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

MSH2 DelDup+Full EPCAM 8+9 DelDup Bld/T

Definition

This 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.

MSH2 gene deletion+duplication & full mutation analysis & EPCAM gene exons 8 & 9 deletion+duplication

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

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
MSH2 gene deletion+duplication & full mutation analysis & EPCAM gene exons 8 & 9 deletion+duplication
Mut
Mutations
mutS homolog 2
PCR

9 further terms