As of December 1st, 2012, UCGS will be offering several new tests:

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Lissencephaly.

Classic Lissencephaly (LIS) or Lissencephaly Type 1 is a smooth or nearly smooth cerebral surface caused by deficient neuronal migration.  The spectrum of malformations ranges from complete agyria (absent gyri) to regional pachygyria to subcortical band heterotopia (SBH).Cobblestone lissencephaly (COB) previously designated as lissencephaly "type 2", is a brain malformation consisting of a complex cortical dysplasia with glioneuronal heterotopia on the brain surface, moderate to severe lissencephaly, dysmyelination, hypoplastic brainstem, and dysplastic cerebellum with cysts.

We are offering three new panels for lissencephaly:

Our Classic Lissencephaly panel is expanded to include sequencing and deletion/duplication analysis of the following 8 genes: ACTB, ACTG1, ARX, DCX, LIS1, TUBA1A and VLDLR.

Our new Cobblestone Lissencephaly panel includes sequencing of the following 6 genes: FKRP, FKTN, LARGE, POMGNT1, POMT1 and POMT2

In addition, our Comprehensive Lissencephaly panel will include sequencing and deletion/duplication analysis for all 14 genes listed in the Classic and Cobblestone Lissencephaly panels. 

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. Deletion/duplication analysis of the panel genes is performed by oligonucleotide array-CGH.

Please visit our website after December 1st for additional information regarding these tests.   We are pleased to provide our clients with these new testing options in addition to our current catalogue of tests.