81852-6

LOINC 2.82

Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method

Chr 7q11.23 Del+Dup Bld/T

Definition

  • Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome.

Component

  • Chromosome region 7q11.23 deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DELDUP

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Amplification; Blood; Chr 7q11.23; Chr 7q11.23 deletion; Chr 7q11.23 deletion+duplication; Chromosom; Chromosomes; Cyto loc; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.DELDUP; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; Williams Beuren Syndrome

Index terms

  • Amplification
  • Blood
  • Chr 7q11.23
  • Chr 7q11.23 deletion
  • Chr 7q11.23 deletion+duplication
  • Chromosom
  • Chromosome region 7q11.23 deletion+duplication
  • Chromosomes
  • Cyto loc
  • Del
  • Del+Dup
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.DELDUP
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue
  • Williams Beuren Syndrome