79419-8LOINC 2.82
PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
PMS2 gene Del+Dup + Full Mut Anl Bld/T
Definition
- The coding sequences of PMS2 are amplified by polymerase chain reaction and each PCR product (amplicon) then sequences bidirectionally using Sanger sequencing methodology. The multiple-ligation-probe amplification assay (MLPA) was performed to detect copy number variations (deletions and duplications) in the PMS2 gene. Exact breakpoints are not determined for any large deletions or duplications detected by this analysis.
Component
- 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; 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
- MLH4
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- PCR
- PMS2 gene deletion+duplication & full mutation analysis
- 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