81763-5
LaboratoryPhytanate and pristanate panel - Serum or Plasma
Definition
This panel includes results for phytanate and pristanate to investigate various peroxisomal disorders, including Zellweggers syndrome, Refsum disease, and adrenomyleoneuropathy, in which there is a defect in the metabolism or processing of long chain fatty acids. Symptoms range from life-threatening acute adrenal failure and severe hypotonia in neonates to progressive neurological deterioration and peripheral neuropathy in adults.
LOINC 6-Axis Classification
Component
Phytanate & pristanate panel
Property
-
Time Aspect
Pt
System
Ser/Plas
Scale Type
Qn
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
Phytanate + pristanate Pnl SerPl
Display Name
Phytanate and pristanate panel
Related Names
Frequently Asked Questions
What is LOINC code 81763-5?
LOINC code 81763-5 identifies "Phytanate and pristanate panel - Serum or Plasma". This panel includes results for phytanate and pristanate to investigate various peroxisomal disorders, including Zellweggers syndrome, Refsum disease, and adrenomyleoneuropathy, in which there is a defect in the metabolism or processing of long chain fatty acids. Symptoms range from life-threatening acute adrenal failure and severe hypotonia in neonates to progressive neurological deterioration and peripheral neuropathy in adults.
What does 81763-5 measure?
This code measures Phytanate & pristanate panel in Ser/Plas. 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.