Identification of genetic risk for XXXX .

@entity1 @entity788 @entity1124 @entity1689 @entity4306
UNASSIGNED: Recent consortium guidelines support research-based screening for those at high risk of @entity788 ( @entity1124 ( @entity1124 )). Genetic testing plays an important role in the establishment of high-risk @entity1124 research clinics by delineating those individuals who would benefit from screening protocols. We retrospectively examined @entity1 referred for @entity1124 -related genetic testing from January 2009 to June 2014. @entity1 were referred for a personal and/or family history of @entity1124 or a questioned diagnosis of @entity4306 ( @entity4306 ). Of the 75 referred @entity1 , 36 underwent testing, of which 11 (31%) were mutation-positive. In total, 36% of @entity1 with @entity1689 carried a mutation, 11% of @entity1 with a family history of @entity1124 carried a mutation, and 20% of @entity1 with a personal history of @entity1124 carried a mutation. The most common barrier to testing was lack of insurance coverage. Genetic testing yields a suitable number of mutation-positive individuals who may benefit from increased screening. Subjects with possible @entity4306 yielded the highest positive rate. Individuals with @entity788 , onset of @entity788 before the age of 30 years, and those with a family history of @entity1124 should be considered for testing. Sub-optimal insurance coverage remains a major deterrent to obtaining testing.
