At Nemours, we promise to do whatever it takes to treat children as we would our own. When your child comes to Nemours, we know you’re placing your trust in us. This trust and our dedication to improving the health of your child is what inspires us to provide exceptional care and the most satisfying experience possible.
Patient Satisfaction: See what families say about our care.
News & Recognition
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- Genetic Testing for Patients With Presumably Genetic Conditions and Family Members
- Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies
- Genetic Basis of Cryptorchidism: Prospective Study
- Primordial Registry
- Rhizomelic Chondrodysplasia Punctata Registry
- The eXtraordinarY Babies Study: Natural History of Health in Children With Sex Chromosome Trisomy
Genetic Testing for Patients With Presumably Genetic Conditions and Family Members
Offered by: Nemours
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.
Contact Nemours Clinical Trials
Trial Name: Delineation of the Genetic Etiology and Biologic Mechanism in Distinctive Physical and Neurodevelopmental Conditions