Neurology
The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.
Articles on neurology
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Association of hydrocephalus and renal dysplasia
Read more about our recent findings in association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshit variant in an alternatively spliced exon.
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Novel clinical and genetic insights into dysfunction of the ASC-1 complex
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC3). Read more about novel clinical and genetic insights into dysfunction of the ASC-1 complex.
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Comprehensive dystonia panel
Dystonias are a diverse spectrum of neurological movement conditions characterized by sustained muscle contractions (spasms) causing repetitive twisting movements or abnormal postures. Dystonia can be a chronic and disabling condition, localized to areas such as the head and neck or individual…
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Dejerine-Sottas syndrome panel
Dejerine-Sottas syndrome (DSS) is a hereditary neuropathy is a severe phenotype of Charcot-Marie-Tooth disease (CMT). It is characterized by early-onset (first 2 years of life), delayed motor development, slow nerve conduction velocity and severe loss of myelinated fibers in nerve biopsy.
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Spinocerebellar ataxias (SCA) comprehesive panel
Spinocerebellar ataxias (SCA) are a group of hereditary neurological disorders characterized by slowly progressive ataxia accompanied by cerebellar degeneration. Ataxia is gait imbalance associated with limb incoordination and loss of fine and gross motor control. The most common types of SCA are…