Genetic testing can clearly diagnose many genetic disorders of the brain and nervous system. It can guide decisions towards more effective medical management and treatments. We have vast knowledge of variants in more than 1,850 genes associated with neurological diseases. Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and poor muscle control, quickly and comprehensively.
Our Ataxia / Spastic paraplegia panel includes genes relevant to hereditary neurological disorders characterized by ataxia and spastic paraplegia, including spinocerebellar ataxia (dominant and recessive), cerebellar ataxia, episodic ataxia, and pontocerebellar ataxia. These disorders normally share overlapping symptoms and can only be clearly differentiated by molecular genetic testing. Traditionally, ataxias and spastic paraplegia have been classified into separate categories. However, recent information shows that these diseases share genes, pathways and mechanisms and therefore our panel covers both syndromes and involves ataxia-spasticity disease spectrum. Our Ataxia / Spastic paraplegia panel is not only the best option for patients displaying gait imbalance and uncoordinated walking, but also for patients displaying spastic gait impairment, spastic weakness, and hyperreflexia or any of the combinations.
The most common forms of inherited ataxia are caused by repeat expansion mutations, therefore the compre-hensive version of our panel includes repeat expansion analysis.
|No. of genes:||483|
NGS including CNV analysis
- Cerebellar ataxia
- Episodic ataxia
- Pontocerebellar hypoplasia
- Spinocerebellar ataxia
CentoICU® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.
|No. of genes:||856|