79570-8LOINC 2.82
MLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
MLH1+MSH2+MSH6+PMS2 gn Del+Dup+Ful M
Definition
- Gene mutations, deletion and duplication analysis is performed to confirm a clinical diagnosis of Hereditary nonpolyposis colorectal cancer (HNPCC). Genes known to cause HNPCC, including MLH1, MSH2, MSH6 and PMS2, may be amplified by PCR methods and sequenced. Detection of copy number variations (deletions and duplications) may be performed by multiple-ligation-probe amplification assay (MLPA).
Component
- MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Hereditary Nonpolyposis Colorectal Cancer; HNPCC4; Lynch syndrome; MLH1+MSH2+MSH6+PMS2 del+dup; MLH4; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PMS2CL; PMSL2; Point in time; Primitive Neuroectodermal Tumor; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; Turcot syndrome; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Hereditary Nonpolyposis Colorectal Cancer
- HNPCC4
- Lynch syndrome
- MLH1+MSH2+MSH6+PMS2 del+dup
- MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & full mutation analysis
- MLH4
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- PCR
- PMS2CL
- PMSL2
- Point in time
- Primitive Neuroectodermal Tumor
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- Turcot syndrome
- WB
- Whole blood
- Whole blood or Tissue