73751-0

5p15.2 (5p-) chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal

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Term Description

FISH studies are performed to detect a deletion on chromosome 5p15.2. FISH signal pattern indicating a loss of the this region is consistent with a diagnosis of Cri-du-chat syndrome (5p- syndrome).
Source: Regenstrief LOINC

Part Descriptions

LP172694-4   5p15.2 chromosome
Cri-du-chat syndrome (5p- or 5p minus syndrome) is caused by a deletion of the end of the short (p) arm of chromosome 5. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Studies also show that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. Most cases of cri-du-chat syndrome are not inherited; the deletion occurs as a random or de novo event. About 10 percent of patients with 5p- inherit the chromosome abnormality from an unaffected parent who carries a balance chromosomal translocation, in which no genetic material is gained or lost. Source: Genetic Home Reference, National Library of Medicine, Cri-du-chat syndrome (5p-)

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component

5p15.2 chromosome deletion

Property

Prid

Time

Pt

System

Bld/Tiss

Scale

Nom

Method

FISH

Additional Names

Short Name

5p15.2 Del Bld/T FISH

Display Name

5p15.2 (5p-) chromosome del FISH Nom (Bld/Tiss)

Consumer Name Alpha Get Info

5p15.2 (5p-) chromosome deletion analysis, Blood or tissue specimen

Example Answer List: LL2482-9

Basic Attributes

Class

MOLPATH.DEL

Type

Laboratory

First Released

Version 2.44

Last Updated

Version 2.61

Order vs. Observation

Both

Language Variants Get Info

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

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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.