Discover the power of genetic testing for neurology

Delivering meaningful diagnostic outcomes for patients with pediatric and adult-onset disorders.
14% statistic icon with line drawing of a person in a wheelchair

About 14% of all cases of cerebral palsy are linked to a patient’s genes[1]

1 in 60 statistic icon with line drawing of a DNA helix

About 1 in 60 people are carriers for Friedreich Ataxia[2]

60-70% statistic icon with line drawing of a DNA helix

60-70% of people with Charcot-Marie Tooth have a genetic diagnosis[3]

GeneDx offers a comprehensive neurogenetics test menu that includes:

  • Single gene tests
  • Expertly curated multi-gene panels, including panels with a small number of genes targeted to the highest yield genes, comprehensive panels, and large Xpanded gene panels which cover all known genes and newly emerging genes related to a broader clinical indication
  • Specialized testing
    • Methylation analysis
    • SMN1 and SMN2 dosage analysis
    • Repeat expansion analysis
    • Targeted Mosaic Variant analysis
  • Prenatal diagnosis options

 

Did you know? 

 

Our Xpanded panels offer trio-based analysis and are targeted specifically to your patient’s neuro phenotype, leading to reduced VUS rates.[4]

 

 

LEARN MORE ABOUT OUR XPANDED PANEL OFFERING

 

From answer to action

We are bringing the power of genomics to patients with neurological disorders. Whether seeking answers to pre-ordering questions, testing recommendations, or help with variant interpretation, our clinical experts are here to help neurologists, genetic professionals, and healthcare providers fully understand the benefits of genetic testing and avoid pursuing costly, more invasive tests.

 

Delivering more answers starts with the right tests

Our comprehensive menu helps ensure you have options to choose the right test(s) for your patients, while our clinical experts ensure you are supported throughout the entire testing process.

Line drawing of a neuron to indicate neurdevelopmental disorders and epilepsy

Neurodevelopmental Disorders and Epilepsy

  • Fragile X Syndrome
  • Autism/Intellectual Disability
  • Rett-Angelman Syndrome and Related Disorders
  • Epilepsy
  • Neurofibromatosis
Line drawing of a brain with a line indicating a disruption in the central nervous system

CNS Malformations and Disorders

  • Brain Malformation
  • Macrocephaly or Microcephaly
  • Leukodystrophy
  • Dementia
Line drawing of a hand with lines down the fingers to indicate movement disorders

Movement Disorders

  • Ataxia
  • Cerebral Palsy
  • Hereditary Spastic Paraplegia
  • Dystonia and Parkinsonism
Line drawing of muscles and nerves to indicate a neuromuscular disorder

Neuromuscular Disorders

  • Congenital Hypotonia
  • Spinal Muscular Atrophy
  • Amyotrophic Lateral Sclerosis/Frontotemporal Lobar Degeneration
  • Hereditary Neuropathy
  • Muscular Dystrophy and Myopathies
Line drawing of a chemical structure to indicate a neurometabolic disorder

Neurometabolic Disorders

  • Metabolic Myopathy
  • Lysosomal Storage Disorders
  • Peroxisomal Disorders
  • Creatine Deficiency Syndromes

 

  1. Jin SC, Lewis SA, Bakhtiari S, et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics. 2020;52(10):1046-1056. doi:10.1038/s41588-020-0695-1
  2. Bidichandani SI, Delatycki MB. Friedreich Ataxia. PubMed. Published 1993. https://www.ncbi.nlm.nih.gov/books/NBK1281/
  3. Murphy SM, Laura M, Fawcett K, et al. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. Journal of Neurology, Neurosurgery & Psychiatry. 2012;83(7):706-710. doi:10.1136/jnnp-2012-302451
  4. Stolar, Dana, et al. The power of the trio: Trio analysis as an effective way to increase diagnostic yield and resolve variants of uncertain significance for neurodevelopmental disorders (Platform Presentation). Presented at the 39th NSGC Annual Conference 2020 (Online).