FMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method   66876-4

LOINC Code


LOINC code66876-4
nameFMR1 gene premutation/premutation+full mutation in Blood by Molecular genetics method
descriptionPercent premutation = premutation/(premutation+full mutation) band intensities
statusACTIVE

Fully-Specified Name

componentFMR1 gene premutation/premutation+full mutation
propertyNFr  =  Number Fraction
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld  =  Whole blood
scaleQn  =  Quantitative:  The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameFMR1 premutation NFr Bld

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationObservation
example UCUM units%
The Unified Code for Units of Measure (UCUM) is a code system intended to include all units of measures being contemporarily used in international science, engineering, and business (www.unitsofmeasure.org)
example unit%

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.70
last change typeMIN  - change to field other than name

Related Names

Blood
FMR1 premutation
FMRP
Fragile X
Fragile X mental retardation 1
Fragile X syndrome
FRAXA
Genetics
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Number fraction
PCR
Percent
POF
POF1
Point in time
QNT
Quan
Quant
Quantitative
Random
WB
Whole blood

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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.

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