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

Intellectual Deficiency MitoMED-ID

Recognizing the genetic heterogeneity and complex clinical phenotype of patients with intellectual disability, MEDomics offers the MitoMED-ID™ test that analyzes 1204 nuclear-encoded mitochondrial residing or mitochondrial related genes plus 110 additional nuclear genes known to cause or contribute to intellectual disability.

Inborn errors in development can give rise to deficits in cognitive function and adaptive learning, leading to intellectual disability (IQ < 70) and possible behavioral problems throughout an individual’s life-time. The genetic etiology of intellectual disability (ID) includes cytogenetic rearrangements, submicroscopic copy number variations, defects in epigenetic regulation, and single gene mutations. On the X chromosome alone, ~200 medical conditions and ~90 genes include ID as part of the phenotype. This so-called X-linked intellectual disability (XLID) affects approximately 1 in 600 males and a significant number of females. In addition to X-linked causes, a large number of conditions caused by inborn errors of metabolism also have ID as part of the clinical spectrum. Moreover, defects in mitochondrial proteins caused by mutations in either the mitochondrial (mtDNA) or nuclear genomes can cause ID as part of a larger clinical phenotype. Therefore, the MitoMED-ID™ test is uniquely suited to provide medically-actionable information through the identification of patients with X-linked and autosomal ID and underlying mitochondrial or metabolic dysfunction.

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

More info or a free consult?