Detects genetic variants associated with motor neuron neurodegenerative disease, causing weakness, atrophy and paralysis
Detects genetic variants associated with hereditary ataxias and coordination disorders
Detects genetic variants associated with autism spectrum disorders and neurodevelopmental impairments
Detects genetic variants associated with cerebral cavernous malformations and related neurological symptoms
Detects genetic variants associated with peripheral neuropathies, with progressive muscle weakness and sensory loss
Detects genetic variants associated with primary CoQ10 deficiency, mitochondrial disorders and cerebellar ataxia
Detects genetic variants associated with inherited neuromuscular disorders with muscle weakness and joint contractures
Detects genetic variants associated with neuromuscular junction disorders causing fatigable muscle weakness
Detects genetic variants associated with neurometabolic disorders with intellectual disability and seizures
Detects genetic variants associated with neurodegenerative dementias and progressive cognitive decline
Detects genetic variants associated with dystonia and movement disorders of the nervous system
Detects genetic variants associated with muscular dystrophy involving progressive weakness and cardiac abnormalities
Detects genetic variants associated with epilepsy, seizures and neurodevelopmental disorders
Detects genetic variants associated with epileptic encephalopathies and neurological dysfunction
Detects genetic variants associated with forebrain malformations and craniofacial abnormalities
Detects genetic variants associated with generalized and focal epilepsies of the nervous system
Detects genetic variants associated with inherited white matter disorders of the central nervous system
Detects genetic variants associated with muscular dystrophies and progressive muscle weakness
Detects genetic variants associated with lissencephaly and abnormalities of cortical brain development
Detects genetic variants associated with macrocephaly, overgrowth and neurodevelopmental disorders
Detects genetic variants associated with metabolic disorders presenting with epileptic seizures
Detects genetic variants associated with rhabdomyolysis, muscle damage and disorders of energy metabolism
Detects genetic variants associated with brain development disorders and neurodevelopmental dysfunction
Detects genetic variants associated with migraine with aura and episodic hemiplegia
Detects genetic variants associated with progressive muscle weakness and neuromuscular disorders
Detects genetic variants associated with nemaline and related myopathies affecting skeletal muscle function
Detects genetic variants associated with neuro-ophthalmic disorders affecting vision and ocular movements
Detects genetic variants associated with neurodegenerative epilepsies, myoclonus, and cognitive decline
Detects genetic variants associated with neuronal migration disorders and cortical malformations
Detects genetic variants associated with Parkinson's disease and neurodegenerative manifestations
Detects genetic variants associated with episodic muscle weakness and periodic paralysis with potassium imbalance
Detects genetic variants associated with polymicrogyria and cortical malformations
Detects genetic variants associated with porphyrias with neurovisceral attacks and cutaneous photosensitivity
Detects genetic variants associated with septo-optic dysplasia and abnormalities of vision, pituitary, brain
Detects genetic variants associated with progressive lower limb spasticity, weakness and gait impairment
Detects genetic variants associated with progressive muscle weakness and atrophy due to motor neuron degeneration
Detects genetic variants associated with tuberous sclerosis and multisystem manifestations.
Detects genetic variants associated with intellectual disability, developmental delay and epilepsy