79290-3
LaboratoryCreatine, guanidinoacetate and creatinine panel - Urine
Definition
Measurements of guanidinoacetate (GAA) and creatine (Cr) in urine are performed for biochemical diagnosis of guanidinoacetate methyltransferase (GAMT) deficiency, an inherited metabolic disorder of creatine metabolism that is characterized by mental retardation, developmental delay or regression, mental retardation, expressive and cognitive speech delay, and intractable seizures and movement disturbances.[OMIM: 612736] [PMID: 15234334]
LOINC 6-Axis Classification
Component
Creatine, guanidinoacetate & creatinine panel
Property
-
Time Aspect
Pt
System
Urine
Scale Type
Qn
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
Cr, GAA and Creat Pnl Ur
Display Name
Creatine, guanidinoacetate and creatinine panel (U)
Related Names
Frequently Asked Questions
What is LOINC code 79290-3?
LOINC code 79290-3 identifies "Creatine, guanidinoacetate and creatinine panel - Urine". Measurements of guanidinoacetate (GAA) and creatine (Cr) in urine are performed for biochemical diagnosis of guanidinoacetate methyltransferase (GAMT) deficiency, an inherited metabolic disorder of creatine metabolism that is characterized by mental retardation, developmental delay or regression, mental retardation, expressive and cognitive speech delay, and intractable seizures and movement disturbances.[OMIM: 612736] [PMID: 15234334]
What does 79290-3 measure?
This code measures Creatine, guanidinoacetate & creatinine panel in Urine. 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.