What is MyOme's Diagnostic Testing?

MyOme’s diagnostic tests are designed to help find the cause of a genetic condition in adults and children.  All of these tests use a type of DNA testing called genome sequencing. Healthcare providers choose the right test based on a patient's medical and family history. The results can help confirm a diagnosis, guide treatment decisions, and provide useful information for other family members.

Diagnostic testing options include:

• Rare Disease Exome: This test looks at the parts of your DNA that help make proteins, which are important for how your body grows and functions. Many known genetic conditions are caused by changes in these protein-coding regions.
• Rare Disease Genome: This test looks at all of your DNA, including both the protein-coding parts and the non-coding regions that help control how genes work. It gives the most complete picture of your genetic information. It gives a more complete picture and can help find genetic causes of disease that might be missed by other tests.
• Rare Disease Copy Number Analysis: This test checks your DNA for missing or extra sections, called copy number variants (CNVs). These changes can affect one or more genes and are linked to certain genetic conditions.