Ataxia Telangiectasia Precision Panel
Ataxia Telangiectasia is a complex multisystem disorder characterized by progressive neurologic impairment, altered balance, variable immunodeficiency with susceptibility to upper respiratory tract infections, impaired organ maturation, ocular and cutaneous telangiectasia and predisposition to malignancy.
Neurofibromatosis Precision Panel
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous congenital disorders that affect organs of ectodermal origin including skin, central nervous system, and the eyes. All are inherited in an autosomal dominant pattern and are characterized by a high rate of mutational change occurring for the first time in an individual as well as variable expression.
Spinal Muscular Atrophies Precision Panel
Spinal Muscular Atrophies (SMAs) are a group of autosomal recessive inherited disorders characterized by progressive weakness of the lower motor neurons, manifesting as muscle weakness, atrophy and paralysis.
Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel
Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a group of nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. It usually appears as a feature of other neuromuscular conditions or part of systemic diseases.
Rett Syndrome Precision Panel
Rett Syndrome (RTT) is a neurodevelopmental disorder that occurs predominantly in females and has a progressive degenerative course resulting in cognitive and physical disabilities. Presentation is clinically heterogeneous ranging from difficulty to ambulate all the way to atrophy, dystonia, scoliosis and intellectual impairment.
Aicardi-Goutieres Syndrome Precision Panel
Aicardi-Goutieres Syndrome is a rare genetic neurological disorder with variable clinical manifestations including infantile spasms-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities.
Amyotrophic Lateral Sclerosis Precision Panel
Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis.
Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy Precision Panel
Epileptic Encephalopathy and Early Infantile Epileptic Encephalopathy (EIEE) describes a clinical and genetic heterogeneous group of epilepsy syndromes associated with severe cognitive and behavioral abnormalities. Clinically these disorders vary in their age of onset, developmental outcome, etiologies, neuropsychological deficits, seizure types and prognosis.