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.

Chromosomal microarray Chromosomal microarray
Chromosomal microarray

Every chromosomal microarray test performed at Mayo Clinic is supported by the experience and expertise of our laboratory directors and genetic counselors, ensuring we not only provide test results but clinically actionable interpretations.

Demyelinating disease Demyelinating disease
demyelinating disease

We offer testing to diagnose a range of demyelinating diseases, from classic to atypical multiple sclerosis, AQP4/MOG-associated disorders, and spinal cord disorders.

Hereditary epilepsy Hereditary epilepsy
Hereditary epilepsy

We perform next-generation sequencing with copy number variant analysis of genes associated with Mendelian forms of epilepsy with the potential to inform clinical management. Our panels have been vetted by a team of epileptologists and board-certified geneticists to only include genes with a definitive association with epilepsy.

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.

Hereditary movement disorders Hereditary movement disorders
Hereditary movement disorders

Our menu of hereditary movement disorders testing includes testing for ataxia, Huntington's disease, and Parkinson's disease.

Hereditary neuromuscular disorders Hereditary neuromuscular disorders
Hereditary neuromuscular disorders

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.

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.

Neurodevelopmental disorders Neurodevelopmental disorders
Neurodevelopmental disorders

Our chromosomal microarray testing for congenital conditions is designed to help diagnose infants and other pediatric patients with congenital abnormalities, especially those with multiple or difficult-to-identify abnormalities.

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.

Whole exome sequencing Whole exome sequencing
Whole exome sequencing

Our whole exome sequencing (WES) test investigates approximately 20,000 genes in patients with suspected hereditary disorders. WES is recommended for individuals with congenital abnormalities, as well as for patients with developmental delay or intellectual disability diagnosed prior to age 18, among others.

Whole genome sequencing Whole genome sequencing
Whole genome sequencing

Whole genome sequencing (WGS) interrogates nearly every base pair of an individual’s DNA, including the mitochondrial genome. WGS can also detect variants in the non-coding region of DNA, certain spinal muscular atrophy variants, repeat expansions, and mitochondrial variants.

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 a 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

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.

Learn more
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.

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