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

MitoMED-Autism

Recognizing the complex clinical phenotype of patients with autism spectrum disorders (ASD), MEDomics offers the MitoMED-Autism™ test that analyzes 1204 nuclear-encoded mitochondrial residing or mitochondrial related genes plus 75 additional nuclear genes known to contribute to ASD.

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.

Although the behavioral and cognitive impairments associated with ASD have been described in patients with various single-gene disorders, the majority of ASD patients are currently postulated to be non-Mendelian. Patients with ASD may also suffer from additional abnormalities in physiological pathways outside of the central nervous system: neuromuscular, endocrine, gastrointestinal, redox regulation, and energy generation. Several lines of evidence suggest that mitochondrial dysfunction may contribute to many of the physiological abnormalities associated with ASD. First, many of the clinical features of ASD, such as muscle weakness, developmental delay, and gastrointestinal problems, are also found in patients who suffer from mitochondrial disease. Second, mitochondrial dysfunction can explain why individuals with ASD are under higher oxidative stress and have reduced levels of antioxidants.  Third, animal models of syndromes with ASD features (e.g., UBE3A and MECP2 mouse models) also show evidence of mitochondrial dysfunction. A recent review estimates that the majority of patients with ASD have concomitant mitochondrial disease. Therefore, the MitoMED-Autism™ test is uniquely suited to provide medically-actionable information through the identification of patients with ASD and underlying mitochondrial dysfunction.

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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