Comprehensive Testing Available for Kabuki syndrome
The University of Chicago Genetic Services Introduces New Testing for Kabuki syndrome
Meet our ABMG-Molecular Genetics Fellows
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 microcephaly-capillary malformation syndrome
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. 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.
2013 Angelman Syndrome Foundation Biennial Conference, July 23-26, Orlanda FL
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.
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
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
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
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
L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder with autosomal recessive inheritance, associated with accumulation of L-2-hydroxyglutaric acid (L-2-HG) in urine and mutations in the L2HGDH gene. We present a case of a 14 year old male with a history of developmental delays and 2-hydroxyglutaric aciduria.