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Parkinson disease
This article reviews the diagnosis and treatment of Parkinson disease and defines how genetics and genetic testing can play a role.
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Hereditary breast and ovarian cancer
Patients who test positive for the BRCA1/2 mutations that cause breast and ovarian cancers have options when it comes to surveillance and prevention.
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Chromosomal microarray testing
CMA testing of children with autism, intellectual impairment, or multiple congenital anomalies detects clinically significant chromosomal deletions and duplications that are not visible by routine chromosome studies.
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Preimplantation genetic diagnosis
This article reviews the use of preimplantation genetic diagnosis (PGD), an assisted reproductive technology that has been used to evaluate embryos for genetic conditions prior to implantation.