September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and ...

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. A little over 40% of parents did not know about the ...

Kerri De Nies received the news this spring from her son's pediatrician: Her chubby-cheeked toddler has a rare brain disorder. She'd never heard of the disease — adrenoleukodystrophy, or ALD — but ...

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly ...

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 ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

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Hearing tests can be classified into two main types: diagnostic and screening. Screening tests that employ pure tone audiometry via basic air conduction are utilized to rapidly assess whether more ...