98039-1

Preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue by Molecular genetics method

Active

Term Description

Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. Common conditions screened for include cystic fibrosis (CF, CFTR gene), Duchenne/Becker muscular dystrophy (DMD/BMD, DMD gene), fragile X syndrome (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).

LOINC Names Get Info

Fully-Specified Name: Preconception &or prenatal carrier screening multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name: Preconception AndOr prenatal carrier screening multigene analysis in Blood or Tissue by Molecular genetics method
Short Name: Reproductive Carrier Multigene Anl Bld/T
Display Name: Preconception/Prenatal carrier screening multigene analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: Preconception/Prenatal carrier screening multigene analysis, Blood or tissue specimen

Part Model Get Info

Component
Preconception &or prenatal carrier screening multigene analysis
LP426473-7
- Analyte
  Preconception &or prenatal carrier screening multigene analysis
  LP426473-7
  - Component Numerator
    Preconception &or prenatal carrier screening multigene analysis
    LP426473-7
    - Component Numerator Core
      Preconception &or prenatal carrier screening multigene analysis
      LP426473-7
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.70
Last Updated: Version 2.70 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
ar-JO	Arabic (Jordan)	فحص مل قبل الحمل أو ما قبل الولادة للكشف عن حاملي الأمراض الوراثية " فحص متعدد الجينات " في الدم أو الأنسجة ( بتقنية الوراثة الجزيئية )
cs-CZ	Czech (Czechia)	Prekoncepční a/nebo prenatální screening přenašečství multigenová analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Πολυγονιδιακή ανάλυση πριν από τη σύλληψη και/ή προγεννητικός έλεγχος φορέα:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Εύρεση Ιστός Μοριακή γενετική Πολυγονιδιακή ανάλυση πριν από τη σύλληψη και/ή προγεννητικός έλεγχος φορέα
es-ES	Spanish (Spain)	Análisis multigénico de detección de portadores antes de la concepción o prenatal:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis multigénico de detección de portadores antes de la concepción o prenatal:Encontrar:Punto temporal:Bld / Tiss:Documento:Molgen
fr-FR	French (France)	Analyse multigénique d'un dépistage pré-conception et/ou prénatal:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	Analisi multigenica di screening prenatale &o pre-concepimento:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Analisi multigenica di screening prenatale e/o pre-concepimento Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PL	Polish (Poland)	Analiza wielogenowa prekoncepcja &lub prenatalne badania przesiewowe nosicielstwa:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna Synonyms: diagnostyka molekularna
zh-CN	Chinese (China)	孕前和/或产前携带者筛查多基因分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: Asympt SCN 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组织;血液/组织;血液或组织分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应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;结论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验未作说明的组织;组织;组织 & 涂片筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.