UCGS Introduces over Fifty New Tests Including New and Expanded Multi-Gene Sequencing Panels

    The University of Chicago Genetic Services Introduces over Fifty New Tests including new and expanded multi-gene sequencing panels.

    Coffin-Siris syndrome

  • New next generation sequencing and array-CGH deletion/duplication panels for Coffin-Siris syndrome (6 genes) — now available

    • Congenital Contractures

  • New next generation sequencing and array-CGH deletion/duplication panels for Distal Arthrogryposes (9 genes) — now available

    • Congenital Muscle Disease Testing

  • New next generation sequencing and array-CGH deletion/duplication panels for Congenital Myopathy (17 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Congenital Muscular Dystrophy (21 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Congenital Myopathy with Prominent Contractures (11 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Limb Girdle Muscular Dystrophy (24 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Congenital Myasthenic Syndrome (13 genes) — now available

    • Diabetes

  • New next generation sequencing and array-CGH deletion/duplication panels for Neonatal Diabetes Mellitus (8 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Rare Forms of MODY (10 genes) — now available
  • New next generation sequencing and array-CGH deletion/duplication panels for Familial Hyperinsulinemic Hypoglycemia (6 genes) — now available
  • PDX1 analysis for Pancreatic Agenesis — now available
  • GATA6 analysis for Pancreatic Agenesis and Congenital Heart Defects — now available
  • PTF1A analysis for Pancreatic Agenesis and Cerebellar Agenesis — now available
  • RFX6 analysis for Mitchell-Riley syndrome — now available
  • GLIS3 analysis for Neonatal Diabetes Mellitus with Congenital Hypothyroidism — now available
  • NEUROG3 analysis for Neonatal Diabetes Mellitus with Severe Malabsorptive Diarrhea — now available
  • EIF2AK3 analysis for Wolcott-Rallison syndrome — now available
  • INSR analysis for Type A Insulin Resistant Diabetes with Acanthosis Nigricans — now available
  • SLC2A2 analysis for Fanconi-Bickel syndrome — now available
  • IER3IP1 analysis for Microcephaly, Epilepsy and Diabetes syndrome — now available
  • CP analysis for Aceruloplasinemia — now available
  • AKT2 analysis for Hypoinsulinemic Hypoglycemia with Hemihypertrophy — now available
  • WFS1 and CISD2 analysis for Wolfram syndrome — now available

    • Microcephaly

  • Autosomal Recessive Primary Microcephaly— updated
  • New Next Generation Sequencing panels for Microcephaly (33 genes) — now available

    • Neurodegeneration with Brain Iron Accumulation (NBIA)

  • New next generation sequencing and array-CGH deletion/duplication panels for NBIA (9 genes) — now available

    • Neuronal Ceroid-Lipofuscinoses (NCL)

  • New next generation sequencing and array-CGH deletion/duplication panels for NCL (8 genes) — now available

    • Updates to our existing next generation sequencing panels

  • Cerebellar/Pontocerebellar Hypoplasia — updated
  • Classic Lissencephaly — updated
  • Cobblestone Lissencephaly — updated
  • Comprehensive Lissencephaly — updated
  • Polymicrogyria— updated
  • Joubert and Meckel-Gruber syndrome — updated
  • Seckel syndrome— updated
  • Comprehensive Primordial Dwarfism— updated
  • Early Infantile Epileptic Encephalopathy— updated

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