Скачать или смотреть The Road to Diagnosis: Why Genetic Testing Matters in Rare Diseases

Ashley describes her and Jameson’s experience of raising a child with a rare disease. After years of advocating for their son, Conner, they were finally offered genetic testing. At the age of 5, Conner was diagnosed with Angelman syndrome, a genetic disorder causing dramatic developmental impairments. While there is no cure for Angelman syndrome, the diagnosis ultimately enabled them to connect with patient support groups that have been invaluable to their family. Microarrays are a key genetic screening tool that can play a critical role in diagnosis when clinicians suspect Angelman syndrome.

Disclaimer: Conner was not tested using an Illumina diagnostic test. This story has been shared as a testimonial of the potential benefits of cytogenetic testing. One person’s experience is not predictive of results in other cases, which may differ based on a variety of factors.

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