pa-56-38-1377: Addition of Duchenne Muscular Dystrophy to the Supplemental Conditions Panel

Summary

The United States Secretary of Health and Human Services added Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel on December 16, 2025. DMD is a rare genetic disease that results in muscles becoming damaged and weaker over time. Symptoms include delayed growth, impaired speech, difficulty swallowing, loss of muscle function and progressive loss of mobility. The Department of Health (Department), Division of Newborn Screening and Genetics, with the support of the Newborn Screening and Follow-up Technical Advisory Board, has developed a screening algorithm and diagnosis follow-up protocol for DMD. Screening for DMD will begin on all samples received by testing laboratories beginning January 1, 2027. Section 3(d) of the Newborn Child Testing Act (35 P.S. § 623(d)) requires a 30-day public comment period before changes are made to the list of conditions for which newborn children are screened and laboratory screening results reported. The Department published a notice for public comment at 56 Pa.B. 684 (January 31, 2026) and comments were to be submitted by March 20, 2026. The addition of DMD to the Commonwealth's supplemental mandated screening panel will increase the cost of the supplemental mandated panel by $10.80 per newborn. This cost will be invoiced to submitters by the testing laboratory. For additional information, contact Jennifer Bixler, Public Health Program Director, Division of Newborn Screening and Genetics, at (717) 783-8143....

The agency’s own summary, as published.