79286-1

LOINC Code


LOINC code79286-1
name
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.
systemCSF  =  Cerebral spinal fluid
scale-
method

Additional Names

short nameCarnitine biosynthesis Panel; Carnitine.total; Cerebral spinal fluid; Cerebrospinal Fl; Chemistry; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; Random; Spinal Fl; Spinal Fld; Spinal Flu; Spinal Fluid

Basic Attributes

classPANEL.CHEM
type1  Laboratory
order vs. observationCarnitine biosy

Panel Components

53072-5
79329-9
79309-1
79315-8
79269-7
79272-1
79340-6

History/Usage

first released
last updated2.83
last change typeMIN  - change to field other than name

Related Names



Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, 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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