Creatine Transporter Deficiency: Creatine Analysis (Urine)

Key Information

TAT:

14 days

Price:

$90

CPT Code(s):

82570, 82540

Test Code:

BUCN

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.

Creatine transporter deficiency

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