We are offering three new brain malformation panels:

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.   

The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The training programs have a wide range of clinical and research activities including orphan disease diagnostics, genotype-phenotype correlation studies, cancer genetics, translation of new gene discoveries for diagnostic purposes, technology development, centromere delineation, chromosome structure and function studies, and phenotype/karyotype studies.

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability.

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 diagnosis of myotubular myopathy is considered when these features are present in an infant or young boy (it is an X-linked condition) in conjunction with muscle biopsy findings typical of a centronuclear myopathy (small type I fibers, increased central nuclei, and irregular/disorganized appearance of oxid

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. He sees patients in the Medical Genetics, Craniofacial, and Neurogenetics Clinics, and provides genetics consultation services for patients within the University of Chicago Medicine.

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 clinical molecular genetics and clinical cytogenetics.

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. in Clinical Molecular Biology from the University of Naples “Federico II”, Naples, Italy. Shortly after graduation, Dr. del Gaudio joined American Board of Medical Genetics training program at Baylor College of Medicine and became certified in Clinical Molecular Genetics. Prior to joining The University of Chicago Genetic Services, Dr.

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 for 12 years and plays an integral role in the group.  We understand the difficulties associated with healthcare reimbursement and one of Yulanda's goals is to help our clients navigate  our billing processes and procedures  with ease and clarity.