Interpretative Information

Program eligibility: This program is available to patients in the U.S. and Canada who are suspected of having, or have clinical symptoms consistent with, a neurotransmitter disorder.

The Invitae 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.