MEDomics Sophisticated Genetic Testing Partners with Referring Physicians for Personalized Medical Treatment

MitoMED-Epilepsy

Recognizing the complexity of assigning a molecular diagnosis to epilepsy,  MEDomics offers comprehensive genetic testing for syndromic and non-syndromic epilepsy through the MitoMED-Epilepsy™ test that analyzes 1204 nuclear-encoded mitochondrial residing or mitochondrial related genes plus 343 genes known to cause
or contribute to epilepsy.

Epilepsy may be an isolated neurological malady, or it may occur as part of a more complex clinical phenotype. A comprehensive genetic testing strategy is important to: 1) establish a genetic cause of idiopathic epilepsy, 2) confirm a clinical diagnosis of epilepsy, 3) distinguish between syndromic and non-syndromic forms of epilepsy, and 4) assist in the selection of treatment options. The genetic etiology of epilepsy can range from mutations in genes encoding subunits of neuronal ion channels to mutations in genes that cause inborn errors of metabolism to mutations in genes that cause mitochondrial dysfunction. Approximately 25-50% of patients with biochemically confirmed mitochondrial disease may have seizures. An added value of the MEDomics approach to epilepsy testing is that certain pharmacogenomic susceptibility to toxicity by anti-seizure medications can be defined.

The coding sequence and the exon/intron boundaries are analyzed by harnessing the massively parallel power of Next Generation Sequencing (NGS) to detect heterozygous or homozygous mutations. The NGS data is analyzed by MEDomics scientists to detect at least three different types of mutations: 1) point mutations that cause a nonsense mutation or an amino acid substitution, 2) point mutations that cause a splicing abnormality, and 3) micro-deletions/insertions that cause a frame shift in protein sequence. Through a combination of comprehensive NGS and proprietary advances in bioinformatics and interpretation methods pioneered at
MEDomics, our physicians and patients are provided with best-in-class, state-of-the-art interpretation of the functional significance of detected mutations. Most of the cost resides in the detailed expert interpretation.

Why Physicians should Partner

with MEDomics?

• Extensive proprietary knowledge base of diseases and associated genome variations
• Leading expertise in bioinformatics and DNA mutations Analysis with unparalleled expert interpretation
• Most comprehensive testing in the industry
• Collaborate on a personalized medical treatment

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