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

Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidaemia and fatty liver. Lipodystrophies are typically classified according to the anatomical distribution of fat tissue

Our New Congenital Generalized Lipodystrophy Sequencing Panel includes sequencing of the 4 genes listed: AGPAT2, BSCL2, CAV1, PTRF

Our New Partial Lipodystrophy Sequencing Panel includes sequencing of the 7 genes listed: AKT2, CIDEC, LMNA, PLINI, PPARG, TBC1D4, ZMPSTE24

Our New Comprehensive Lipodystrophy Sequencing Panel includes sequencing of the 11 genes included in both the Congenital Generalized Lipodystrophy and Partial Lipodystrophy panels

Comprehensive sequence coverage of the coding regions and splice junctions of all genes in this panel will be performed.  Targets of interests will be captured and amplified using Agilent HaloPlex target enrichment system.  The constructed genomic DNA library will be sequenced using Illumina technology and reads will be aligned to the reference sequence.  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 insertions and deletions of less than 20bp.