A correct diagnosis of patients with heritable connective tissue diseases (HCTDs) has a great impact on their quality of life. It opens possibilities for personalized treatment, but also psychological wellbeing by being able to address their condition with an established name. It also has an influence on their family members. Individuals at risk can be identified and treated accordingly and the risk for future offspring can be determined, opening reproductive options for the parents. Even though technologies for genetic diagnosis are evolving, patients sometimes have to wait years for their diagnosis. An example of this is a patient with Stickler syndrome taken up in this research. This patient waited more than 5 years for his/her diagnosis. By analyzing this patient with ExomeDepth, a diagnosis could be given because of the detection of a deletion in the COL11A1 gene which was confirmed with MLPA. This illustrates that ExomeDepth is able to increase the diagnostic yield and help in a faster way patients who are waiting for a diagnosis. The cost for the diagnostic lab will also be reduced because ExomeDepth reduces the amount of laboratory experiments that need to be performed.