66876-4

FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method

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Term Description

Percent premutation = premutation/(premutation+full mutation) band intensities

Part Description

LP129558-5 FMR1 gene premutation
Percent premutation is one of the tests ordered after more conventional Fragile X testing is positive. Mutation of the FMR1 gene which results in mental retardation mostly involve expansion of CGG repeats in the 5' untranslated region. Normally there are about 30 repeats, the full mutation generally involves over 200 repeats. Individuals may also have "premutation" with 55-200 repeats. The premutation state can be associated with certain disorders, and can potentially expand when passed to offspring, especially when passed by females. Mosaics with some cells having full mutation and some cells having premuation are common. The percent premuation is calculated as follows from band intensities on a Southern blot: (unmethylated premuation band intensity, generally 3.0k) / (sum of intensities of the unmethylated premutation band + full mutation bands). Source: Regenstrief LOINC

LOINC Names Get Info

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

Part Model Get Info

Component
FMR1 gene premutation/premutation+full mutation
LP286040-3
- Analyte
  FMR1 gene premutation/premutation+full mutation
  LP286040-3
  - Component Numerator
    FMR1 gene premutation
    LP129558-5
    - Component Numerator Core
      FMR1 gene premutation
      LP129558-5
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    premutation+full mutation
    LP129559-3
    - Component Denominator Core
      premutation+full mutation
      LP129559-3
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
NFr
LP6838-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
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

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen FMR1 premutace/premutace+plná mutace:Početní podíl:Časový bod:Krev:Kvantitativní:Molekulární genetika
el-GR	Greek (Greece)	Προμετάλλαξη γονιδίου FMR1/προμετάλλαξη+πλήρης μετάλλαξη:NFr:Pt:Αίμα:Qn:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT NFr Pt Qn Αίμα Γονίδιο Γονίδιο FMR1 Μοριακή γενετική Προμετάλλαξη γονιδίου FMR1 προμετάλλαξη+πλήρης μετάλλαξη
es-ES	Spanish (Spain)	Premutacion del Gen FMR1/Premutación+mutación completa:Fracción numérica:Punto temporal:Sangre:Qn:Genética molecular Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Premutación / premutación del gen FMR1 + mutación completa:Fracción numérica:Punto temporal:Sangre:Cuantitativo:Genética molecular
fr-FR	French (France)	FMR1 gène prémutation/prémutation+mutation complète:Fraction de nombres:Ponctuel:Sang:Numérique:Biologie moléculaire
it-IT	Italian (Italy)	FMR1, premutazione gene/premutazione+mutazione piena:NFr:Pt:Sangue:Qn:Molgen Synonyms: Frazione numerica Gene FMR1 Genetica molecolare Mutazione genica Patologia molecolare Premutazione gene FMR1 Punto nel tempo (episodio) Sangue
nl-NL	Dutch (Netherlands)	FMR1-gen premutatie/premutatie + volledige mutatie:getalsfractie:moment:bloed:kwantitatief:moleculair genetisch onderzoek Synonyms: FMR1 gen FMR1 gen premutatie molgen
pl-PL	Polish (Poland)	FMR1 gen premutacja/premutacja+pełna mutacja:frakcja liczbowa:punkt w czasie:krew:ilościowy:genetyka molekularna Synonyms: diagnostyka molekularna Gen FMR1;Gen zespołu łamliwego chromosomu X Premutacja genu FMR1
ru-RU	Russian (Russian Federation)	FMR1 ген премутация/премутация+полная мутация:КолДоля:ТчкВрм:Кр:Колич:МолГен Synonyms: Количественный Количество отношение Кровь Точка во времени;Момент
tr-TR	Turkish (Turkey)	FMR1 geni premutasyon/premutasyon+tammutasyon:SayFr:Zmlı:Kan:Kant:Molgen
zh-CN	Chinese (China)	FMR1 基因前突变/前突变+全突变: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

Unit	Source
%	Example UCUM Units

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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.