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94600: Creatine Biosynthesis Disorders Panel, Urine Print View
Guanidinoacetate LC/MS/MS    nmol/mL 
Creatine LC/MS/MS    nmol/mL 
Creatinine LC/MS/MS    nmol/mL 
Creatine/Creatinine LC/MS/MS    nmol/mL 
Interpretation      

PRIMARY
1 Urine 1 (0.15) mL   Frozen - 28 Day(s)  
ALTERNATE
  Urine 24 hour   Frozen - 28 Day(s)  

The intended use for this test is as a means of evaluating patients with a suspected inherited disorder of creatine metabolism. The cerebral creatine deficiency syndromes (CCDS), inborn errors of creatine metabolism, include the two creatine biosynthesis disorders (guanidinoacetate methyltransferase [GAMT] deficiency and L-arginine: glycine amidinotransferase [AGAT or GATM] deficiency), and the X-linked creatine transporter [SLC6A8] deficiency. Intellectual disability and seizures are common to all three CCDS. The majority of individuals with GAMT deficiency have a behavior disorder that can include autistic behaviors and self-mutilation; a significant proportion have pyramidal/extrapyramidal findings. Onset is between the ages of three months and three years. The phenotype of SLC6A8 deficiency in affected males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, and behavior disorder, with age at diagnosis ranging from 2 to 66 years. Females heterozygous for SLC6A8 deficiency may have learning and behavior problems.

Collect a random urine specimen. Immediately freeze specimen. Correct
specimen collection and handling is crucial to achieve reliable
results.
Setup Schedule
Tuesday

Reported (Analytical Time)
4 days

CPT Codes
82542,82540,82570

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
Reject Criteria: Specimens other than urine; specimens not frozen immediately after collection
Transport Temperature: Frozen
Methodology: Liquid Chromatography/Tandem Mass Spectrometry






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