Carnitine biosynthesis intermediates panel - DBS   79284-6

LOINC Code


LOINC code79284-6
nameCarnitine biosynthesis intermediates panel - DBS
descriptionThe carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.
statusACTIVE

Fully-Specified Name

componentCarnitine biosynthesis intermediates panel
property-
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.dot  =  Blood filter paper
scale-
method

Additional Names

short nameCarnitine biosynthesis Panel DBS

Basic Attributes

classPANEL.CHEM
type1  Laboratory
order vs. observationOrder

Panel Components

38481-8Carnitine free (C0) [Moles/volume] in DBS
79330-7Trimethyllysine [Moles/volume] in DBS
79310-9Gamma butyrobetaine [Moles/volume] in DBS
79314-1Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS
79270-53-Hydroxytrimethyl-L-lysine [Moles/volume] in DBS
79273-93-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in DBS
79339-8Carnitine biosynthesis intermediates pattern newborn screen interpretation

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 updated2.61
last change typeMIN  - change to field other than name

Related Names

Blood
Carnitine biosynthesis Panel
Carnitine.total
Chemistry
DBS
Dried blood spot
Filter paper
FP
Pan
PANEL.CHEMISTRY
Panl
Pnl
Point in time
Random
WB
Whole blood

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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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