78221-9
IGH gene rearrangements [Presence] in Blood or Tissue by FISH
Active
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]
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.
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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 Get Info
- 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
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Reordenamientos del gen IGH: |
| es-MX | Spanish (Mexico) | Reordenamientos del gen IGH: |
| fr-FR | French (France) | IGH gène réarrangements: |
| it-IT | Italian (Italy) | Riarrangiamento del gene IGH: Synonyms: Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Riarrangiamenti del gene della catena pesante dell Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | IGH-genherschikking: Synonyms: IGH-gentranslocatie |
| tr-TR | Turkish (Turkey) | IGH geni yeniden düzenleme: Synonyms: Mevcut |
| zh-CN | Chinese (China) | IGH 基因重排: Synonyms: Fluorescent in situ hybridization; |
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