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
Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

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