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Term Description

This test is based on sequencing and targeted analysis of specific variants . The testing depends largely upon the individual's ethnic background. A negative result may indicate a reduced carrier risk for some or all diseases being tested, this risk cannot be eliminated.

LOINC Names Get Info

Fully-Specified Name
SMA residual risk:Imp:Pt:Bld:Nar:Molgen
Long Common Name
SMA residual risk [Interpretation] in Blood by Molecular genetics method Narrative
Short Name
SMA residual risk Bld-Imp
Display Name
SMA residual risk Molgen Nar (Bld) [Interp]
Consumer Name Alpha Get Info
Interpretation of SMA residual risk test result, Blood

Part Model Get Info

  • Component
    SMA residual risk
    LP434721-9
    • Analyte
      SMA residual risk
      LP434721-9
      • Component Numerator
        SMA residual risk
        LP434721-9
        • Component Numerator Core
          SMA residual risk
          LP434721-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Bld
    LP7057-5
    • System Core
      Bld
      LP7057-5
    • Super System
      NULL
       
  • Scale
    Nar
    LP7749-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)SMA zbytkové riziko:Interpretace:Časový bod:Krev:Narativní:Molekulární genetika
el-GRGreek (Greece)Υπολειπόμενος κίνδυνος Νωτιαίας Μυϊκής Ατροφίας:Imp:Pt:Αίμα:Nar:Μοριακή γενετική
Synonyms: Imp MOLPATH MOLPATH.MUT Nar Pt Αίμα Μοριακή γενετική Υπολειπόμενος κίνδυνος Νωτιαίας Μυϊκής Ατροφίας
es-ESSpanish (Spain)Riesgo residual SMA:Impresión/interpretación del estudio:Punto temporal:Sangre:Narrativo:Genética molecular
fr-FRFrench (France)SMA risque résiduel:Interprétation:Ponctuel:Sang:Résultat textuel:Biologie moléculaire
it-ITItalian (Italy)SMA, rischio residuo:Imp:Pt:Sangue:Nar:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Mutazione genica Patologia molecolare Punto nel tempo (episodio) Rischio residuo di SMA Sangue
zh-CNChinese (China)SMA 残余风险:印象:时间点:全血:叙述型:分子遗传学类实验室方法
Synonyms: SMA（脊髓性肌萎缩、脊髓性肌萎缩症、脊髓性肌肉萎缩症、Spinal muscular atrophy）残余风险（剩余风险、余值风险、残存风险） 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 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=101538-7