73749-4

LOINC 2.82

4p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal

4p16.3 Del Bld/T FISH

Definition

  • FISH studies are performed to detect a deletion on the short arm of chromosome 4 (4p16.3) in patients, primarily newborns, suspected of having Wolf-Hirschhorn syndrome (WHS). FISH signal pattern indicating a loss of 4p16.3 is consistent with a diagnosis of WHS.

Component

  • 4p16.3 chromosome deletion

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.DEL

Property

  • Prid

Scale

  • Nom

Method

  • FISH

Related names

  • Blood; Chromosom; Chromosomes; Del; Deletions; Fluorescent in situ hybridization; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELETIONS; Nominal; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Chromosom
  • Chromosomes
  • Del
  • Deletions
  • Fluorescent in situ hybridization
  • Genetics
  • Heredity
  • Heritable
  • Identity or presence
  • Inherited
  • Molecular pathology
  • MOLPATH
  • MOLPATH.DELETIONS
  • Nominal
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue