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GeneDx, Inc.

207 Perry Parkway
Gaithersburg, MD, USA

Category: Diagnostic/Imaging; Research Services & Supplies

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GeneDx, Inc. is specialized in genetic testing for rare hereditary disorders. It was founded by Sherri Bale and John Compton, with a mission to make clinical testing available to people with rare genetic conditions and their families. The company was acquired by Bio-Reference Laboratories, Inc. on September 28, 2006.
GeneDx's tests include full gene analysis by DNA sequencing, the gold standard of genetic testing. It offers a wide range of tests which include: diagnostic tests, molecular cytogenetic tests, prenatal diagnosis, mutation specific/carrier tests, cardiology genetics, etc. The company offers tests for the following genes: AAAS, ABCA12, ABHD5 (CGI-58) Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis, NLSD), ATP2C1 Hailey-Hailey disease (HHD; familial benign chronic pemphigus), etc. It offers full-service molecular cytogenetic testing, including a custom-designed whole-genome array CGH test.
GeneDx's CGH test is available to rule out 65 common or novel genomic disorders as well as terminal and pericentromeric chromosomal rearrangements. The company has also developed FISH service that can be requested as a stand-alone test for genomic disorders or specific segmental aneuploidies, or as a follow-up test for parents of a proband with a positive array CGH result. It offers cardiology genetic testing services for Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Long QT syndrome, Brugada Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy, etc.