Version 2.77

Term Description

This term is used to report the mate pair sequencing results, preferably using a standardize nomenclature such as ISCN, for targeted chromosome analysis of neoplastic clones in blood or bone marrow specimens. Testing is performed in patients with acute myeloid leukemia (AML) or other myeloid malignancies when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Results provide diagnostic, prognostic, and therapeutic information for patient care.
Source: Regenstrief LOINC

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
Chromosome rearrangement
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Mate pair sequencing

Additional Names

Short Name
AML chromo analys Bld/Mar MPSeq
Display Name
Chromosome rearrangement Mate pair sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Chromosome rearrangement, Blood or tissue specimen

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamiento cromosómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación de pares de parejas
es-MX Spanish (Mexico) Reordenamiento cromosómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación de pares de compañeros
fr-FR French (France) Chromosome réarrangement:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage de paire de base
it-IT Italian (Italy) Riarrangiamento del cromosoma:Prid:Pt:Sangue/Tess:Nom:Mate pair, sequenziamento
Synonyms: Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 染色体重排:存在与否或特征标识:时间点:全血/组织:名义型:末端配对序列测定法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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 染色体重排（重新排列、重组）;染色体重新排列;染色体重组 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=94592-3