TESTING PANELS

 

Autism Spectrum Disorders Panel (51 genes)

The Autism Spectrum Disorders Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of autism spectrum disorders or identify at-risk individuals.


Dystonia Panel (21 genes)

The Dystonia Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of dystonia and Parkinson disease presenting with dystonia as a feature or identify at-risk individuals. This panel includes genes associated with isolated dystonia, myoclonic dystonia, dystonia with parkinsonism, and episodic kinesigenic dyskinesia.


Epilepsy Panel (196 genes)

The Epilepsy Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of epilepsy or identify at-risk individuals.


Hereditary Dementia Panel (27 genes)

The Hereditary Dementia is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of hereditary dementia or identify at-risk individuals.


Hereditary Neuropathies Panel (81 genes)

The Hereditary Neuropathies Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of hereditary neuropathy or identify at-risk individuals.


Intellectual Disability and Autism Panel (171 genes)

The Intellectual Disability and Autism Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of intellectual disability and autism spectrum disorders or identify at-risk individuals.


Neurodegenerative Disorders Panel (42 genes)

The Neurodegenerative Disorders Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of hereditary neurodegenerative disorders or identify at-risk individuals. This panel includes genes associated with hereditary dementias, including Alzheimer disease (AD), Parkinson disease, parkinsonism, and dystonia, all of which can have overlapping features, and amyotrophic lateral sclerosis.


Parkinson Disease and Parkinsonism Panel (23 genes)

The Parkinson Disease and Parkinsonism Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of Parkinson disease and other similar disorders or identify at-risk individuals. This panel includes genes associated with Parkinson disease, parkinsonism, and some forms of dystonia, all of which can have overlapping features.