LP129555-1
FMR1 gene activation
Active
Description
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
Basic Part Properties
- Part Name
- FMR1 gene activation
- Part Display Name
- FMR1 gene activation
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2011-06-23
- Construct for LOINC Short Name
- FMR1 activation
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FMR1 基因激活 Synonyms: 脆性 X; |
| es-ES | Spanish (Spain) | Activación del Gen FMR1 |
| it-IT | Italian (Italy) | FMR1, attivazione gene Synonyms: Attivazione gene FMR1 |
| tr-TR | Turkish (Turkey) | FMR1 geni activation |
| ru-RU | Russian (Russian Federation) | FMR1 ген активация |
| nl-NL | Dutch (Netherlands) | FMR1-gen activatie Synonyms: FMR1 gen activatie |
| fr-FR | French (France) | FMR1 gène activation |
| pl-PL | Polish (Poland) | Gen FMR1 aktywacja Synonyms: Aktywacja genu FMR1 |
| el-GR | Greek (Greece) | Ενεργοποίηση γονιδίου FMR1 Synonyms: Ενεργοποίηση γονιδίου FMR1 |
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://