Version 2.80

Term Description

This term is used for the order & overall chromosome analysis report for identification of neoplastic clones in blood or bone marrow specimens by mate pair sequencing in patient's with myeloid malignancies, such as acute myeloid leukemia (AML). Results may include the overall findings, the result in ISCN format, testing methods, interpretation, recommendations, and references. Testing is performed when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance.

Part Descriptions

LP417552-9   Mate pair sequencing
Mate pair sequencing is a next generation, whole genome sequencing test that may be performed in conjunction with or when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Mate pair sequencing is used to determine the size, precise breakpoints, genes involved, and any other attribute of the abnormality that is not detectable by other methods. Large DNA fragments (2-5Kb) are sequenced by paired-end sequencing through the use of a modified library preparation. The longer fragments facilitate identifying breakpoint junction locations with lower base coverage. Results provide diagnostic, prognostic, and therapeutic information for patient care. PMID: 29726617 PMID: 24105367 Source: Regenstrief LOINC

LP417552-9   Mate pair sequencing
Mate pair sequencing is a next generation, whole genome sequencing test that may be performed in conjunction with or when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Mate pair sequencing is used to determine the size, precise breakpoints, genes involved, and any other attribute of the abnormality that is not detectable by other methods. Large DNA fragments (2-5Kb) are sequenced by paired-end sequencing through the use of a modified library preparation. The longer fragments facilitate identifying breakpoint junction locations with lower base coverage. Results provide diagnostic, prognostic, and therapeutic information for patient care. PMID: 29726617 PMID: 24105367 Source: Regenstrief LOINC

Fully-Specified Name

Component
Myeloid neoplasm chromosome analysis
Property
Find
Time
Pt
System
Bld/Bone mar
Scale
Doc
Method
Mate pair sequencing

Additional Names

Long Common Name
Myeloid neoplasm chromosome analysis in Blood or Marrow by Mate pair sequencing
Short Name
Myeloid neoplasm chr analy Bld/Mar MPSeq
Display Name
Myeloid neoplasm chromosome analysis Mate pair sequencing Doc (Bld/BM)
Consumer Name Alpha Get Info
Myeloid neoplasm chromosome analysis, Blood Or Bone marrow

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Ανάλυση χρωμοσωμάτων μυελοειδούς νεοπλάσματος:Εύρεση:Pt:Αίμα/Μυελός των οστών:Doc:Αλληλούχηση ζεύγους συντρόφου
Synonyms: Ανάλυση χρωμοσωμάτων Ανάλυση χρωμοσωμάτων μυελοειδούς νεοπλάσματος Εύρεση Χρωμόσωμα
es-ES Spanish (Spain) Análisis cromosómico de neoplasias mieloides:Hallazgo:Punto temporal:Sangre o Médula osea:Doc:Secuenciación de pares de parejas
es-MX Spanish (Mexico) Análisis cromosómico de neoplasias mieloides:Hallazgo:Punto temporal:Sangre o Médula:Documento:Secuenciación de pares de compañeros
fr-FR French (France) Chromosome analyse néoplasie myéloïde:Recherche:Ponctuel:Sang/Moelle osseuse:Document:Séquençage de paire de base
it-IT Italian (Italy) Analisi cromosomica del neoplasma mieloide:Osservazione:Pt:Sangue/Mid os:Doc:Mate pair, sequenziamento
Synonyms: Midollo osseo Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Midollo
zh-CN Chinese (China) 髓系肿瘤染色体分析:发现:时间点:全血/骨髓:文档型:末端配对序列测定法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或骨髓;血液/骨髓;血液或骨髓 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 序列分析;测序 时刻;随机;随意;瞬间 末端配对测序法;MP;双端测序;双端配对测序 染色体二体型+染色体三体型 由骨髓而来的 血;血液 骨骼;骨头 骨髓状的 骨髓的 髓 髓样 髓样的 髓系的 髓系肿瘤（髓系新生物、骨髓样新生物、髓样肿瘤、髓系肿瘤）染色体分析

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94588-1