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.
Developmental and 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.
Comprehensive Epilepsy Precision Panel
Epilepsy is a central nervous system disease characterized by recurrent unprovoked seizures, which are brief episodes of involuntary movement that may involve a part of the body (partial) or the entire body (generalized) and can be accompanied by loss of consciousness and loss of control of bowel or bladder function.
Neuronal Migration Disorders Precision Panel
Neuronal migration disorders are a heterogeneous group of disorders of the nervous system development where there is abnormal migration of neurons in the developing brain. Examples of diseases in this category include lissencephaly, schinzencephaly, porencephaly, agyria, microgyria, polymicrogyria, pachygyria, etc.
Parkinson and Early Onset Parkinson Disease Precision Panel
Parkinson Disease (PD) is one of the second-most common neurodegenerative disorder affecting 2-3% of the population >65 years of age. It has traditionally been considered a motor system disorders, now recognized to be a complex condition with diverse clinical features.
Dystonia Precision Panel
Dystonia is a heterogeneous movement disorder featuring sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures or both. Dystonic movements are typically patterned and twisting, even tremulous.
Hereditary Spastic Paraplegia Precision Panel
Hereditary Spastic Paraplegia (HSP) includes a group of familial diseases that are characterized by progressive degeneration of the corticospinal tracts responsible for movement and sensation. HSPs are differentiated into “pure” forms if there is bladder involvement and “complicated” if there are additional neurologic or systemic abnormalities.
Hyperekplexia Precision Panel
Hyperekplexia, also known as stiff baby syndrome or startle disease, is a rare hereditary neurological disease associated to a variety of gene mutations that affect the glycine receptor. This disorder is characterized by a triad of generalized stiffness while awake, nocturnal myoclonus and exaggerated startle reflex.
Charcot Marie Tooth and Sensory Neuropathies Precision Panel
Charcot Marie Tooth disease (CMT) belongs to the spectrum motor and sensory neuropathies caused by mutations in genes encoding proteins that code for myelin, gap junctions and axonal structures within the peripheral nerves. It is the most prevalent inherited neuropathy.
Congenital Muscular Dystrophies and Myopathies Precision Panel
Congenital Muscular Dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes responsible for normal muscle function, resulting in progressive muscle weakness without a central or peripheral nerve abnormality.
Alzheimer Disease Precision Panel
Alzheimer Disease (AD) is the most common cause of dementia and one of the leading causes of morbidity and mortality in the aging population.
Spinocerebellar Ataxia Precision Panel
Spinocerebellar Ataxia (SCA) refers to a heterogeneous group of progressive neurodegenerative diseases of genetic origin. Currently, more than 30 types have been described, most of which are autosomal dominant. Classification is done according to the clinical manifestations or genetic nosology.
Autism and Attention Deficit Hyperactivity Disorder Precision Panel
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests and activities. These symptoms appear from early childhood and limit or impair everyday functioning.
Amyloidosis and Neuropathies Precision Panel
Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers.