METHOD OF DIAGNOSING PATIENTS WITH CONDITIONS CAUSED BY MENDELIAN MUTATIONS

摘要

The method of diagnosing patients with conditions caused by Mendelian mutations is a genetic panel-based diagnostic method for determining if a patient has a condition (or a proclivity for a condition) based on detection of one or more specific genetic markers. A sample is first obtained from a patient and the sample is assayed to determine the presence of at least one genetic marker. The assay is a sequencing-based multiplexing assay designed for the detection of specific Mendelian mutations. The patient is then diagnosed with a particular condition (or with a proclivity for that condition) if the at least one genetic marker is detected.