Version 2.78

Term Description

This term was created for, but is not limited in use to, the Integrated Genetics MaterniT GENOME panel, which analyzes circulating cell-free DNA extracted from maternal plasma for fetal chromosome 13, 18 and 21 aneuploidies as well as select microdeletions using whole genome sequencing.
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

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
92901-8 Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing
Indent77011-5 Fetal Chromosome 21 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Indent77012-3 Fetal Chromosome 18 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Indent77013-1 Fetal Chromosome 13 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Indent77021-4 Fetal Y chromosome [Presence] based on Plasma cell-free DNA by Sequencing
Indent77020-6 Fetal Y chromosome [Interpretation] based on Plasma cell-free DNA by Sequencing
Indent79212-7 Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing
Indent92903-4 Fetal Chromosome region 15q11 deletion [Presence] based on Plasma cell-free DNA by Sequencing
Indent92899-4 Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by Sequencing
Indent92902-6 Fetal Chromosome region 8q24 deletion [Presence] based on Plasma cell-free DNA by Sequencing
Indent92900-0 Fetal Chromosome region 4p16 deletion [Presence] based on Plasma cell-free DNA by Sequencing

Fully-Specified Name

Component
Noninvasive prenatal fetal aneuploidy and microdeletion panel
Property
-
Time
Pt
System
Plas.cfDNA
Scale
-
Method
Sequencing

Additional Names

Short Name
NIP fet aneu microdel pnl Plas.cfDNA Seq
Display Name
Noninvasive prenatal fetal aneuploidy and microdel panel Sequencing (cfDNA)
Consumer Name Alpha Get Info
Fetal Noninvasive prenatal fetal aneuploidy and Microdel panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.70
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel prenatal no invasivo de aneuploidía y microdeleción fetal:Propiedades mixtas (sólo paneles):Punto temporal:ADN en plasma libre de células:-:Secuenciación
es-MX Spanish (Mexico) Panel de microdeleción y aneuploidía fetal prenatal no invasiva:-:Punto temporal:ADN libre de células plasmáticas:-:Secuenciación
fr-FR French (France) Aneuploïdie et microdélétion foetale prénatale non invasive panel:-:Ponctuel:Plasma avec ADN libre circulant:-:Séquençage
it-IT Italian (Italy) Microdelezione e aneuploidia fetale prenatale non invasiva, panel:-:Pt:Plasma.DNA libero circolante:-:Sequenziamento
Synonyms: DNA libero circolante nel plasma Panel microdelezione e aneuploidia fetale prenatale non invasiva Patologia molecolare Plasma Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 无创性产前胎儿非整倍体性与染色体微缺失组套:-:时间点:血浆.cfDNA:-:序列测定
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 序列分析;测序 无创性（无创型、无创、非侵入性）产前胎儿非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）与染色体微缺失（微缺失、微细缺失、微缺、微缺损、微删除、微丢失）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92901-8
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/92901-8