Advanced mutation and copy number variation analysis
We offer the most in-depth mutation and copy number variation (CNV) analysis using next-generation sequencing (NGS) to help establish a diagnosis and long-term prognosis, as well as to determine potential treatment options. Interpretation by Mayo Clinic experts and the availability of in-house, confirmatory biochemical assays adds additional value to our test offering.
Expertly curated panels
Our panel focuses on genes with a clinical significance that are known to be causal when mutated in epilepsy. These genes are reviewed and vetted by Mayo Clinic epileptologists and geneticists to ensure the mutations discovered are actionable and have been previously reported in multiple families, thereby reducing the noise of false-positive or ambiguous results.
Complete and high-density coverage
We are the only laboratory offering greater than 100x coverage for every base at each exon in every gene. This ensures the highest possible sensitivity for the detection of sequence-level mutations, which reduces false-negative results.
Comprehensive CNV analysis
Overall, CNVs account for 10%–20% of all pathogenic mutations associated with epilepsy.* Using an internally developed algorithm for CNV detection, and leveraging our high depth of coverage, we demonstrated 100% sensitivity and greater than 99.9% specificity for the detection of CNVs across a very large sample set during the validation of our test.
Interpretation by Mayo Clinic experts
The primary goal of our clinical reports is to communicate the test results and their meaning for the patient in a clear and concise manner that is easily digestible by the clinicians who order our test. We have a dedicated team of laboratory directors and genetic counselors who specialize in the interpretation of genetics for neurological disorders.
Our primary goal as a laboratory is to ensure that the right test is performed on the right patient at the right time. We leverage the expertise of our lab-based genetic counselors to support these goals throughout the entire process, from test ordering to variant interpretation and test reporting.
Which test should I order?
- Early Epileptic Encephalopathy Panel (90 genes)
- Encephalopathy with Seizures Panel (129 genes)
- Epilepsy Expanded Panel (192 genes)
- Epilepsy with Migraine Panel (7 genes)
- Febrile Seizure Panel (9 genes)
- Focal Epilepsy Panel (16 genes)
- Infantile Spasms Panel (17 genes)
- Neuronal Migration Disorders Panel (29 genes)
- Progressive Myoclonic Epilepsy Panel (27 genes)
- Tuberous Sclerosis Panel (2 genes)
A Test in Focus
Christopher Klein, M.D., and Erik Thorland, Ph.D., give an overview of the new hereditary epilepsy panels . They discuss the Mayo Clinic testing approach, interpretation and results, and custom gene ordering.
Learn more about how to order this evaluation at your institution.