Cerebral Creatine Deficiency: Clinical Exome Panel (Sec. & CNVs) – 3 genes
Delivery time
3-4 weeks
Sample
Blood
The Cerebral Creatine Deficiency Panel analyzes three genes responsible for disorders of creatine metabolism, a compound essential for energy storage and transfer in the brain and muscles. These disorders include GAMT (guanidinoacetate methyltransferase) deficiency, GATM (arginine:glycine amidinotransferase) deficiency, and creatine transporter deficiency syndrome (SLC6A8), located on the X chromosome. Clinically, they manifest with global developmental delay, intellectual disability, language disorders, epilepsy, and behavioral problems. Molecular diagnosis using next-generation sequencing (NGS) allows for the identification of pathogenic variants that alter creatine synthesis or transport, which is fundamental for early therapeutic management and genetic counseling. Genes included: GAMT, GATM, and SLC6A8.
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