newborn screening

People with Pompe disease symptoms who are not directly referred to expert centers for a diagnostic work-up tend to take much longer to be properly diagnosed with this rare genetic disorder, a study shows. Researchers say facilitating direct referral might help with early diagnosis of Pompe. The study,…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Sanofi Genzyme and PerkinElmer Genomics have launched the Lantern Project, a comprehensive genetic testing program that aims to overcome the barriers to diagnosing rare diseases, such as Pompe disease. Rare, inherited disorders can be quite challenging to diagnose because they often are mistaken for more common diseases,…

Newborn screening for lysosomal storage disorders, including Pompe disease, is much more likely to detect individuals at risk for late-onset disease, according to a four-fear analysis of data from a pilot newborn screening program. The study “The New York pilot newborn screening program for lysosomal storage diseases: Report of the…

Newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for classic infantile-onset Pompe disease, according to researchers. Their study, “Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease,” was published in the journal Medical Decision Making Policy & Practice. Screening…

PerkinElmer announced that its in-vitro diagnostic (IVD) kit able to test newborns for the six most commonly screened lysosomal storage disorders (LSDs) has been approved by the U.S. Food and Drug Administration (FDA). The kit, the first commercialized using mass spectrometry instrumentation in the U.S., can screen for all six of…

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published in the Journal of Cellular Physiology.