LP129556-9

FMR1 gene methylation

Active

Description

Percent methylation is one of the tests ordered after more conventional Fragile X testing is positive. This test is performed only on full mutation patients, and is more frequently requested in males. The value is traditionally reported as a percent, and it represents the fraction of all full mutation bands that are methylated. Effectively, it represents the proportion of the patient's cells that would not be able to make protein. Clinically, higher % methylation results in lower levels of protein and, therefore, decreased cognitive ability. The calculation is done from band intensities on a Southern blot as follows: (methylated full mutation band intensities) / (sum of intensities of the methylated full mutation bands + unmethylated full mutation bands). Source: Regenstrief LOINC

Basic Part Properties

Part Name

FMR1 gene methylation

Part Display Name

FMR1 gene methylation

Part Type

Component (Describes the core component or analyte measured)

Created On

2011-06-23

Construct for LOINC Short Name

FMR1 methylation

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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.