DxOme® - Next Generation Sequencing
The DxOme® is a comprehensive NGS approach that enriches over 1500 genes. This is especially true for medical cases in which a gene panel diagnostic, which is primarily to be preferred and is based on the main clinical symptoms, has not led to a diagnosis. The DxOme® is also useful if the presence of a complex phenotype prevents gene selection in the sense of a phenotype-based gene panel.
In addition, DxOme® offers key advantages over Clinical Exome Sequencing (CES) and Whole Exome Sequencing (WES) in terms of:
- the focus on genes that are clinically relevant (clear association with the disease),
- the possibility of data evaluation according to differential diagnostic aspects (HPO-Term based),
- a high to very high quality of analysis (high technical coverage of the target regions),
- the analysis of relevant non-coding variants (coverage of relevant intronic areas),
- deletions / duplications, and
- a short analysis time in the prenatal and critical postnatal situations (10 working days).
The DxOme® contains over 1500 genes in the following areas:
- Eye Diseases
- Vascular and Connective Tissue Diseases
- Heart Diseases
- Brain Malformations / Neuronal Migration Disorders
- Hepatic and Pancreatic Diseases
- Pulmonary Diseases
- Nephrology, Endocrinology, and Electrolytes
- Neurogenetic Disorders
- Neuromuscular Disorders
- Mental Retardation and Dysmorphology
- Metabolic Diseases
The DxOme® is now available as part of our new diagnostic process. You can read more about the DxOme® test options under Gene Panel Sequencing.
Questions about MGZ’s DxOme? Send an email to inquiry@mgz-muenchen.com.