In-depth

Tests and diagnosis

Genetic testing

Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.

Feb. 07, 2017
References
  1. NINDS Angelman syndrome information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/angelman/angelman.htm. Accessed Nov. 7, 2016.
  2. National Library of Medicine. Angelman syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/angelman-syndrome. Accessed Nov. 7, 2016.
  3. Angelman syndrome diagnostic criteria. Angelman Syndrome Foundation. http://www.angelman.org/understanding-as/medical-info/diagnostic-criteria/. Accessed Nov. 7, 2016.
  4. Pagon RA, et al., eds. Angelman syndrome. In: GeneReviews. Seattle, Wash.: University of Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Nov. 7, 2016.
  5. Bailus BJ, et al. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. BMC Neuroscience. 2014;15:76.
  6. Angelman syndrome diagnostic testing. Angelman Syndrome Foundation. https://www.angelman.org/what-is-as/medical-information/diagnostic-testing/. Accessed Nov. 13, 2016.
  7. Buiting K, et al. Angelman syndrome — Insights into a rare neurogenetic disorder. Nature. 2016;12:584.
  8. Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 22, 2016.