Creatine Transporter Deficiency: Creatine Analysis (Urine)

Elevated creatine/creatinine ratios in urine are suggestive of creatine transporter deficiency.

Turnaround Time

2 weeks

CPT Code(s)

82570 & 82540

Cost

$90

• Creatine Transporter Deficiency

Studies in urine from affected males show an elevated creatine/creatinine ratio which is diagnostic for the disorder.

Analysis will be done by tandem mass spectrometry (MS-MS) with quantitation of creatine and creatinine.

Urine (at least 1 ml) is preferred for the analysis. A fasting sample or first morning urine is preferred in males under 10 years of age. Plasma can also be accepted.

Urine samples must be frozen and shipped on dry ice by overnight delivery services. Plasma should be shipped overnight or spin down and send frozen.