Neurome™ Neurological Exome

Exome sequencing can be a valuable tool to diagnose unexplained neurogenetic disorder. Athena Diagnostics’ Neurome™ Neurological Exome test (powered by Personalis®) is the first exome sequencing focused on neurological disease, with superior coverage and interpretation to help clinicians end the diagnostic odyssey.

Testing for Neurogenetic Disorders

The Neurome™ Neurological Exome test is powered by Personalis®’s ACE (Accuracy and Content Enhanced) exome technology and guided by cutting-edge phenotype-driven analysis. It can pinpoint the genetic cause of many neurological disorders including:

  • Developmental delay (autism, intellectual disability, global developmental delay)
  • Hearing loss
  • Early-onset dementia
  • Hereditary spastic paraplegia
  • Familial ALS (amyotrophic lateral sclerosis)
  • Leukodystrophies
  • Epilepsy
  • Muscular dystrophies and myopathies.

Coverage/Technical Sensitivity: Personalis®’s has finished over 6,000 genes (>99% of bases covered at 20x or above), and includes medically-interpretable regions outside the exome in introns, UTRs, and promoters.

In an internal study, Personalis’ ACE Exome technology enabled it to find causative mutations in ~56% of patients, compared to ~25% with other technologies.

The American College of Medical Genetics endorses exome sequencing when (ACMG):

  • A patient’s medical history and physical examination suggest a neurological disorder of unknown cause with a suspected genetic etiology
  • A patient presents with a genetically heterogeneous disorder
  • Targeted testing fails to identify a causative gene
  • A patient presents with a likely genetic disorder but targeted testing is not available

Resources for Physicians

The NeuromeTM test is not available in the states of California and New York.

Medical Affairs Resources

Athena Diagnostics Client Services - (800) 394-4493 Option 2

Athena Diagnostics Genetic Counselors -

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Resources for Patients

Athena Diagnostics knows that the diagnostic odyssey can be challenging. The Neurome test reads the entire exome, which is the part of the human genome that encodes for genes, and reports variants on all genes associated with neurological disease.

This test takes 10-15 weeks to complete, and is not available in the states of New York and California.

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