79417-2

LOINC 2.82

PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

PMS2 gene Del+Dup Bld/T MLPA

Definition

  • Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.

Component

  • PMS2 gene deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DELDUP

Property

  • Find

Scale

  • Doc

Method

  • MLPA

Related names

  • Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Hereditary Nonpolyposis Colorectal Cancer; Heredity; Heritable; HNPCC4; Inherited; Lynch syndrome; MLH4; Molecular pathology; MOLPATH; MOLPATH.DELDUP; PMS2CL; PMSL2; Point in time; Primitive Neuroectodermal Tumor; Random; Tissue; Tissue, unspecified; Turcot syndrome; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • Genetics
  • Hereditary Nonpolyposis Colorectal Cancer
  • Heredity
  • Heritable
  • HNPCC4
  • Inherited
  • Lynch syndrome
  • MLH4
  • Molecular pathology
  • MOLPATH
  • MOLPATH.DELDUP
  • PMS2 gene deletion+duplication
  • PMS2CL
  • PMSL2
  • Point in time
  • Primitive Neuroectodermal Tumor
  • Random
  • Tissue
  • Tissue, unspecified
  • Turcot syndrome
  • WB
  • Whole blood
  • Whole blood or Tissue