DOH: Addition of Duchenne Muscular Dystrophy to the Supplemental Conditions Panel

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, 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. 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 more information, please review the September 19, 2026, edition of the Pennsylvania Bulletin.