Genetic Testing

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.

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.

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.