79339-8
LaboratoryCarnitine biosynthesis intermediates pattern newborn screen interpretation
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 pattern
Property
Imp
Time Aspect
Pt
System
Bld.dot
Scale Type
Nar
Method Type
N/A
Details
Class
CHEM
Order/Observation
Observation
Short Name
Carnitine biosynthesis pattern DBS-Imp
Display Name
Carnitine biosynthesis intermediates pattern Nar (DBS) [Interp]
Related Names
Frequently Asked Questions
What is LOINC code 79339-8?
LOINC code 79339-8 identifies "Carnitine biosynthesis intermediates pattern newborn screen interpretation". 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 79339-8 measure?
This code measures Carnitine biosynthesis intermediates pattern in Bld.dot. It belongs to the 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.