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
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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