Creatine Deficiency Syndromes Panel

Concurrent analysis of multiple genes associated with disorders caused by defects in the transport and biosynthesis of creatine. 

Test Overview

Clinical Utility

  • Molecular confirmation of a suspected biochemical diagnosis
  • Testing of patients suspected of having a creatine deficiency syndrome

Test Details

Genes

GAMT, GATM, SLC6A8

Conditions

  • Creatine Deficiency Syndromes

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: J976
CPT Codes*: 81479x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs