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GeneDx is genetic testing company that was founded in 2000 by two scientists from the National Institutes of Health (NIH), Drs. Sherri Bale and John Compton. They specialize in testing for rare inherited disorders. In 2006, BioReference laboratories acquired GeneDx. Since then GeneDx has operated as a subsidiary of this parent company under the leadership of Drs. Bale and Compton.

GeneDx works with the medical, scientific and patient advocacy communities to continuously develop new genetic tests not currently available at other clinical laboratories. GeneDx currently performs testing for more than 200 rare Mendelian disorders using DNA sequencing and deletion/duplication analysis of the associated gene(s). GeneDx also performs oligonucleotide-based microarray testing for the detection of chromosomal abnormalities (genomic losses or gains) in individuals with chromosomal anomalies. In addition, GeneDx provides testing for autism spectrum disorders and various forms of cardiomyopathy.

GeneDx settled a patent dispute with Myriad Genetics in February 2015 after GeneDx launched a BRCA breast cancer genetic screening test following the US Supreme Court decision in Association for Molecular Pathology et al. v Myriad that isolated gene sequences were patent ineligible.[1]