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GLUT1 Deficiency (SLC2A1) Sequence Analysis
An advanced genetic test to detect SLC2A1 gene mutations causing GLUT1 deficiency. This helps accurately diagnose causes of epilepsy and movement disorders to determine the best early treatment plan.
This procedure involves full sequencing of the SLC2A1 gene to identify genetic mutations. It aids in diagnosing GLUT1 deficiency syndrome, especially in cases of unexplained neurological symptoms or low CSF glucose levels.
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