Many new things are afoot at The University of Chicago Genetic Services:

New Tests!

As of July 16th, we are offering two new panels by next generation sequencing.  Our MicrocephalyTier 2 panel will now include analysis of 10 genes (ARFGEF2, CDK5RAP2, CEP152, CENPJ, PNKP, NDE1, MCPH1, SLC25A19, STIL, WDR62) and our Early Infantile Epileptic Encephalopathy panelwill now include analysis of 12 genes (ARHGEF9, ARX, CDKL5, GRIN2A, PCDH19, PNKP, MAGI2, SCN1A, SLC2A1, SLC25A22, SPTAN1, STXBP1).

Comprehensive sequence coverage of the coding regions and splice junctions of all genes in these panels will be performed.  Targets of interests will be amplified using highly parallelized and multiplexed PCR reactions assembled with the Raindance System.  DNA will be sequenced using Illumina technology.  Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.  All novel and/or potentially pathogenic variants will be confirmed by Sanger sequencing.  The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and small insertions and deletions. 

We are pleased to provide our clients with this new testing option in addition to our current catalogue of tests.  

New Requisition Form!

The University of Chicago Genetic Services has a sleek, new requisition form (  Thanks to the team at thatEXACTLY (, especially Jason Graham and Jack Macaluso, for all their hardwork and skills in the redesign of our requisition form.  We hope our clients like the changes!

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.