Carnitine biosynthesis intermediates panel - Serum or Plasma   79285-3

LOINC Code


LOINC code79285-3
nameCarnitine biosynthesis intermediates panel - Serum or Plasma
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.
systemSer/Plas
    Ser  =  Serum
    Plas  =  Plasma
scale-
method

Additional Names

short nameCarnitine biosynthesis Panel SerPl

Basic Attributes

classPANEL.CHEM
type1  Laboratory
order vs. observationOrder

Panel Components

14286-9Carnitine free (C0) [Moles/volume] in Serum or Plasma
79328-1Trimethyllysine [Moles/volume] in Serum or Plasma
79308-3Gamma butyrobetaine [Moles/volume] in Serum or Plasma
79312-5Gamma butyrobetaine/Trimethyllysine [Molar ratio] in Serum or Plasma
79268-93-Hydroxytrimethyl-L-lysine [Moles/volume] in Serum or Plasma
79274-73-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in Serum or Plasma
79341-4Carnitine biosynthesis intermediates pattern [Interpretation] in Serum or Plasma Narrative

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 updated2.54
last change typeMIN  - change to field other than name

Related Names

Carnitine biosynthesis Panel
Carnitine.total
Chemistry
Pan
PANEL.CHEMISTRY
Panl
Pl
Plasma
Plsm
Pnl
Point in time
Random
SerP
SerPl
SerPlas
Serum
Serum or plasma
SR

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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