Mayo Clinic Laboratories > Pediatrics > Neurology

Neurology

Testing to pinpoint diagnoses

Due to the growing prevalence of autoimmune neurological conditions in kids, we offer a comprehensive autoimmune evaluation — the only one of its kind. It’s more efficient and cost-effective than ordering individual antibody tests, while covering a greater spectrum of conditions. We also partner with Mayo Clinic’s world-renowned biochemical genetics laboratory for the most sophisticated technology and processes available for pediatric neurogenetic testing. You’ll have access to top pediatric neurologists, neurogeneticists, and genetic counselors who offer guidance and expertise for a better pediatric patient experience.

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Autoimmune disorders Autoimmune disorders
Autoimmune disorders

Covering the spectrum of autoimmune neurological disorders, our evaluations apply a phenotype-specific approach to diagnose and guide treatment for patients affected by immune-mediated neurological illness.

CNS demyelinating disease CNS demyelinating disease
CNS demyelinating disease

Our unique evaluation to diagnose immune-mediated CNS demyelinating disease uses a fluorescence-activated cell sorting (FACS) live cell-binding assay to detect the two most common antibodies linked to the harmful autoimmune response: aquaporin-4 (AQP4-IgG) and MOG-IgG.

Hereditary hearing loss Hereditary hearing loss
Hereditary hearing loss

Our comprehensive 200-gene hereditary hearing loss panel uses a custom capture NGS reagent to provide maximum sequencing coverage, with the goal of identifying single nucleotide variants, small insertions and deletions, and copy number variants. For genes with suboptimal coverage, we perform supplemental testing.

Mitochondrial disease Mitochondrial disease
Mitochondrial disease

We offer four molecular test options that can complement radiological and histological evaluations to confirm a mitochondrial diagnosis and identify a specific mitochondrial syndrome. Rather than a series of targeted panels or single-gene analysis, we recommend sequencing the entire mitochondrial genome and/or performing a comprehensive nuclear gene panel.

Neuromuscular disease Neuromuscular disease
Neuromuscular disease

Our distinctive approach to testing for genetic neuromuscular disorders uses phenotypic information to streamline diagnosis. Phenotype-specific panels enable targeted testing, improving diagnosis and minimizing uncertain results.

Sleep disorders Sleep disorders
Sleep disorders

Our testing to assess for narcolepsy evaluates for low concentrations of orexin-A/hypocretin-1 in cerebrospinal fluid. Sensitive and specific, this evaluation provides results that can guide appropriate treatment for patients.

Reliable results

We use advanced technologies, tests, and methodologies to give you the most accurate results possible for your pediatric patients. This includes using digital droplet pulmonary chain reaction (ddPCR) to test for genetic hearing loss. Our technology is more reliable than all other genetic hearing loss tests used by other reference labs.


Demystifying the once unknown

One of the great challenges in interpreting genetic test results is understanding the role that variants of unknown significance may play in a child's diagnosis. But our technology and expertise changes this. Your care team will receive a detailed report that categorizes variants of unknown significance within the test result, so you can accurately pinpoint diagnosis.

Minimizing risk

To minimize the risk of human error in test result interpretation, we utilize technologies and develop unique tests that deliver unambiguous results. For instance, we use kappa free light technology to accurately test for multiple sclerosis (MS) in children. The standard MS test leaves room for human misinterpretation, while ours uses a mechanical process that gives a clear diagnostic result.

News and updates

The latest

Hereditary hearing loss [Test in Focus]

Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, explains the innovative new hereditary hearing loss panel now available through Mayo Clinic Laboratories. This comprehensive panel analyzes 160 genes associated with hereditary hearing loss, assessing for both nonsyndromic hearing loss, as well as syndromic hearing loss, which can be difficult to recognize clinically.

Learn more
Hereditary hearing loss [Test in Focus]

Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, explains the innovative new hereditary hearing loss panel now available through Mayo Clinic Laboratories. This comprehensive panel analyzes 160 genes associated with hereditary hearing loss, assessing for both nonsyndromic hearing loss, as well as syndromic hearing loss, which can be difficult to recognize clinically.

Pediatric Autoimmune CNS Disorders Evaluation

This “Specialty Testing” webinar will address the clinical presentations, evaluation (including diagnostic antibody testing), and treatment of autoimmune pediatric CNS disorders, including encephalitides and myelopathies.

Chromosome Analysis vs. Chromosomal Microarray

Chromosome analysis, which was once the preferred genetic test for a wide variety of congenital abnormalities, is now one of the most frequently misordered cytogenetic tests at MML. This "Specialty Testing" webinar will outline the differences in technologies and the appropriate use of each test.

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