78201-1
4q12 chromosome region rearrangements [Identifier] in Blood or Tissue by FISH Nominal
Active
Term Description
This term was created for, but is not limited in use to, the Vysis 4q12 Tri-Color Rearrangement FISH Probe Kit, which is intended to detect rearrangements in chromosome 4q12 involving the FIP1L1-PDGFRA region.
Source: Regenstrief LOINC
Part Descriptions
LP189752-1 4q12 chromosome region rearrangements
Chromosome region 4q12 rearrangements are associated with myeloid and lymphoid neoplasms due to disruption of the PDGFRA and/or FGFR1 genes. Patients with rearrangement(s) involving PDGFRA most commonly present with chronic eosinophilic leukemia but also can present as acute myeloid leukemia (AML) and/or T-lymphoblastic leukemia/lymphoma (T-ALL). Patients with FGFR1 involvement have various presentations including AML, T- or B-lymphoblastic leukemia/lymphoma (B-ALL), or a mixed phenotype acute leukemia. Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis. PMID: 23489324
Source: Regenstrief LOINC
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
- 4q12 chromosome region rearrangements
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- FISH
Additional Names
- Short Name
- 4q12 rearrange Bld/T FISH
- Display Name
- 4q12 chromosome region rearrangements FISH Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- 4q12 chromosome region rearrangements, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.REARRANGE
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | reordenamientos cromosoma 4q12: |
| es-MX | Spanish (Mexico) | Reordenamientos de la región del cromosoma 4q12: |
| fr-FR | French (France) | Chromosome région 4q12 réarrangements: |
| it-IT | Italian (Italy) | Riorganizzazioni della regione cromosomica 4q12: Synonyms: Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | 4q12-chromosoomgebied translocaties: Synonyms: 4q12-chromosoom gebied translocaties |
| pl-PL | Polish (Poland) | Rearanżacja regionu chromosomu 4q12: |
| tr-TR | Turkish (Turkey) | 4q12 Kromozom bölgesi yeniden düzenleme: |
| zh-CN | Chinese (China) | 4q12 染色体区域重排: Synonyms: 4q12 染色体区域（染色体部位、 |
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