Neurotransmitter Disorders Panel

The Neurotransmitter Disorders Panel analyzes genes that are associated with disorders of neurotransmitter metabolism, receptors, and transporters including: - Disorders of monoamine synthesis, transport, or metabolism - BH4 synthesis/recycling defects - Disorders of GABA synthesis, transport or metabolism, and GABA receptors - Defects in glutamate metabolism, receptor, or transporter that affect the central nervous system - Vitamin B6 / Pyridoxine disorders - Disorders of glycine metabolism with effect on the central nervous system, including glycine cleavage system - Serine biosynthesis disorders This panel may be appropriate for patients with abnormal findings on CSF neurotransmitter studies and/or neurological features that include a combination of dystonia, parkinsonism, autonomic and behavioral dysfunction, or oculogyric crises. These genes were selected based on the available evidence to date to provide a broad test for neurotransmitter disorders. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant could also guide testing and diagnosis of at-risk relatives.