About Us
About Us
The University of Chicago Genetic Services Laboratory offers state-of the-art DNA diagnostic services under the direction of Soma Das Ph.D. The DNA diagnostic laboratory has a focus on testing of rare orphan genetic diseases for which testing is not readily available elsewhere. A large number of rare orphan genetic diseases are known to exist and the presence of different and usually unique or private mutations in patients and their families makes testing for such disorders difficult...
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Coming Soon
Coming Soon
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Next-Generation sequencing panels for Brain Malformations, Early Infantile Epileptic Encephalopathy and Intellectual Disability
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RYR1 sequencing for centronuclear myopathy
Blog
Blog
We are pleased to announce the newest addition to our staff, Amy Knight Johnson. She received her Bachelor of Science degree in genetics from...
The Angelman Syndrome Foundation is pleased to invite you to our Scientific Symposium at the Hilton Washington DC/Rockville, in Rockville, MD on...
The genetic basis for Weaver syndrome recently has been identified (Tatton-Brown et al., Oncotarget, 2011, 2:1127-1133 and Gibson et al., Am. J. Hum...
The University of Chicago Genetic Services Laboratory is an active supporter of the CdLS foundation activities and is pleased to provide some...
Anne Mitchell sensed something was not quite right when the fetus in her first pregnancy did not move as she had been told to expect. When her...
The University of Chicago provides testing of the TCF4 gene for Pitt Hopkins syndrome. www.pitthopkins.org is an organization established by two...
Come visit us in the exhibitor hall at the 2012 American College of Medical Genetics Annual Clinical Meeting in Charlotte, NC
March 28-30, Charlotte...
Copy number variations (CNVs) have been well documented to contribute significantly to some genetic disorders; however their frequency is currently...
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In the Spotlight
In the Spotlight
Suggest a Test
Suggest a Test
Send us your suggestions for new tests that we should add to our menu!