About this trial
The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen sequencing including whole exome and whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies - all ordered as clinically deemed appropriate, natural history from clinical longitudinal follow-up and to use de-identified information from this registry/ repository, when appropriate for clinical and translational research.
Eligibility criteria
Qualifiers
Patients evaluated at the Neurogenetics clinic and suspected to have an underlying neurogenetic disorder will be included.
Patients with known abnormal genetic testing with a neurological phenotype will be included.
Disqualifiers
Patient with acquired diagnosis, which can explain the patients clinical symptoms and with a clinical phenotype or family history not suggestive of an underlying genetic etiology.
Trial design
Treatments tested in this trial
- Not listed