Version 2.78

Term Description

This profile evaluates for hereditary (congenital) causes of dyserythropoietic anemia
Source: Regenstrief LOINC

Part Description

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

Fully-Specified Name

Component
Dyserythropoietic anemia multigene analysis
Property
Find
Time
Pt
System
XXX
Scale
Doc
Method
Sequencing

Additional Names

Short Name
Dyserythropoietic anemia multi Spec Seq
Display Name
Dyserythropoietic anemia multigene analysis Sequencing Doc (Specimen)
Consumer Name Alpha Get Info
Dyserythropoietic anemia multigene analysis, Specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis multigénico de la anemia diseritropoyética.:Hallazgo:Punto temporal:XXX:Doc:Secuenciación
it-IT Italian (Italy) Analisi multigenica dell'anemia diseritropoietica:Osservazione:Pt:XXX:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) multigen-analyse van dyserytropoëtische anemie:bevinding:moment:XXX:document:sequencing
Synonyms: CDA

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=103734-0