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

Mitochondrial Disease MitoMED1204

The core MitoMED1204™ harnesses the power of Next Generation Sequencing (NGS), coupled with advanced proprietary bioinformatics and interpretation pioneered at MEDomics, to sequence 1204 nuclear genes encoding proteins that function in the mitochondria or whose defects can mimic mitochondrial disease. The MitoMED1204™ test, in conjunction with the MitoDx™ test (that provides deep heteroplasmy analysis of the mitochondrial genome), offer comprehensive diagnostic testing that can elucidate the patient’s pathophysiology to guide targeted treatment.  These tests may also assist with enrollment into drug treatment trials that require defined disease mechanisms.

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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