The Neurome™ Test 2016-12-03T06:23:56+00:00

The Neurome™ Test
Developed and Implemented by Personalis for Athena Diagnostics®

A diagnostic test for the most challenging cases of neurological disease

Designed to Enhance Diagnostic Yield for Clinical Care

The Neurome Test (provided by Athena Diagnostics) is the first whole exome assay (>20,000 genes sequenced) with analysis specifically focused on neurological disease. Powered by ACE Exome™ Technology, the Neurome Test augments a standard exome to sequence regions of the genome missed by conventional exome technologies.

The Neurome Test provides a super-charged, neurologically focused investigation—one that obtains superior coverage, optimizes variant detection, and provides the best possible genetic information and insight for neurologists, geneticists, and their patients.

Analysis of Neurological Disease

The Neurome Test can pinpoint the genetic basis of many neurological disorders including:

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

4 Reasons Why the Neurome Test Makes a Difference

ACE Exome Technology features:

  1. A High Level of Gene Finishing

    In an attempt to capture the protein-coding regions of the genome, standard exome sequencing platforms may not achieve complete coverage of many genes. Some entire exons, including many associated with disease, are overlooked. Other variants/exons/regions are not well-covered. In contrast, single-gene tests and gene panel tests generally cover all of the coding bases of a gene, as well as the intron-exon boundaries. To address this challenge, ACE Exome Technology was designed to “finish” the biomedically interpretable genes in the exome to a similar standard as single-gene sequencing. As a result, the Neurome Test provides a high level of biomedical gene finishing in an exome platform, increasing sensitivity to detect potentially pathogenic variants.
    ACE Exome for the Neurome

  2. Non-exonic Interpretable Content

    While the majority of known pathogenic variants reside within the coding regions of genes, there are many well-characterized pathogenic variants located in introns, UTRs, and promoters – often undetectable using standard exome platforms. In addition to covering the coding bases of a gene and the intron-exon boundaries, the Neurome Test includes non-exonic interpretable content not found in standard exomes.

  3. Phenotype-driven Analysis

    The Neurome Test employs a phenotype-driven approach to analysis, which systematically ranks variants based on clinical features and eliminates secondary variants that are unrelated to any of the patient’s clinical features. This approach reduces the likelihood of unrelated findings, which can reduce emotional stress on patients and caregivers. Common and unconventional inheritance patterns, such as de novo events in recessive disorders, mitochondrial inheritance, and non-penetrance, are considered. Aneuploidy is detected, and routine assessment for regions of homozygosity provides insight regarding consanguinity and uniparental disomy.

  4. Intuitive and Actionable Reports

    Each prioritized variant is examined in detail by a clinical team of physicians, genetic counselors, bioinformaticians, and laboratory directors who determine if any of the variants identified are likely to be causally related to the clinical presentation. Results are presented in clear, clinician-friendly reports with key findings summarized on the front page. Our genetic counselors are available for consultation with clinicians. We believe that understanding the complexities of disease and genetic variation will inform and benefit future medical management.

The Neurome Test’s Phenotype-driven Approach to Testing

The Neurome Test platform pairs relevant patient phenotypes with a ranked list of genes for each patient sample to better elucidate the causative variant(s) and eliminate secondary findings. Each patient’s history is considered in detail, including clinical features, pedigree information, and clinical notes to ensure a thorough analysis.

  • The report details genetic variants relevant to the reported clinical presentation.
  • Interpretation is focused on genes likely to cause human neurological disease based on literature-based databases including OMIM, HGMD, Personalis disease variant database, and other sources.
  • Sanger sequencing or orthogonal testing, as appropriate to the genomic region and variant type, is performed to confirm reported variants.

Ordering Information (Contact Athena Diagnostics)

Athena Diagnostics Neurome Test services are performed at the labs at Personalis:

The Neurome™ Test Services
Test Code Test Name Specimen Volume Tube Type Turnaround Time
1500 Neurome™ Neurological Exome (Proband)
CPT Code: 81415(1)
Adult: 6-8 mL
Pediatrics: (0-3 yrs.): 2-4 mL
Whole blood, lavender (EDTA) top tube
10-15 weeks
1501 Neurome™ Neurological Exome (Trio)
CPT Code: 81415(1), 81416* plus additional codes(s) if necessary to find a causative variant
Adult: 6-8 mL
Pediatrics: (0-3 yrs.): 2-4 mL
Whole blood, lavender (EDTA) top tube
10-15 weeks
1509 Family Testing Supporting Neurome™ Analysis
CPT Code: 81403
Adult: 6-8 mL
Pediatrics: (0-3 yrs.): 2-4 mL
Whole blood, lavender (EDTA) top tube
10-15 weeks
Ship overnight at room temperature. *Depending on the number of family members