Invitae Neurotransmitter Disorders Panel
Use
The Invitae Neurotransmitter Disorders Panel analyzes 45 genes associated with neurotransmitter disorders affecting metabolism, receptors, and transporters. It is applicable for patients with CSP neurotransmitter abnormalities or neurological symptoms like dystonia, parkinsonism, autonomic and behavioral dysfunction, or oculogyric crises. Genetic testing can confirm diagnosis and help in treatment and management decisions, in addition to guiding testing and diagnosis in at-risk relatives.
Special Instructions
This panel can be customized by adding or removing genes, which are specifically selected based on available evidence to provide comprehensive testing for neurotransmitter disorders.
Limitations
The test may not fully resolve details of some variants including mosaicism, phasing, or mapping ambiguity, and does not cover promoter, non-coding exons, and non-coding regions unless explicitly stated. Structural rearrangements or variants in complex sequences may not be detected. Some single-exon copy number events may not be analyzed due to technical limitations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)