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

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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