Texas expands newborn screening for rare genetic conditions

Texas added four lysosomal disease tests to its newborn screening, increasing the total conditions screened to 59.

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.

Health officials say the new tests target lysosomal storage disorders, bringing the total number of conditions screened at birth in Texas to 59. These inherited disorders happen when the body lacks specific enzymes needed to break down fats and sugars, leading to toxic buildup in organs and tissues.

Babies in Texas are screened twice — once between 24 and 48 hours after birth, and again when they are between 7 and 14 days old. Each year, the state tests around 800,000 specimens, identifying about 1,000 newborns with often life-threatening conditions.

In addition to blood screenings, newborns in Texas may also undergo testing for hearing loss and critical congenital heart disease.

DSHS said the four newly added lysosomal storage disorders include:

Pompe disease – A condition that can cause severe muscle and heart problems in infancy. Without treatment, it can be fatal within the first year of life. Incidence: 1 to 2.5 per 100,000 births (approximately 4–10 cases annually in Texas)Mucopolysaccharidosis Type I (MPS I) – A severe disorder that affects the heart, airways, eyes, ears, and brain. Symptoms can progress rapidly, often leading to early death. Incidence: about 1 per 100,000 births (roughly 4 cases annually)Mucopolysaccharidosis Type II (MPS II) – Also known as Hunter syndrome, this disorder can impact various organs and body systems. The severe form includes significant neurological decline. Incidence: about 1 per 100,000 births (approximately 4 cases annually)Infantile Krabbe disease – Typically appears in the first year of life with feeding difficulties, seizures, and developmental regression. It often progresses quickly and can lead to death. Incidence: about 1 per 100,000 births (approximately 4 cases annually)

The screening is performed using a heel stick blood sample. If test results fall outside the expected range, follow-up appointments will be scheduled with a health care provider for further testing.

DSHS began its newborn screening program 60 years ago, initially testing for phenylketonuria, a disorder that can cause intellectual disability if left untreated.