This option tests over 8000 disease-associated genes (OMIM®, HGMD®). This test is ideal for patients for whom previous focused testing has been negative or those who have a complex or very rare combination of phenotypes that are not suggestive of any recognizable syndrome. It is also recommended, in cases with very broad and complex symptoms, or unspecific, not pointing towards specific disease or typical phenotype. >99.0% of all known clinically relevant variants in coding and non-coding regions will study in this test. Containing the majority (~85%) of known disease-causing changes, WES uncovers the cause of rare diseases in less time and at a lower overall cost – leading to better patient outcomes.

Identifying a molecular diagnosis in patients with a known or suspected genetic disorder, which can allow for:

• Better understanding of the natural history/prognosis
• Targeted management (anticipatory guidance, management changes, specific therapies)
• Predictive testing of at-risk family members
• Testing and exclusion of disease in siblings or other relatives
• Recurrence risk assessment
• Reproductive decision-making

Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative

Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays