79288-7
LaboratoryCreatine and guanidinoacetate panel - Cerebral spinal fluid
Definition
Measurements of guanidinoacetate (GAA) and creatine (Cr) in cerebrospinal fluid (CSF) 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 panel
Property
-
Time Aspect
Pt
System
CSF
Scale Type
Qn
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
Cr and GAA Pnl CSF
Display Name
Creatine and guanidinoacetate panel (CSF)
Related Names
Frequently Asked Questions
What is LOINC code 79288-7?
LOINC code 79288-7 identifies "Creatine and guanidinoacetate panel - Cerebral spinal fluid". Measurements of guanidinoacetate (GAA) and creatine (Cr) in cerebrospinal fluid (CSF) 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 79288-7 measure?
This code measures Creatine & guanidinoacetate 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.