Services
Comprehensive Neurology Panel:
The Comprehensive Neurology Panel is an analysis of 118 genes associated with an increased risk for hereditary conditions associated neurocognitive and neuromuscular dysfunction. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for hereditary neurocognitive and neuromuscular conditions. Given the clinical overlap of these conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.
Most Appropriate Patient Population for Testing:
This panel is appropriate for a patient who has a personal and/or family history of a neuromuscular or neurocognitive condition or any of the symptoms listed below.
- Progressive cognitive decline outside of what is expected for normal aging.
- Sudden or progressive changes in personality or behavior
- Dysarthria (difficulty speaking), and/or dysphagia (difficulty swallowing)
- Muscle weakness, difficulty with walking and coordinated movements.
Benefits of Testing:
Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Also, if a patient tests positive then the patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in the patient, close blood relatives (children, siblings, parents) may have as great as a 50% risk to also have this same genetic variant and be at increased risk for the associated condition.
