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 the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

In The News