May 14, 2013
Where are they Now? Gordana Raca MD, PhD.
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.
April 9, 2013
New Next Generation Sequencing Panel for Rett and Angelman syndrome
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Rett and Angelman syndrome.
April 9, 2013
New Next Generation Sequencing Panel for Neonatal Diabetes and Maturity-Onset Diabetes of the Young
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Neonatal Diabetes and Maturity-Onset Diabetes of the Young
April 9, 2013
New Next Generation Sequencing Panels for Lipodystrophies
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Lipodystrophies
March 13, 2013
Upcoming conference
Come visit us in the exhibitor hall at the 2013 American College of Medical Genetics Annual Clinical Meeting in Phoenix, AZ
March 20-22, Phoenix Convention Center, Booth 623
March 13, 2013
Development of a Next Generation Sequencing-based Assay for the Molecular Characterization and Diagnosis of Monogenic Diabetes Mellitus
This poster (#0380) will be presented at the ACMG Annual Clinical Genetics Meeting by Daniela del Gaudio, our associate lab director, Thursday March 21: 10:30am-11:30am. Stop by and learn more
March 13, 2013
Beyond Consanguinity - the first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient
This poster (#0107) will be presented at the ACMG Annual Clinical Genetics Meeting by Chris Tan, our genetic counselor, Thursday March 21: 10:30am-11:30am. Stop by and learn more
March 13, 2013
L-2-hydroxyglutaric aciduria in an adolescent male with mild cognitive impairment.
This poster (#0302) will be presented at the ACMG Annual Clinical Genetics Meeting by Amy Knight Johnson, our genetic counselor, Friday March 22: 10:30am-11:30am. Stop by and learn more
February 15, 2013
New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome.
February 15, 2013
Updated Next Generation Sequencing Panels
We have updated and increased the genes in a number of our next-generation sequencing panels.
Our Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel now includes sequencing of 8 genes: CASK, OPHN1, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1
February 15, 2013
The Creation of the Floating Harbor Syndrome Support Group
The University of Chicago provides testing of the SRCAP gene for Floating Harbor syndrome.
February 15, 2013
Where are they Now? Asem Alkhateeb, Ph.D
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.
February 15, 2013
"Like" the University of Chicago Genetic Services Laboratory on Facebook
The lab’s new facebook page is now up and running! http://www.facebook.com/U.C.GeneticServicesLaboratory
January 16, 2013
CHIME syndrome
CHIME syndrome is a rare autosomal recessive neuroectodermal syndrome recently identified as a disorder of glycosylation secondary to mutations in PIGL (Ng et al, Am J Hum Genet 90:685-688, 2012).
January 16, 2013
Coding Corner Update
Happy New Year! Our New 2013 Molecular Pathology CPT Codes are now in effect. Please visit our website at www.dnatesting.uchicago.edu to obtain a listing of our new codes and tests.
December 18, 2012
Director's Cut - Reflections on the Past Year
2012 has been a very exciting year for our laboratory with the launching of our first series of next generation sequencing (NGS)-based tests. While the power of this technology is now well established, it has been very satisfying to experience it first hand and to se
December 17, 2012
The Coding Corner - Update on the New 2013 Molecular CPT codes
After months of consideration, the Center for Medicare & Medicaid Services (CMS) announced that the new 2013 Molecular Pathology CPT Codes (MPCC) will be paid under the Clinical Laboratory Fee Schedule (CLFS) using the gap-fill method.
December 17, 2012
Where are they Now? Shaochun Bai, Ph.D.
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.