February 7, 2018

Stamford company launches newborn screening test for 193 illnesses

Sema4, a Stamford-based health information company providing advanced genomic testing, announced the launch of a supplemental newborn screening test designed to detect 193 childhood-onset diseases or disorders.

The Sema4 Natalis genetic test, which can be performed at home with a cheek swab on children as old as 10, costs $649, according to the company's website. The test is meant to give parents gain early insight into their baby's health and pursue medical interventions or genetic counseling if needed.

U.S. newborns are typically screened at the hospital for 34 health conditions on the Recommended Uniform Screening Panel (RUSP), but the selected conditions vary by state and represent a fraction of the genetic diseases that can manifest in a child's first decade, according to the company, which is a venture of New York City's Mount Sinai Health System.

Advances in DNA analysis have made it possible to detect the presence of more childhood-onset health conditions long before symptoms appear, the company says. As a supplemental test, Sema4 Natalis screens for more than five times the number of genetic diseases than a state's standard hospital test.

The test, which is sold online, also provided an analysis of how the subject is likely to respond to 38 different medications commonly prescribed at an early age.

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