The University of Chicago Genetic Services Introduces our Microcephaly and Early Infantile Epileptic Encephalopathy Panels by Next Generation Sequencing.

Starting July 16, we are offering two new panels:

Our Microcephaly Tier 2 panel will now include analysis of 11 genes implicated in primary microcephaly.   Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly and mental retardation (MR), but no other neurological findings.  Patients typically have normal or mildly short stature and otherwise normal weight and appearance.  Several related conditions involving microcephaly with more severe delays, brain malformations, and other neurological problems will also be included in the panel.  In cases suspected to have MCPH, ASPM testing is recommended first and is offered in our laboratory. If negative, the MCPH Tier 2 panel is recommended.  The genes in this panel include (ARFGEF2, CDK5RAP2, CEP152, CENPJ, PNKP, NDE1, MCPH1, SLC25A19, STAMBP, STIL, WDR62).

Our Early Infantile Epileptic Encephalopathy panel will now include analysis of 12 genes.  Early infantile epileptic encephalopathy (EIEE) is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. Seizures are typically medically intractable with evolution to West syndrome at 3-6 months of age and then Lennox-Gastaut syndrome at 1-3 years of age, which illustrates that these syndromes are probably part of a phenotypic continuum.  The genes in this panel include (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.