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Term Description

Activation ratio = normal unmethylated/(normal unmethylated+normal methylated) band intensities

Part Description

LP129555-1   FMR1 gene activation
The "Activation Ratio" is one of the tests ordered after more conventional Fragile X testing is positive. The test is relevant only in females, where each cell has 2 copies of the X chromosome, only one of which is active. It is generally performed on full mutant females. The value is historically reported as a fraction between 0 and 1, and it represents the *proportion* of all the normal FMR1 gene copies that are located on the ACTIVE X chromosome. Another way of saying this is that it is the proportion of all cells where the normal copy of the FMR1 gene is located on the active X chromosome. The value is determined by the following formula from band intensities on a Southern blot: (normal unmethylated band intensity) / (sum of band intensities of the normal unmethylated + normal methylated bands)...that is, 2.8kband/(2.8k + 5.0k band). The clinical relevance is that the higher the activation ratio, the more FMR1 protein is produced, so higher activation ratio is associated with better cognition. Although the test is called a "Ratio", the LOINC property is "NFr" because the value represents the fraction of cells where the normal FMR1 is active. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
FMR1 gene activation:NFr:Pt:Bld:Qn:Molgen
Long Common Name
FMR1 gene activation in Blood by Molecular genetics method
Short Name
FMR1 activation NFr Bld
Display Name
FMR1 gene activation Molgen (Bld)
Consumer Name Alpha Get Info
FMR1 gene activation, Blood

Part Model Get Info

  • Component
    FMR1 gene activation
    LP129555-1
    • Analyte
      FMR1 gene activation
      LP129555-1
      • Component Numerator
        FMR1 gene activation
        LP129555-1
        • Component Numerator Core
          FMR1 gene activation
          LP129555-1
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    NFr
    LP6838-9
  • Time
    Pt
    LP6960-1
  • System
    Bld
    LP7057-5
    • System Core
      Bld
      LP7057-5
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.70 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FMR1 aktivace:Početní podíl:Časový bod:Krev:Kvantitativní:Molekulární genetika
el-GRGreek (Greece)Ενεργοποίηση γονιδίου FMR1:NFr:Pt:Αίμα:Qn:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT NFr Pt Qn Αίμα Γονίδιο Γονίδιο FMR1 Ενεργοποίηση γονιδίου FMR1 Μοριακή γενετική
es-ESSpanish (Spain)Activación del Gen FMR1:Fracción numérica:Punto temporal:Sangre:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Activación del gen FMR1:Fracción numérica:Punto temporal:Sangre:Cuantitativo:Genética molecular
fr-FRFrench (France)FMR1 gène activation:Fraction de nombres:Ponctuel:Sang:Numérique:Biologie moléculaire
it-ITItalian (Italy)FMR1, attivazione gene:NFr:Pt:Sangue:Qn:Molgen
Synonyms: Attivazione gene FMR1 Frazione numerica Gene FMR1 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NLDutch (Netherlands)FMR1-gen activatie:getalsfractie:moment:bloed:kwantitatief:moleculair genetisch onderzoek
Synonyms: FMR1 gen FMR1 gen activatie molgen
pl-PLPolish (Poland)Gen FMR1 aktywacja:frakcja liczbowa:punkt w czasie:krew:ilościowy:genetyka molekularna
Synonyms: Aktywacja genu FMR1 diagnostyka molekularna Gen FMR1;Gen zespołu łamliwego chromosomu X
ru-RURussian (Russian Federation)FMR1 ген активация:КолДоля:ТчкВрм:Кр:Колич:МолГен
Synonyms: Количественный Количество отношение Кровь Точка во времени;Момент
tr-TRTurkish (Turkey)FMR1 geni activation:SayFr:Zmlı:Kan:Kant:Molgen
zh-CNChinese (China)FMR1 基因激活:计数型分数:时间点:全血:定量型:分子遗传学类实验室方法
Synonyms: 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

UnitSource
%Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=66874-9