Offered by: Nemours Children's
Location: Delaware Valley
Delineation of the Genetic Etiology and Biologic Mechanism in Distinctive Physical and Neurodevelopmental Conditions.
What is the trial about?
This study will store samples and perform genetic testing to identify gene mutations in patients with presumably genetic conditions and family members.
Who can participate?
Individuals with distinctive presumably genetic conditions and their family members may participate.
What is involved?
This is a two part specimen banking and genetic testing study where we will be collecting blood samples and cheek swabs to obtain DNA from the patient and from family members. One sample will be stored in our repository and the other samples will be used for genetic testing to help identify novel gene mutations.