In Sapporo city of Japan, neonatal screening for congenital hypothyroidism has used the measurement of free thyroxine (T4) and thyroid-stimulating hormone (TSH) in the filter-paper blood spot. This ...

Please provide your email address to receive an email when new articles are posted on . Despite the benefits of neonatal screening, 70% of infants worldwide are born in areas that do not have access ...

The Eonis™ Q system from Revvity is an innovative dry PCR workflow that simplifies and streamlines molecular testing for SMA and SCID. It comprises the compact Eonis™ Q96 instrument, stable and ...

DBS samples from 116 healthy individuals (2–46 years old), 19 previously diagnosed GD patients (6 months to 14 years old) and 19 obligate carriers (20–50 years old) were collected to validate the ...

A committee of experts will conduct a study examining the current landscape of newborn screening (NBS) systems, processes, and research in the United States and consider sustainable adoption of ...