Version 2.77

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. 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
4q12 chromosome region rearrangements
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
FISH

Additional Names

Short Name
4q12 rearrange Bld/T FISH-Imp
Display Name
4q12 chromosome region rearrangements FISH Nar (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Interpretation of 4q12 chromosome region rearrangements test result, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14754

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) reordenamientos cromosoma 4q12:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Reordenamientos de la región del cromosoma 4q12:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Narrativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome région 4q12 réarrangements:Interprétation:Ponctuel:Sang/Tissu:Résultat textuel:FISH
it-IT Italian (Italy) Riorganizzazioni della regione cromosomica 4q12:Imp:Pt:Sangue/Tess:Nar:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) 4q12-chromosoomgebied translocaties:interpretatie:moment:bloed of weefsel:tekstueel:FISH
Synonyms: 4q12-chromosoom gebied translocaties
tr-TR Turkish (Turkey) 4q12 Kromozom bölgesi yeniden düzenleme:İzlnm:Zmlı:Kan/Dk:Öykü:FISH
zh-CN Chinese (China) 4q12 染色体区域重排:印象:时间点:全血/组织:叙述型:FISH
Synonyms: 4q12 染色体区域（染色体部位、染色体区、染色体区带、染色体部）重排 Fluorescent in situ hybridization;荧光原位杂交 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 区;地区;局部 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 染色体二体型+染色体三体型 染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部） 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78206-0