To determine our clinic’s yield from genetic panel testing, uncover specific patient presentation patterns to help target genetic testing and further diagnostic studies.

In this retrospective analysis, data will be collected from a tertiary referral center in central Pennsylvania. Gene panel results from Invitae (San Francisco, California) and GeneDx (Gaithersburg, Maryland) with a total of roughly 900 patients will be evaluated in correlation with patient’s demographic data, phenotype, family history, age of onset, and electrodiagnostic studies.

To date, 317 patients with Invitae genetic panel testing results were reviewed. Mean age at symptom onset and time of genetic testing were 47 and 55 years, retrospectively.  Fifty-one percent were female. Eighty-three percent were white, 2.8% African-American, 2.2% Asian, 0.3% Hispanic, 11.7% others or unavailable per chart review. Patients were categorized into the following initial presentations: motor neuron disease (36%), neuropathy (22%), myopathy (18%), neuromuscular junction (1%), and other (28%). Electrodiagnostic studies showed the following patterns: large-fiber polyneuropathy (12%), myopathic (6%), motor neuron disease (31%), or nonspecific (53%). Genetic panels results were as follows: positive 14%, negative 42%, uncertain 38%, and carrier 7%. Of those patients with a positive panel result, significant family history was present in 74% and diagnostic EMG in 51%.