Creatine Deficiency Syndromes Panel
Genes
Conditions
- Creatine Deficiency Syndromes
Clinical Utility
- Molecular confirmation of a suspected biochemical diagnosis
- Testing of patients suspected of having a creatine deficiency syndrome
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
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.
Billing
Targeted Variant Testing