79418-0
LaboratoryEPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by MLPA
Definition
Multiple-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.
LOINC 6-Axis Classification
Component
EPCAM gene exons 8 & 9 deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
MLPA
Details
Class
MOLPATH.DELDUP
Order/Observation
Both
Short Name
EPCAM Exons 8 + 9 Del+Dup Bld/T MLPA
Display Name
EPCAM gene exons 8 and 9 del and dup mutation analysis MLPA Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 79418-0?
LOINC code 79418-0 identifies "EPCAM gene exons 8 and 9 deletion and duplication mutation analysis in Blood or Tissue by MLPA". Multiple-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.
What does 79418-0 measure?
This code measures EPCAM gene exons 8 & 9 deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.DELDUP class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.