+Dup
Deletions
DIAR5
Document
Dp
EGP-2
EGP314
EGP40
EPCAM Exons 8 + 9
epithelial cell adhesion molecule
ESA
FCC1
Finding
Findings
HNPCC
HNPCC1
HNPCC8
KS1/4
KSA
LCFS2
Lynch syndrome
M4S1
MIC18
MK-1
Molecular genetics
Molecular pathology
MOLPATH
MSH2 Del+Dup+Full EPCAM 8+9
MSH2 DelDup+Full + EPCAM Ex8+9 DelDup
Mut
Mutations
mutS homolog 2
PCR
Point in time
Random
TACSTD1
Tissue
Tissue, unspecified
TROP1
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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