Maria*, a very sick little girl from Puerto Rico, was admitted to the Boston Children’s Hospital (BCH) with extreme failure to thrive. She had a history of severe developmental delays and microcephaly after spasticity and arthrogryposis were identified at birth. In
November 15, 2012
Where are they Now? Eden Haverfield, Ph.D.
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.
November 15, 2012
Coding Corner - the New 2013 Molecular CPT codes
According to the American Medical Association, the New 2013 Molecular CPT Codes will go into effect January 1, 2013. These new codes will replace the old system for coding molecular pathology procedures known as “stacking codes” (83890 – 83914), which focus on method
October 15, 2012
Upcoming conferences
Come visit us in the exhibitor hall at the following upcoming conferences:
NSGC 31st Annual Education Conference in Boston Massachusetts
October 24 - 27, Hynes Convention Center, Booth 405
October 15, 2012
The University of Chicago Genetic Services Announces Expanded Testing for Cornelia de Lange syndrome (now including SMC3, RAD21 and HDAC8)
The University of Chicago Genetic Services is a leader in providing clinical genetic testing for Cornelia de Lange syndrome (CdLS).
October 15, 2012
Molecular characterization and genotype/phenotype correlation of ten patients with structural rearrangements in the NIPBL gene.
This poster (#3090F) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Yu-Wei Cheng, our molecular fellow, Friday November 9: 3:15pm-4:15pm. Stop by and learn more.
October 15, 2012
Principles and Informatic Infrastructure for Implementing Diagnostic Next-Generation Sequencing for Genetically Heterogeneous Conditions
This poster (#1737W) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Scott Topper, assistant director of UCGS, Wednesday November 7: 2:15pm-3:15pm. Stop by and learn more
October 15, 2012
Meet our New Assistant Director, Scott Topper
[img_assist|nid=379|title=|desc=|link=none|align=left|width=175|height=233]We are proud to announce the newest addition to our staff, Dr. Scott Topper. Dr.
September 13, 2012
New Next Generation Sequencing Panels for Polymicrogyria, Cerebellar Hypoplasia and Warburg Micro Syndrome
We are offering three new brain malformation panels:
September 13, 2012
Potentials Foundation - a support group for individuals and families with microcephalic primordial dwarfism
The University of Chicago Genetic Services provides testing for microcephalic primordial dwarfism. Here is an article by The Potentials Foundation president, Bob Walker, describing his organizations mandate and mission to support families with these conditions.
September 13, 2012
Where are they now? Shalini Reshmi, Ph.D.
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.
August 13, 2012
New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability.
August 13, 2012
Complex rearrangement of MTM1: a case for deletion/duplication testing when there is a strong clinical suspicion of myotubular myopathy and conventional sequencing is negative
Myotubular myopathy (MTM) is one of the most severe neuromuscular disorders of childhood, typically presenting at or around the time of birth with profound hypotonia, severe extremity weakness, progressive ophthalmoparesis, and, often, respiratory failure. The diagnos
August 13, 2012
Meet the Team - Darrel Waggoner, M.D.
Darrel J. Waggoner, M.D., FACMG is the Medical Director of the UCGS and Professor of Human Genetics and Pediatrics at the University of Chicago. Dr. Waggoner specializes in the treatment of metabolic and genetic disorders in children and adults.
August 13, 2012
Where are they Now? Ghayda Mirzaa, M.D., and Jelena Brezo, Ph.D.
The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clini
July 16, 2012
Meet the Team - Daniela del Gaudio Ph.D.
Up next in our continuing series highlighting the many members of the UCGS lab is Daniela del Gaudio, Ph.D., associate director of the University of Chicago Genetic Services. Dr. del Gaudio received her PhD.
July 16, 2012
The Coding Corner Update
In this new series of articles, we will be bringing you news and updates from our billing department. Many of you may have at some point communicated with Yulanda Outlaw, the Billing Manager for the University of Chicago Genetic Services. Yulanda has been with UCGS f
July 13, 2012
New Fax Number!
As of August 1st, 2012 the University of Chicago Genetic Services fax number will be 773-702-9130. The current fax number of 312-729-2808 will be discontinued. Please update your records with this new information.
June 14, 2012
Meet the team - Soma Das, Ph.D
Starting in this month's newsletter we will be taking a closer look at the various team members that comprise the University of Chicago Genetic Services. First up is Soma Das, Ph.D., Professor and Director of the DNA Diagnostic laboratory. Dr. Das received her B.Sc.