Version 2.78

Part Descriptions

LP190806-2   Cells.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] Source: National Center for Biotechnology Information (NCBI) Gene

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
Cells.IGH gene rearrangements/Cells counted
Property
NFr
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
FISH

Additional Names

Short Name
Cells.IGH rear/Cells cnt NFr Bld/T FISH
Display Name
Cells.IGH rearrangements/Cells counted FISH (Bld/Tiss)
Consumer Name Alpha Get Info
Cells.IGH Rearrangements/Cells Counted, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamientos del gen IGH/Contaje celular:Fracción numérica:Punto temporal:Sangre o tejido:Qn:Hibridación in situ fluoresente (FISH)
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Cells.IGH genes reordenamientos / Células contadas:Fracción numérica:Punto temporal:Sangre o tejido:Cuantitativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) IGH gène réarrangements/cellules comptées:Fraction de nombres:Ponctuel:Sang/Tissu:Numérique:FISH
it-IT Italian (Italy) Cellule.riarrangiamenti gene IGH/Cellule contate:NFr:Pt:Sangue/Tess:Qn:FISH
Synonyms: Frazione numerica Ibridazione in situ fluorescente (FISH) Patologia molecolare Punto nel tempo (episodio) Riarrangiamenti del gene della catena pesante dell Riarrangiamenti gene codificante per la catena pes Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) cellen.IGH-genherschikking/getelde cellen:getalsfractie:moment:bloed of weefsel:kwantitatief:FISH
Synonyms: cellen.IGH gen translocaties IGH-gentranslocatie
tr-TR Turkish (Turkey) Hücreler.IGH geni yeniden düzenleme/Hücreler sayılan:SayFr:Zmlı:Kan/Dk:Kant:FISH
zh-CN Chinese (China) 细胞.IGH 基因重排/已计数的细胞:计数型分数:时间点:全血/组织:定量型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 IGH 基因重排（重组） 全血或组织;血液/组织;血液或组织 分子病理学.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 分子病理学;分子病理学试验 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 所计数的细胞;计数细胞;所计数细胞;已计数细胞 所计数细胞;已计数过细胞;已计数细胞;已计过数细胞 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 细胞.IGH 基因重排（重组） 细胞含量;细胞性;细胞性质;细胞构成;细胞类 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit Source
% Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78236-7