LP129558-5

FMR1 gene premutation

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Description

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

Basic Part Properties

Part Name

FMR1 gene premutation

Part Display Name

FMR1 gene premutation

Part Type

Component (Describes the core component or analyte measured)

Created On

2011-06-23

Construct for LOINC Short Name

FMR1 premutation

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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.