Genetic Testing

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.