Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Suzanne C E H SalleveltAlexander P A StegmannBart de KoningCrool VelterAnja SteylsMelanie van EschPhillis LakemanHelger YntemaMasoud Zamani EstekiChristine E M de Die-SmuldersChristian GilissenArthur van den WijngaardHan G BrunnerAimée D C PaulussenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.