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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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…
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SMN-negative spinal muscular atrophy panel
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. The onset of muscle weakness ranges from the prenatal period to adolescence or young adulthood, with infantile-onset SMA being the most common…
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A variant in NUDT2 causes a recessive neurodevelopmental disorder
A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.
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Fragile X syndrome genetic testing
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and one of the leading causes of monogenic forms of autism. FXS is a repeat disorder caused by the expansion and methylation of CGG trinucleotide repeats in the FMR1 gene to over 200 repeats (Normal allele = 44…
