94587-3
Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing
Active
Term Description
This term is used for the order & overall report for chromosome analysis by sequencing methods, such as mate pair sequencing, for the detection of germline (congenital) chromosome abnormalities in amniotic fluid or chorionic villus sampling (CVS) specimens. 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. 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
- Germline disorder chromosome analysis
- Property
- Find
- Time
- Pt
- System
- Amnio fld/CVS
- Scale
- Doc
- Method
- Mate pair sequencing
Additional Names
- Short Name
- Germline chromo analy Amn/CVS MPSeq
- Display Name
- Germline disorder chromosome analysis Mate pair sequencing Doc (Amnio fld/CVS)
- Consumer Name Alpha Get Info
- Germline disorder chromosome analysis, Amnio Fld/CVS
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) | Análisis cromosómico del trastorno de la línea germinal: |
es-MX | Spanish (Mexico) | Análisis cromosómico del trastorno de la línea germinal: |
fr-FR | French (France) | Chromosome analyse trouble germinal: |
it-IT | Italian (Italy) | Disturbo della linea germinale, analisi cromosomica: Synonyms: Analisi cromosomica disturbo della linea germinale Campione di villi coriali Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio) |
zh-CN | Chinese (China) | 胚系疾病染色体分析: Synonyms: 临床文档型; |
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