A new "proteomic" blood test can accurately screen a newborn's DNA for thousands of rare, inherited diseases by analyzing just a single-milliliter sample, according to a study to be presented Monday.

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

Now including Tandem Repeat Expansions confirmed with Long-Read Sequencing and Comprehensive Mitochondrial Genome Analysis. MENLO PARK, Calif., Sept. 18, 2025 /PRNewswire/ -- MyOme, a leading genomics ...

Generation Study enrolls 100,000 babies to receive whole genome testing which can identify hundreds of diseases before ...

Just four weeks after he was born at Sheffield Teaching Hospital in April, Freddie was diagnosed with a rare and aggressive ...

Did you know that most of the 7,000 to 10,000 rare diseases affect children? With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

As more people start to opt for genetic carrier testing ahead of conception, doctors and parents-to-be are facing difficult ...

Since the 1960s, Texas has screened newborns for a variety of rare diseases — like sickle cell anemia and cystic fibrosis.

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...