79418-0

LOINC 2.82

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

EPCAM Exons 8 + 9 Del+Dup Bld/T 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.

Component

  • EPCAM gene exons 8 & 9 deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DELDUP

Property

  • Find

Scale

  • Doc

Method

  • MLPA

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

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Deletions
  • DIAR5
  • Document
  • Dp
  • EGP-2
  • EGP314
  • EGP40
  • EPCAM Exons 8 + 9
  • EPCAM gene exons 8 & 9 deletion+duplication
  • 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