Article
Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 2009
Roberts Lisa J, Ramesar Rajkumar S, Greenberg Jacquie
Abstract excerpt
OBJECTIVES: To assess the clinical utility of ABCR400 microarray testing in patients with ABCA4-associated retinopathies and to report on possible issues that could arise should genetic results be delivered without validation. METHODS: One hundred thirty-two probands were genotyped with the microarray. Diagnostic assays were designed to verify all mutations identified in individuals in whom at least 2 causative...
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