Neurology & Neurodevelopment
Neurological disorders are usually caused by mutations in genes involved in the normal function of the brain, spinal cord and peripheral nerves.
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Neurological disorders are usually caused by mutations in genes involved in the normal function of the brain, spinal cord and peripheral nerves.
Despite the genetic heterogeneity of neurological disorders, there is extensive phenotypic overlap which makes traditional diagnostic testing more complicated and time-consuming.
Unilabs Genetics offers WES testing and has designed multiple disease-specific panels for a precise diagnosis of neurological conditions such as Alzheimer´s disease, Parkinson's disease, ataxia, epilepsy, and others. Based on clinical evidence or the suspicion for a specific disease/gene, we utilize appropriate laboratory methods (NGS, MLPA, repeat expansion analysis, etc) in identifying the underlying genetic cause of the disease.
Neurodevelopmental disorders (ND) are a group of conditions in which the growth and development of the brain is affected. The symptoms most often begin to show when a child is young and manifest as difficulties in social, cognitive, motor and emotional functioning.
Examples of neurodevelopmental disorders include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), intellectual developmental disorder, motor coordination disorders and learning disorders.
Unilabs Genetics specialty tests combine chromosomal analyses and carefully selected NGS gene panels associated with many different disorders with overlapping features, thereby increasing the diagnostic yield of testing.
Identifying the genetic cause in any of the hundreds of genes implicated in the genetic etiology of ND early in the life of a child is critical for accurate diagnosis and subsequent care.
See below a list of the most frequently requested tests.
- WES: the recommended test for early and cost-effective genetic diagnosis of ND. Assesses both sequence and copy number variants.
- Chromosomal microarray analysis (array CGH, Cytoscan HD)
- Chromosomal microarray (array CGH, Cytoscan 750K)
- Fragile X syndrome (FMR1 gene) msTP-PCR or Conventional PCR
- Spinal Muscular Atrophy (SMN1, SMN2)
- Neurodegenerative Disorders Panel
- Neuromuscular Disorders Panel
- Epilepsy Panel
- Autism Spectrum Disorders Panel
- Intellectual Disability Panel
- X-Linked Intellectual Disability Panel
- Parkinson´s disease Panel
- Hereditary Ataxia Panel
- Hereditary Spastic Paraplegia Panel
- Alzheimer's Disease Panel
Please use the search box at the top of the page to search for specific tests and disorders.
