Neuronal Migration Disorders Precision Panel

Overview

• 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. These disorders share mutations in migration genes that code for proteins involved in the placement of neuronal structures within the organism. Perturbation in neuronal migration result in abnormal lamination, neuronal differentiation defects, abnormal cell morphology and circuit formation, particularly in the cerebral cortex. Ultimately, the result is a disorganized excitatory and inhibitory activity of the brain. More than 25 syndromes resulting from abnormal migration have been identified. Among them exists different patterns of inheritance such as autosomal dominant, recessive and X-linked. 
• The Igenomix Neuronal Migration Disorders Precision Panel  can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

• The Igenomix Neuronal Migration Disorders Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with or without the following manifestations: 
  • Poor muscle tone 
  • Poor motor function 
  • Seizures 
  • Developmental delay 
  • Mental retardation 
  • Failure to thrive 
  • Feeding difficulties 
  • Swelling in the extremities 
  • Small sized head 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
• Early initiation of treatment with a multidisciplinary team in the form of medical care antiepileptic medication and special or supplemental education with physical, occupational and speech therapies. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation.  

Genes & Diseases