Version 2.78

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] 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
IGH gene rearrangements
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
FISH

Additional Names

Short Name
IGH gene rearrange Bld/T FISH-Imp
Display Name
IGH rearrangements FISH Nar (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Interpretation of IGH rearrangements test result, 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:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos del gen IGH:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) IGH gène réarrangements:Interprétation:Ponctuel:Sang/Tissu:Résultat textuel:FISH
it-IT Italian (Italy) Riarrangiamento del gene IGH:Imp:Pt:Sangue/Tess:Nar:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Riarrangiamenti del gene della catena pesante dell Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) IGH-genherschikking:interpretatie:moment:bloed of weefsel:tekstueel:FISH
Synonyms: IGH-gentranslocatie
tr-TR Turkish (Turkey) IGH geni yeniden düzenleme:İzlnm:Zmlı:Kan/Dk:Öykü:FISH
zh-CN Chinese (China) IGH 基因重排:印象:时间点:全血/组织:叙述型: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 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78228-4