Genetic Testing

Genetic testing in at-risk children can improve monitoring, guide activity choices, reduce stress, and prepare families for future therapies.

Long-term data show sustained survival, immune recovery, and metabolic correction after lentiviral gene therapy for ADA-SCID, with no vector-related safety events.

FDA adds boxed warning to Elevidys and limits use to ambulatory DMD patients ≥4 years after reports of fatal acute liver failure in non-ambulatory patients.

Study of 99 pediatric patients found clinically significant CNVs in 30% of cases, supporting CMA as a first-tier test for developmental delay and ID.

Test your knowledge of updated AAP recommendations for genetic evaluation of children with developmental delay and intellectual disability.

FDA grants Breakthrough Device Designation to GeneDx genome and exome tests supporting diagnosis of life-threatening genetic disorders.

Craig Press, MD, PhD, discussed the evolution of pediatric neurocritical care toward individualized care at the 2025 Child Neurology Society meeting.

A Rutgers-led study found genetics, personality traits, and environment uniquely shape early adolescent alcohol use, guiding prevention efforts.

A new polygenic risk score enhances obesity risk prediction from childhood to adulthood, offering new insights for early intervention and prevention strategies.

AAP updates clinical guidance to help pediatricians navigate genetic evaluation of children with global developmental delay or intellectual disability.

Unlike conventional carrier screening that estimates generic reproductive risk, the UNITY panel offers a direct fetal risk estimate.

Jay T. Rubinstein, MD, PhD, emphasized that children with hearing loss should receive genetic testing, as the investigational DB-OTO gene therapy demonstrated positive results.

“In some cases, that meant that we could actually go after the primary pathology or the primary cause of the condition in a way that we never would have thought of before."

Genetic research is revealing that up to 35% of cerebral palsy cases have an identifiable genetic cause, leading to earlier diagnoses and potential precision medicine treatments.

Paul Kruszka, MD, MPH, FACMG, explains for general providers the difference between screening and diagnosis regarding whole genome sequencing and how it could play a role in the primary care setting.

Paul Kruszka, MD, MPH, FACMG, chief medical officer of GeneDx, joined us to provide background of whole genome sequencing and its benefits.

Parents had a variety of preferences and motivations for acquiring prognostic genetic information about their child, but 4 major findings emerged from parental interviews. Click to read more.

Overall, the findings of the study support the clinical utility of combining trio-WES sequencing with CNV-seq in the etiologic diagnosis and management of early-childhood GDD.

Investigators identify factors that may affect the probability of diagnosis in an evaluation of over 13,500 families with probands with severe developmental disorders.

A recent review found that early diagnosis and adequate treatment is important in preventing neurodevelopmental impairments in newborns with congenital hypothyroidism

You are asked to evaluate an African American boy aged 4 years with a birthmark on his back and right arm. He is healthy with normal growth and development. What's the diagnosis?

Specific genetic variations could be key in identifying acne risk far before the signs arise.

Many new therapies have been developed over the past decade to treat disorders that are often present at birth and early treatment can lead to better outcomes. However, the screenings for newborns have been slow to adapt.