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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TSEN2 and TSEN34 sequencing for pontocerebellar hypoplasia
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EP300 sequencing for Rubinstein-Taybi syndrome
New Tests
New Tests
Blog
Blog
Seckel syndrome belongs to the microcephalic osteodysplastic dwarfism group characterized by intrauterine growth retardation, dwarfism, and...
The University of Chicago offers genetic testing of NIPBL and SMC1A, which are causes of Cornelia de Lange Syndrome. They work very closely with The...
In 2002, my husband and I were blessed with our third child. As the first months went by, we noticed our son, Brandon, wasn’t progressing...
Wilson disease (WD) is a rare genetic disorder of copper metabolism that affects 1 in 30,000 people worldwide. Mutations in the ATP7B gene on...
The centronuclear myopathies (CNM) are a rare group of hereditary neuromuscular diseases that are both clinically and genetically heterogeneous....
Our laboratory performs full gene sequencing of MLL2 for Kabuki syndrome. The Kabuki Syndrome Network (KSN) is a support group for patients and...
Come visit our exhibit at the following upcoming conferences:
October 11-15 at the ASHG 61st Annual Meeting in Montreal Exhibitor Booth #1002...
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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!
