Advanced mutation and copy number variation evaluation
Comprehensive analysis for definitive results
We perform in-depth mutation and copy number variant (CNV) analysis using next-generation sequencing (NGS) to help determine causes of epilepsy and identify potential treatment options. Interpretation by Mayo Clinic experts and the availability of in-house confirmatory biochemical assays add value to our test offering.
Expertly curated panels
Our panels were carefully curated and vetted by a multidisciplinary team of board-certified Mayo Clinic epileptologists and geneticists to only include clinically significant genes known to be causal for epilepsy when mutated. This ensures any pathogenic variants identified are actionable and reduce the noise of false positive or ambiguous results.
Complete and high-density coverage
Our laboratory testing offers greater breadth and depth of 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
CNVs account for 10% to 20% of all pathogenic mutations associated with epilepsy.1,2 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 large sample set during test validation.
Interpretation by Mayo Clinic experts
The primary goal of our clinical reports is communicating test results and their implications to patients in a clear, concise manner that is easily digestible by ordering clinicians.
These tests are useful for establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes, and identifying mutations within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive testing of at-risk family members.
Custom Gene Ordering
Our custom gene ordering allows the creation of a custom gene list to tailor testing to a patient’s exact need. After selection of a specific disease state, the custom gene panel can be modified to add or remove genes. Through this option, single gene testing can be performed.