Creatine transporter deficiency
Creatine Transporter Deficiency: Creatine Analysis (Urine)
Creatine Transporter Deficiency: Creatine Analysis (Urine)
This test measures creatine/creatinine ratios in urine. Males affected with a creatine transporter deficiency will have an elevated ratio.
Technical Information
This test measures creatine/creatnine ratios using liquid chromatography-tandem mass spectrometry (LC-MS/MS).
Specimen Requirements
Urine is the sample type for this test, and requires a minimum of 2 mL random catch urine.
Transport Instructions
The urine specimen should be frozen after collection and shipped frozen, preferably on dry ice.
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC
