Customer Stories

Accurate, Cost-Effective Newborn Screening for the Illinois Department of Health on the MassARRAY®

About the Illinois Department of Public Health

IDPH is a state agency charged with promoting health through the prevention and control of disease and injury. The IDPH has three laboratories to test patients of all ages for dangerous and potentially life-threatening disease. The organization performs newborn screening, which now includes testing for cystic fibrosis (CF).

The Challenge

Though the newborn screening program through IDPH began including CF testing in 2008, the development of variants among an increasingly diverse population has created a need for expanded CFTR variant detection. IDPH required a cost-effective assay that detected a wide range of variants with flexible workflow to meet the needs of patients across the state.

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The Solution

IDPH began using the MassARRAY® System and iPLEX Pro CFTR Panel from Agena Bioscience® to meet increasing need for CF detection in newborn Illinoisans. The IDPH presented a poster at the Association of Public Health Laboratories Newborn Screening and Genetic Testing Symposium to present data from the use of the MassARRAY System and CFTR Panel.

The iPLEX Pro CFTR Panel detects 74 variants in the CF transmembrane receptor gene (CFTR), including those recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) for testing in newborns.

The IDPH tested 70 of 74 variants included on the iPLEX Pro CFTR Panel using the CDC’s cystic fibrosis dried blood spot repository.1

When tested on dried blood spot samples from the Center for Disease Control and Prevention for CFTR proficiency testing, the iPLEX® Pro CFTR Panel proved reliable and accurate:

  • Of 237 variant alleles genotyped, only 1 was called inaccurately due to a rare SNP located in the extension primer sequence1
  • The average call rate was 99.6%1
  • A 100% call rate was achieved using as little as 0.2 ng of DNA per reaction1

The IDPH also reported that they expected cost savings in their laboratories using the MassARRAY System and iPLEX Pro CFTR Panel by eliminating the need for commercially purchased DNA extraction reagents.1

In addition to the CFTR Panel, Agena Bioscience also provides custom panels for front-line laboratories to meet the needs of their targeted patient populations.

See How the MassARRAY® System Supports Flexible CF Testing for Newborns

Explore the CFTR Panel for cost-effective detection. Explore additional applications of the MassARRAY System. Or, create a custom panel for your lab.

1. Mercer K, et al. A Performance Evaluation of the iPLEX Pro CFTR assay using dried blood spots from the CDC cystic fibrosis repository. Poster presented at Association of Public Health Laboratories Newborn Screening and Genetic Testing Symposium.

“ We are proud to have the MassARRAY System chosen to be an integral part of one of the top newborn screening programs in the country. As we observed in this instance, genetic testing panels may need to evolve to account for a number of factors, including changes in the regional population. The flexibility of the MassARRAY System will be able to support front-line laboratories such as IDPH to meet the public need for years to come.

– Pete Dansky

Agena Bioscience