LOINC
Version 2.72

78221-9IGH gene rearrangements [Presence] in Blood or Tissue by FISHActive

Term Description

This term was created for, but is not limited in use to, the Vysis LSI IGH Dual Color, Break Apart Rearrangement Probe Kit, which is intended for detecting rearrangements in the immunoglobulin heavy chain (IGH) locus on chromosome region 14q32.
Source: Regenstrief LOINC

Part Descriptions

LP190358-4   IGH gene rearrangements
The IGH gene (immunoglobulin heavy locus) [HGNC Gene ID:5477] is located on chromosome 14q32.33. Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Oct 2013] [NCBI Gene ID:3492] Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: National Center for Biotechnology Information (NCBI) Gene, FISH

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
IGH gene rearrangements
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
FISH

Additional Names

Short Name
IGH gene rearrange Bld/T Ql FISH
Display Name
IGH rearrangements FISH Ql (Bld/Tiss)
Consumer Name Alpha
IGH rearrangements, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
IGH 基因重排:存在情况或阈值:时间点:全血/组织:序数型:FISH
fr-FRFrench (France)
IGH gène réarrangements:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:FISH
it-ITItalian (Italy)
Riarrangiamento del gene IGH:PrThr:Pt:Sangue/Tess:Ord:FISH
es-MXSpanish (Mexico)
Reordenamientos del gen IGH:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Hibridación fluorescente in situ (FISH)
es-ESSpanish (Spain)
Reordenamientos del gen IGH:PrThr:Punto temporal:Sangre o tejido:Ord:Hibridación in situ fluoresente (FISH)
tr-TRTurkish (Turkey)
IGH geni yeniden düzenleme:MevcEşik:Zmlı:Kan/Dk:Srl:FISH

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78221-9