Creatine Transporter Deficiency – Biochemical Analysis

Test description Studies in urine from affected males show an elevated creatine/creatinine ratio which is diagnostic for the disorder.
Disease name Creatine transporter deficiency
Clinical info Creatine transporter deficiency is an X-linked disorder resulting from mutations in the SLC6A8 gene localized to Xq28. Affected males present with moderate to severe intellectual disabilities, severe speech and language delays, seizures, and epilepsy. Behavioral disturbances and autistic features have also been noted in a majority of patients. Some carrier females may have a history of learning disabilities.
Methodology Analysis will be done by tandem mass spectrometry (MS-MS) with quantitation of creatine and creatinine.
Associated Tests Molecular analysis for the gene causing creatine transporter deficiency (SLC6A8) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis. Biochemical analysis is also available for creatine biosynthesis disorders.
Specimen Requirements Urine (at least 500ul) is requested for the analysis. A fasting sample or first morning urine is preferred in males under 10 years of age.
Transport Samples must be frozen and shipped on dry ice by overnight delivery services
Turnaround time 14 days
CPT Codes 82570, 82540
Cost $90
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

Find out more