The University of Chicago Genetic Services Laboratories has been a leader in clinical genetic testing for neuromuscular disorders for over a decade. We currently offer several Next Generation Sequencing panels for neuromuscular disorders, including panels for congenital myopathy, congenital muscular dystrophy, and congenital myasthenic syndrome. We also offer a large combined Neuromuscular Disorder Sequencing Panel which includes analysis of 113 genes. All our sequencing panels for neuromuscular disorders have recently been updated with new genes, and all panels now have a significantly reduced price of $2000!

Neuromuscular disorders can be complex with significant clinical and genetic heterogeneity, and atypical clinical presentations. Given the diagnostic challenges with neuromuscular disorders, we are excited to be now offering free reflex testing for our neuromuscular sequencing panels! Effective June 1st, 2017, if a patient has a negative or inconclusive result on a neuromuscular sequencing panel in our laboratory, the ordering provider may request analysis of one additional neuromuscular sequencing panel at no additional charge, if requested within four weeks of when the report was signed out.

  • Patients with no sequence variants reported, only variants of unknown significance reported, or only one heterozygous pathogenic sequence change identified in a gene associated with recessive inheritance are eligible for analysis of one additional neuromuscular sequencing panel at no additional cost.
  • Patients with two pathogenic/likely pathogenic sequence changes identified in gene associated with recessive inheritance, or a pathogenic/likely pathogenic sequence in a gene associated with dominant inheritance are not eligible for additional testing at no cost. Exceptions may be made for genes associated with both dominant and recessive inheritance, these cases must be reviewed and approved by a laboratory genetic counselor. 

Eligible panels can be found in the Neuromuscular testing category on our website. Only multi-gene panels performed by Next Generation Sequencing are eligible for reflex testing at no additional charge.