The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability.

Intellectual disability (ID), sometimes also referred to as ‘mental retardation’ and ‘cognitive disability’, is a lifelong disability that presents in infancy or the early childhood years and is typically measured in three domains: intelligence (IQ), adaptive behavior and systems of support. Non-syndromic ID refers to the presence of ID without accompanying additional physical, neurological, and/or metabolic abnormalities.

We are offering three new panels for non-syndromic intellectual disability:

Our Autosomal Recessive non-syndromic ID panel includes all of the 20 genes listed: AP4B1, AP4E1, AP4M1, AP4S1, CA8, CC2D1A, CNTNAP2, CRBN, ERLIN2, GRIK2, MAN1B1, NRXN1, PRSS12, ST3GAL3, SOBP, TRAPPC9, TUSC3, VLDLR, ZC3H14, ZNF526

Our X-linked non-syndromic ID panel includes all of the 61 genes listed: ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DLG3, FLNA, FMR1, FTSJ1, GDI1, GRIA3, HCCS, HSD17B10, HUWE1, IL1RAPL1, IQSEC2, KDM5C, MAGT1, MECP2, MED12, MID1, NHS, NSDHL, OCRL, OFD1, OPHN1, PAK3, PCDH19, PHF6PHF8, PLP1, PQBP1, PRPS1, PTCHD1, RAB39B, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SRPX2, SYN1, SYP, TSPAN7, UBE2A, UPF3B, ZDHHC9, ZNF41, ZNF674, ZNF711, ZNF81

In addition, our Comprehensive non-syndromic ID panel is available, which includes 93 genes in total including all genes listed above implicated in X-linked and autosomal recessive ID, as well as the following autosomal dominant genes: CDH15, FOXG1, FOXP1, GRIN2B, KIRREL3, MEF2C, RAI1, STXBP1, SYNGAP1, TCF4, UBE3A, ZEB2.

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.