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
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.
The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome.
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
Our Microcephaly Tier 2 Sequencing Panel now includes sequencing of 14 genes: ARFGEF2, CASC5, CDK5RAP2, CENPJ, CEP63, CEP135, CEP152, MCPH1, MED17, NDE1, PNKP, SLC25A19, STIL, WDR62
The University of Chicago provides testing of the SRCAP gene for Floating Harbor syndrome. www.floatingharborsyndromesupport.com is an organization established by two families to help others with this diagnosis. Here is an article by one of the founders, Deana Swanson, that introduces you to her experience with the creation of their support group organization:
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 lab’s new facebook page is now up and running! http://www.facebook.com/U.C.GeneticServicesLaboratory
The main purpose of the page will be to share updates on new tests and other happenings in the lab. Please “like” us, and if you have colleagues who might be interested in our lab please encourage them to like us as well!
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).
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.
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 see how it is changing what we can do in the diagnostic laboratory. With the applications of NGS unraveling all around us at a dizzying pace it has been difficult not to get caught up in it all.
