(InvestigateTV) — Rare disorders and conditions are caught in more than 12,000 babies born every year because of newborn screening done across the United States. But despite the critical need, an ...

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

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 ...

Lancet study proves that NHS refusing to screen for spinal muscular atrophy (SMA) as part of the newborn heel prick test is ...

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 ...

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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 US Food and Drug Administration (FDA) has cleared for marketing the first screening test for severe combined immunodeficiency (SCID) in newborns. The EnLite Neonatal TREC Kit, manufactured by ...

TEXAS, USA — The Texas Department of State Health Services (DSHS) announced Wednesday that four additional tests for rare genetic conditions will be added to the state’s newborn screening program.

Dr. James Gibson and his genetics clinic at Dell Children's Medical Center are expecting a first any day now: The first baby with a lysosomal storage disorder to come to the clinic for treatment ...