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


Whole exome sequencing by Next Generation Sequencing (NGS) has ushered in the era of the Interpretive Diagnostic ExOMe (InDxOM™). For the InDxOM™ test, the coding sequence and the exon/intron boundaries of ~20,000 protein-coding genes are analyzed by harnessing the massively parallel power of NGS. MEDomic’s proprietary bioinformatics pipeline is used to map and compare the patient’s DNA sequence to that of a reference sequence and to control individuals, as well as assess the depth of coverage and data quality. The exome sequence data is analyzed by MEDomics geneticists 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 the protein sequence.  Clinical exome interpretation includes an analysis of protein “truncoid” mutations (stop codons, critical splice junction mutations, and microdeletions or insertions) and an analysis of the presence of any of the many thousands of putative mutations listed in the Human Gene Mutation Database (HGMD). The presence of such variants triggers a more detailed analysis of other variants in that gene.

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. 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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