Creatine Transporter Deficiency : Creatine/Creatinine Analysis (Urine)

Test Information

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

Turnaround Time

2 weeks

CPT Code(s)

82570 & 82540

Cost

$90

Indications

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

Methodology

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

Specimen Requirements

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.

Transport Instructions

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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analyte Analysis, Analytes and Biomarkers, Biochemical Testing
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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