EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by MLPA   79418-0

LOINC Code


LOINC code79418-0
nameEPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by MLPA
descriptionMultiple-ligation-probe amplification assays (MLPA) are performed to detect copy number variations (deletions and duplications) of exons 8 and 9 in the EPCAM (formerly known as TACSTD1) gene. Exact breakpoints are not determined for any large deletion or duplications detected by this analysis. Deletions or duplictions not involving exons 8 or 9 of the EPCAM gene will not be detected by this assay. Exon numbering is based on the mRNA isoform NM_002354.
statusACTIVE

Fully-Specified Name

componentEPCAM 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.)
methodMLPA

Additional Names

short nameEPCAM Exons 8 + 9 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

test rank16652 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name

Related Names

Amplification
Blood
Del
Del+Dup
Deletions
DIAR5
Document
Dp
EGP-2
EGP314
EGP40
EPCAM Exons 8 + 9
epithelial cell adhesion molecule
ESA
Finding
Findings
Genetics
Heredity
Heritable
HNPCC8
Inherited
KS1/4
KSA
Lynch syndrome
M4S1
MIC18
MK-1
Molecular pathology
MOLPATH
MOLPATH.DELDUP
Point in time
Random
TACSTD1
Tissue
Tissue, unspecified
TROP1
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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