81873-2

LOINC 2.82

Chromosome region Xp22.33 AndOr Yp11.32 deletion and duplication mutation analysis in Blood or Tissue by MLPA

Xp22.33 +or Yp11.32 Del+Dup Bld/T MLPA

Definition

  • Detection of deletions or duplications in the Xp22.33 and Yp11.32 regions of the sex chromosomes, which contain the pseudoautosomal region 1 (PAR1) and SHOX gene, by MLPA analysis. This term was created for, but not limited in use to, the submitter's kit, SALSA MLPA P018 SHOX probemix.

Component

  • Chromosome region Xp22.33 &or Yp11.32 deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DELDUP

Property

  • Find

Scale

  • Doc

Method

  • MLPA

Related names

  • Amplification; Blood; Chr Xp22.33 +or Yp11.32 deletion+duplication; Chromosom; Chromosomes; Cyto loc; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELDUP; Point in time; Random; SHOX; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; Xp22.33 +or Yp11.32

Index terms

  • Amplification
  • Blood
  • Chr Xp22.33 +or Yp11.32 deletion+duplication
  • Chromosom
  • Chromosome region Xp22.33 &or Yp11.32 deletion+duplication
  • Chromosomes
  • Cyto loc
  • Del
  • Del+Dup
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular pathology
  • MOLPATH
  • MOLPATH.DELDUP
  • Point in time
  • Random
  • SHOX
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue
  • Xp22.33 +or Yp11.32