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).
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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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
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.