79286-1
LaboratoryCarnitine biosynthesis intermediates panel - Cerebral spinal fluid
Definition
The 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.
LOINC 6-Axis Classification
Component
Carnitine biosynthesis intermediates panel
Property
-
Time Aspect
Pt
System
CSF
Scale Type
-
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
Carnitine biosynthesis Panel CSF
Display Name
Carnitine biosynthesis intermediates panel (CSF)
Related Names
Frequently Asked Questions
What is LOINC code 79286-1?
LOINC code 79286-1 identifies "Carnitine biosynthesis intermediates panel - Cerebral spinal fluid". The 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.
What does 79286-1 measure?
This code measures Carnitine biosynthesis intermediates panel in CSF. It belongs to the PANEL.CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.